Background:Currently,no worldwide approved therapies exist for adults with neurofibromatosis type 1(NF1)and symptomatic,inoperable plexiform neurofibromas.The KOMET study aimed to evaluate selumetinib(ARRY-142886,AZD6...Background:Currently,no worldwide approved therapies exist for adults with neurofibromatosis type 1(NF1)and symptomatic,inoperable plexiform neurofibromas.The KOMET study aimed to evaluate selumetinib(ARRY-142886,AZD6244)efficacy and safety in this population.Methods:This ongoing multicentre,international,randomised,placebo-controlled,phase 3,parallel,double-blind trial randomly assigned adults with NF1-plexiform neurofibroma 1:1 to 28-day cycles of oral selumetinib 25 mg/m2 twice daily,or placebo with crossover to selumetinib at confirmed radiological progression or the end of cycle 12.展开更多
Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has n...Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has not been reported in the literatures.Here we present a case of solitary PN of the stomach,which was not associated with von Recklinghausen disease.A38-year-old male presented abdominal pain and distention for 7 d.The patient underwent endoscopy of the upper gastrointestinal tract,which revealed a 3.5 cm protruding and cauliflower-shaped mass with a shallow1 cm central ulcer in the greater curvature of the stomach.The lesion was removed by laparoscopic surgery.Histological examination demonstrated characteristic histological findings of spindle-shaped cells.Immunohistochemical analysis showed that the tumor cells were positive for S-100 protein,but negative for CD34,KI-67,CD117,and actin.Based on histological findings,gastrointestinal stromal tumor could be excluded,and thus the case was confirmed as PN.We described the clinical features,physical examination,endoscopic findings,and histopathological examination of this case.展开更多
BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neu...BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neurofibromatosis(CENF)have been reported up-to-date.CASE SUMMARY We describe a case of a 55-year-old man with a 10 years history of progressive lower extremities weakness and bladder dysfunction.Before presenting,patient was misdiagnosed with idiopathic polyneuropathy.Lumbar spine MRI revealed a tortuous tumorous masses in the cauda equina region,extending through the Th12-L4 vertebrae.The patient underwent Th12-L3 Laminectomy with duraplasty.During the operation,the most enlarged electroneurographically silent nerve root was resected,anticipating inadequate decompression if nerve root was spared.The patient’s neurological condition improved post-operatively,but urinary retention became the major complaint.We provide a follow-up period of 10 years.During this time,the patient’s condition progressively worsened despite extensive decompression.The consequent MRI scans showed progressive enlargement of cauda equina roots and increasing lumbar stenosis,predominantly affecting L3-L4 segment.During the follow-up 8 years after the operation,the patient complained of worsening lower extremities sensorimotor function and neurogenic claudication.Subsequent MRI revealed lumbar spine stenosis at the level of L3-L4,requiring further decompression.The patient underwent a second surgery involving L4-L5 Laminectomy with duraplasty and L2-L5 transpedicular fixation.The post-operative period was uneventful.Latest follow-up 18 mo after the second surgery revealed substantial improvement in patient’s well-being.CONCLUSION CENF should be kept in mind during the differential diagnostic work-up for polyneuropathies.Management with an extensive decompression,duraplasty and primary spinal fixation represents a rational approach to achieve a sustained symptomatic improvement and superior overall outcome.展开更多
Solitary intraparotid facial nerve plexiform neurofibromas are extremely rare. These tumors arise from Schwann cells. The plexiform variant is recognized by tortuous and multinodular gross and microscopic lesions. It ...Solitary intraparotid facial nerve plexiform neurofibromas are extremely rare. These tumors arise from Schwann cells. The plexiform variant is recognized by tortuous and multinodular gross and microscopic lesions. It has a high risk of malignant transformation. We report a case of a solitary plexiform neurofibroma in a 5-year-old Italian male, who initially presented a right parotid mass of four-month duration. He had not pain, trismus, facial weakness or previous trauma. There was not familiar history of Von Recklinghausen’s disease. TC and MRI scans revealed a mass in the superficial lobe of the parotid gland. A partial parotidectomy was performed. Histopatological examination indicated plexiform neurofibroma. The incidence, presentation, diagnosis and surgical treatment of this lesion are discussed. In our case, the tumor could be readily separated from the main trunk, and facial movement was completely preserved owing to the rich neural network around the mass.展开更多
Neurogenic tumor is the name given to any tumor that arises from the nerve tissue or its coverings. Neurogenic tumors of Sino-nasal cavity are a very rare entity. The most common types are Schwannomas and Neurofibroma...Neurogenic tumor is the name given to any tumor that arises from the nerve tissue or its coverings. Neurogenic tumors of Sino-nasal cavity are a very rare entity. The most common types are Schwannomas and Neurofibromas and the plexiform subtype is one form of these neuroendocrine tumors. We report the case series of two such cases of a plexiform neurofibroma of the nasal tip, which were excised via an open rhinoplasty approach.展开更多
Background: Plexiform neurofibromas(PNF) are highly vascular tumors with the potential for significant growth.Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.This study proposed...Background: Plexiform neurofibromas(PNF) are highly vascular tumors with the potential for significant growth.Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.This study proposed and evaluated an innovative surgical approach involving FENCY ligation and the role of preoperative embolization in the resection of giant PNF.Methods: This was a retrospective,interventional,and sequential case series conducted in a plastic and reconstructive surgery unit.We summarized all patients with PNF who underwent resection at our center between2019 and 2024.Surgical case notes from 11 patients with giant PNF who underwent FENCY ligation were reviewed,including three patients who received preoperative embolization.All patients participated in structured telephone interviews.Patient demographics,surgical safety,postoperative recovery,and patient satisfaction were evaluated.Results: Among 456 patients with 494 PNF who underwent surgical resection,we categorized the procedures into median,large,and giant PNF subgroups.To illustrate comprehensive perioperative and surgical approaches,we analyzed seven female and four male patients with giant PNF.The median maximum tumor diameter at the time of surgery was 30.4 cm(range,11.5–55.6 cm).Most PNF were located on the face(63.6%),followed by the back(18.2%),buttocks(18.2%),upper limbs(9.1%),and neck(9.1%).The median intraoperative hemorrhage volume was 366 m L(range,10–2 034 m L),And the median hospital stay was 17 days(range,14–33 days).The mean follow-up duration was 2.5 years(range,0.4–5.5 years).No severe complications were observed,except for one case of infection.Conclusion: PNF resection,particularly giant PNF resection,is a high-risk treatment option.Comprehensive evaluation,perioperative preparation,and surgical techniques are required to ensure efficacy and safety.FENCY ligation and preoperative embolization can be used to resect giant PNF in multiple complex regions with satisfactory outcomes.展开更多
Dear Editor,Neurofibromatosis type 1(NF-1)is an autosomal dominant,complex multi-system disorder that primarily affects the skin and nervous system.It is characterized by mutations in the NF1 gene on chromosome 17,lea...Dear Editor,Neurofibromatosis type 1(NF-1)is an autosomal dominant,complex multi-system disorder that primarily affects the skin and nervous system.It is characterized by mutations in the NF1 gene on chromosome 17,leading to abnormal production of neurofibromin protein.Common symptoms include caféau lait spots,Lisch nodules,neurofibromas,plexiform neurofibromas,scoliosis,vision disorders,and learning and mental disabilities[1].Managing NF-1 can be challenging because it is a lifelong disorder in which chronic pain is a prominent feature;consequently,opioids are prescribed and somnolence is frequently reported.Surgical interventions to remove tumors can also result in long-term physical impairments[2].In recent years,new treatments like Selumetinib(Koselugo)have been approved.However,its effectiveness is mainly limited to children,and it can cause adverse effects like vomiting,raised creatinine phosphokinase,dry skin,and diarrhea[3].展开更多
Neurofibromatosis type 1(NF1)is one of the most common genetic disorders that predisposes patients to benign and malignant tumors of the peripheral nervous system.Plexiform and cutaneous neurofibromas are NF1-associat...Neurofibromatosis type 1(NF1)is one of the most common genetic disorders that predisposes patients to benign and malignant tumors of the peripheral nervous system.Plexiform and cutaneous neurofibromas are NF1-associated benign tumors.Despite their benign nature,they can cause tremendous morbidity in patients with NF1.Therapeutic drug options are limited to the MEK inhibitor,selumetinib,which is the only approved drug for pediatric patients with plexiform neurofibromas.Antifibrotic strategies have substantial therapeutic potential for NF1-associated neurofibromas.This review discusses the fibrotic features of plexiform and cutaneous neurofi-bromas focusing on the pathological composition of the extracellular matrix.It also highlights the core pathways implicated in the biochemical and biophysical regulation of the extracellular matrix remodeling in tumor imitation and progression.Finally,this review provides a brief outlook on how exploring novel vulnerabilities residing in the aberrant extracellular matrix and their underlying pathways can benefit the treatment of NF1-associated neurofibromas.展开更多
Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type 1 （Nf1, yon Recklinghausen＇s disease）. Solitary neurofibromas of the colon are extremely rare...Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type 1 （Nf1, yon Recklinghausen＇s disease）. Solitary neurofibromas of the colon are extremely rare. We describe a case of an isolated neurofibroma that was found in the large bowel of a patient who suffered from segmental colitis and presented with bloody diarrhea. A review of the literature is also included, concerning the disclosure of isolated neurofibromas in the gut and other body parts and the type of gastrointestinal involvement in von Recklinghausen＇s disease.展开更多
BACKGROUND Gastrointestinal neurofibromas are commonly found in patients diagnosed with neurofibromatosis type 1.However,isolated gastrointestinal neurofibromas are a rare entity and only fourteen cases of isolated co...BACKGROUND Gastrointestinal neurofibromas are commonly found in patients diagnosed with neurofibromatosis type 1.However,isolated gastrointestinal neurofibromas are a rare entity and only fourteen cases of isolated colorectal neurofibromas have been documented in literature.Isolated gastrointestinal neurofibromas have not been associated with Lynch syndrome(LS).Patients with LS are at an increased risk of colorectal cancer,and are recommended to undergo screening colonoscopy.CASE SUMMARY A 33-year-old healthy female with a family history of LS was found to have unresectable polyp in the ascending colon on screening colonoscopy suspicious for malignancy.The patient was asymptomatic and had no stigmata of neurofibromatosis.A staging workup for colorectal cancer revealed no evidence of metastatic disease.A discussion with the patient resulted in the decision to undergo a segmental resection with ongoing surveillance.The patient underwent a laparoscopic right hemicolectomy.Histopathology was consistent with a gastrointestinal neurofibroma.Post-operatively,the patient recovered well.She will not require further treatment with regards to her colonic neurofibroma,but will continue to follow-up for ongoing surveillance of her LS.CONCLUSION We present the first case of an isolated colonic neurofibroma in a patient with LS.This case explores considerations for the management of isolated gastrointestinal neurofibromas given the lack of guidelines in literature.展开更多
BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components.They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1.Isolated colonic ...BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components.They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1.Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity.Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy.CASE SUMMARY Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm×1.4 cm lesion in the colon.Tissue biopsy revealed a spindle cell tumor.Magnetic resonance imaging of the pelvis was negative for adenopathy.He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm×15.2 cm in the submucosa with no communication with muscularis mucosa or propria.Immunohistochemistry staining of the tumor was strongly positive for S100,with rare penetrating axons deep within the tumor.Tumor cells were negative for c-kit and desmin and had low Ki-67 index.These findings were consistent with a solitary colonic submucosal neurofibroma.A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis.He underwent transanal surgical resection of the tumor.The patient tolerated the procedure well without any complications.CONCLUSION While neurofibromas have been well described in literature,an isolated colonic neurofibroma is a rare pathological entity.Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes.We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.展开更多
Plexiform angiomyxoid myofibroblastic tumor of the stomach is a unique mesenchymal tumor that we first described in 2007.The tumor is very rare,and to date,only 18 cases confirmed by immunohistochemistry have been rep...Plexiform angiomyxoid myofibroblastic tumor of the stomach is a unique mesenchymal tumor that we first described in 2007.The tumor is very rare,and to date,only 18 cases confirmed by immunohistochemistry have been reported in the literature.The patients' ages ranged from 7 to 75 years(mean,43 years),and the male-to-female ratio was approximately 1:1.Representative clinical symptoms are ulceration,associated upper gastrointestinal bleeding(hematemesis),and anemia.The tumors are located at the antrum in all cases,and grossly,the tumor is whitish to brownish or reddish,and forms a lobulated submucosal or transmural mass.Microscopically,the tumor is characterized by a plexiform growth pattern,the proliferation of cytologically bland spindle cells,and a myxoid stroma that is rich in small vessels and positive for Alcian blue stain.Immunohistochemically,the tumor cells are positive for α-smooth muscle actin and negative for KIT and CD34.Differential diagnoses include gastrointestinal stromal tumor and other mesenchymal tumors of the gastrointestinal tract.Some authors proposed that this tumor should be designated as "plexiform fibromyxoma",but this designation might cause confusion.The tumor is probably benign and thus far,neither recurrence nor metastasis has been reported.展开更多
A 66-year-old man was diagnosed with a gastric submucosal tumor. Endoscopic ultrasound(EUS) revealed an iso/hypoechoic mass in the third layer. No malignant cells were detected in a histological examination. Yearly fo...A 66-year-old man was diagnosed with a gastric submucosal tumor. Endoscopic ultrasound(EUS) revealed an iso/hypoechoic mass in the third layer. No malignant cells were detected in a histological examination. Yearly follow-up endoscopy and EUS showed the slow growth of the tumor. Endoscopic submucosal dissection(ESD) was performed and a glistening tumor was resected. The lesion showed a multinodular plexiform growth pattern consisting of spindle cells with an abundant fibromyxoid stroma that was rich in small vessels. The tumor was diagnosed as plexiform fibromyxoma(PF) by immunohistochemistry. Although difficulties are associated with reaching a diagnosis preoperatively, chronological changes on EUS may contribute to the diagnosis of PF. ESD may also be useful in the diagnosis and treatment of PF.展开更多
Plexiform fibromyxoma is a very rare mesenchymal tumor of the stomach, found almost exclusively in the antrum/pylorus region. The most common presenting symptoms are anemia, hematemesis, nausea and unintentional weigh...Plexiform fibromyxoma is a very rare mesenchymal tumor of the stomach, found almost exclusively in the antrum/pylorus region. The most common presenting symptoms are anemia, hematemesis, nausea and unintentional weight loss, without sex or age predilection. We describe here two cases of plexiform fibromyxoma, involving a 16-year-old female and a 34-year-old male. Both patients underwent complete resection(R0) by distal gastrectomy and retrocolic gastrojejunostomy(according to Billroth 2); for both, the postoperative course was uneventful. Histology showed multiple intramural and subserosal nodules with characteristic plexiform growth, featuring bland spindle cells situated in an abundant myxoid stroma with low mitotic activity. Immunohistochemistry showed α-smooth muscle actin-positive spindle cells, focal positivity for CD10, and negative staining for KIT, DOG1, CD34, S100, β-catenin, STAT-6 and anaplastic lymphoma kinase. One of the cases showed focal positivity for h-caldesmon and desmin. Upon followup, no sign of disease was found. In the differential diagnosis of plexiform fibromyxoma, it is important to exclude the more common gastrointestinal stromal tumors as they have greater potential for aggressivebehavior. Other lesions, like neuronal and vascular tumors, inflammatory fibroid polyps, abdominal desmoid-type fibromatosis, solitary fibrous tumors and smooth muscle tumors, must also be excluded.展开更多
Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezi...Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezing was admitted to our institution for the further evaluation of a right mediastinal mass on plain chest radiography. On examination, there were multiple café au lait spots mainly on the trunk, and a well-defined, immobile, painless mass was palpable on her neck. The mediastinal lesion was detected as nonuniform mass surrounding the aortic arch, pulmonary artery, and right main bronchus on the contrast-enhanced CT and MRI. Open biopsy was useful to rule out malignancy and revealed neurofibroma, and contributed to follow up and treatment. Discussion: Open biopsy was useful to rule out malignancy, such as malignant peripheral nerve sheath tumor, revealed neurofibroma, and also contributed to follow up and treatment. The authors report successful management by open biopsy and discuss several clinical points regarding mediastinal neurofibroma for NF1.展开更多
BACKGROUND Plexiform fibromyxoma(PF)is a rare mesenchymal tumor of the stomach.The clinical features of PF frequently include upper abdominal pain,abdominal discomfort,hematemesis,melena,pyloric obstruction and an upp...BACKGROUND Plexiform fibromyxoma(PF)is a rare mesenchymal tumor of the stomach.The clinical features of PF frequently include upper abdominal pain,abdominal discomfort,hematemesis,melena,pyloric obstruction and an upper abdominal mass.We herein report a case of PF resected by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy.CASE SUMMARY The patient was admitted to hospital,due to a 1-wk history of an abdominal space-occupying lesion identified during a health examination.He underwent complete resection by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy.During the operation,the tumor was located in the anterior wall of the gastric antrum(approximately 7 cm×6 cm×5.5 cm)and did not show evidence of invasion of the serosa.Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells,with numerous thin-walled blood vessels and abundant myxoid stroma.Cellular atypia and mitosis were both rare.Immunohistochemistry showed that the tumor cells were immunoreactive for smooth muscle actin,S-100 and CD-10,but were negative for CD-117,CD-34,DOG-1,and ALK.In this case,S-100 was positive and no significant disease was observed during the follow-up period.CONCLUSION The fact that PF is a rare tumor with only a few cases in this region can lead to misdiagnosis of this entity and pose a real diagnostic challenge for general surgeons and pathologists when encountering such patients and differentiating PF from other primary tumors of gastric mesenchymal origin.Our report may help increase awareness of this rare,but important new disease entity.展开更多
The objectives of this study were to assess the safety and efficacy of intralesionally administered diclofenac in the treatment of cutaneous neurofibromas in patients with NF1. This was a proof-of-concept, prospective...The objectives of this study were to assess the safety and efficacy of intralesionally administered diclofenac in the treatment of cutaneous neurofibromas in patients with NF1. This was a proof-of-concept, prospective, safety and efficacy study of the effect of intralesionally administered diclofenac 25 mg/ml given once a week to 3 target cutaneous neurofibromas for 4 consecutive weeks. Overall, there was no significant change in neurofibroma size. During the study, some treated lesions developed signs of necrosis and fell off after a few weeks, but none of the control neurofibromas fell off. There were no significant changes in patient’s vital signs. A few adverse events occurred, mostly at the injection sites. During the study, some neurofibromas developed necrosis after the diclofenac injections and eventually detached from the patient. Overall, diclofenac was well tolerated, suggesting minimal systemic exposure, which required confirmation and further studies, including bioavailability analysis.展开更多
Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been reported. Isolated neurofibroma of pinna without neurofibromatosis has not been reported in the lit...Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been reported. Isolated neurofibroma of pinna without neurofibromatosis has not been reported in the literature so far. Neurofibromas may develop anywhere in the body, including cranial and peripheral nerves. The type of impairment associated with neurofibromas depends largely on the site of the lesion. Cutaneous lesions, especially in the head and neck, generally cause deformity, whereas lesions that affect deeper systems (e.g., the auditory and ocular systems) are more likely to cause functional impairment. Usually found in individuals with neurofibromatosis, we report a case of neurofibroma of pinna in a patient without展开更多
BACKGROUND Neurofibromatosis(NF)is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation;such disease sometimes arises in patients with NF type 1.However,it...BACKGROUND Neurofibromatosis(NF)is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation;such disease sometimes arises in patients with NF type 1.However,it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1,as no reports have been published on this issue.Here,we report a case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.CASE SUMMARY A 51-year-old male was admitted to our hospital due to fever accompanied by coughing,chest tightness and asthma for more than one month.The preliminary diagnosis was NF type 1,which was pathologically confirmed by a subsequent thoracoabdominal subcutaneous biopsy.The definitive diagnosis was neurofibrosarcoma with a pathogenic NF1 gene.The patient refused surgery and chemoradiotherapy,and died two months later.NF is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation.The case reported belongs to the class of NF1-positive dominant inheritance.Neurofibrosarcoma is a malignant tumor derived from cells surrounding the peripheral nerves.However,due to the lack of previous reports,it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1.CONCLUSION We report the first case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.展开更多
BACKGROUND Plexiform fibromyxoma is a rare, special type of mesenchymal tumor. The most common presenting symptoms are anemia, hematemesis, and hematochezia, without sex or age predilection. The reported cases have ma...BACKGROUND Plexiform fibromyxoma is a rare, special type of mesenchymal tumor. The most common presenting symptoms are anemia, hematemesis, and hematochezia, without sex or age predilection. The reported cases have mainly occurred in the gastric antrum and pylorus region, with some cases in the duodenum. CASE SUMMARY We report here a case of plexiform fibromyxoma in the upper segment of the jejunum, which was continuously followed up for 3 years after surgical removal. Plexiform fibromyxoma showed multinodular or plexiform growth. The cells in the tumor node were spindle-shaped but few in number and mitotic figures. Small blood vessels and mucous matrix were found among the tumor cells. Immunohistochemistry revealed that the plexiform fibromyxoma cells were positive for smooth muscle actin, focally positive for CD10, and negative for cytokeratin, CD117, DOG-1(discovered on GIST-1) desmin, S-100, epithelial membrane antigen, and CD34. Ki-67 labeling index was < 5%. Plexiform fibromyxoma showed benign biological behavior. After 3 years of consecutive postoperative follow-up, no obvious signs of metastasis or recurrence were found by imaging examination. CONCLUSION Plexiform fibromyxoma is a rare type of mesenchymal tumor. The diagnosis mainly depends on pathological examination, and it should be distinguished from other gastrointestinal mesenchymal tumors.展开更多
文摘Background:Currently,no worldwide approved therapies exist for adults with neurofibromatosis type 1(NF1)and symptomatic,inoperable plexiform neurofibromas.The KOMET study aimed to evaluate selumetinib(ARRY-142886,AZD6244)efficacy and safety in this population.Methods:This ongoing multicentre,international,randomised,placebo-controlled,phase 3,parallel,double-blind trial randomly assigned adults with NF1-plexiform neurofibroma 1:1 to 28-day cycles of oral selumetinib 25 mg/m2 twice daily,or placebo with crossover to selumetinib at confirmed radiological progression or the end of cycle 12.
文摘Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has not been reported in the literatures.Here we present a case of solitary PN of the stomach,which was not associated with von Recklinghausen disease.A38-year-old male presented abdominal pain and distention for 7 d.The patient underwent endoscopy of the upper gastrointestinal tract,which revealed a 3.5 cm protruding and cauliflower-shaped mass with a shallow1 cm central ulcer in the greater curvature of the stomach.The lesion was removed by laparoscopic surgery.Histological examination demonstrated characteristic histological findings of spindle-shaped cells.Immunohistochemical analysis showed that the tumor cells were positive for S-100 protein,but negative for CD34,KI-67,CD117,and actin.Based on histological findings,gastrointestinal stromal tumor could be excluded,and thus the case was confirmed as PN.We described the clinical features,physical examination,endoscopic findings,and histopathological examination of this case.
文摘BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neurofibromatosis(CENF)have been reported up-to-date.CASE SUMMARY We describe a case of a 55-year-old man with a 10 years history of progressive lower extremities weakness and bladder dysfunction.Before presenting,patient was misdiagnosed with idiopathic polyneuropathy.Lumbar spine MRI revealed a tortuous tumorous masses in the cauda equina region,extending through the Th12-L4 vertebrae.The patient underwent Th12-L3 Laminectomy with duraplasty.During the operation,the most enlarged electroneurographically silent nerve root was resected,anticipating inadequate decompression if nerve root was spared.The patient’s neurological condition improved post-operatively,but urinary retention became the major complaint.We provide a follow-up period of 10 years.During this time,the patient’s condition progressively worsened despite extensive decompression.The consequent MRI scans showed progressive enlargement of cauda equina roots and increasing lumbar stenosis,predominantly affecting L3-L4 segment.During the follow-up 8 years after the operation,the patient complained of worsening lower extremities sensorimotor function and neurogenic claudication.Subsequent MRI revealed lumbar spine stenosis at the level of L3-L4,requiring further decompression.The patient underwent a second surgery involving L4-L5 Laminectomy with duraplasty and L2-L5 transpedicular fixation.The post-operative period was uneventful.Latest follow-up 18 mo after the second surgery revealed substantial improvement in patient’s well-being.CONCLUSION CENF should be kept in mind during the differential diagnostic work-up for polyneuropathies.Management with an extensive decompression,duraplasty and primary spinal fixation represents a rational approach to achieve a sustained symptomatic improvement and superior overall outcome.
文摘Solitary intraparotid facial nerve plexiform neurofibromas are extremely rare. These tumors arise from Schwann cells. The plexiform variant is recognized by tortuous and multinodular gross and microscopic lesions. It has a high risk of malignant transformation. We report a case of a solitary plexiform neurofibroma in a 5-year-old Italian male, who initially presented a right parotid mass of four-month duration. He had not pain, trismus, facial weakness or previous trauma. There was not familiar history of Von Recklinghausen’s disease. TC and MRI scans revealed a mass in the superficial lobe of the parotid gland. A partial parotidectomy was performed. Histopatological examination indicated plexiform neurofibroma. The incidence, presentation, diagnosis and surgical treatment of this lesion are discussed. In our case, the tumor could be readily separated from the main trunk, and facial movement was completely preserved owing to the rich neural network around the mass.
文摘Neurogenic tumor is the name given to any tumor that arises from the nerve tissue or its coverings. Neurogenic tumors of Sino-nasal cavity are a very rare entity. The most common types are Schwannomas and Neurofibromas and the plexiform subtype is one form of these neuroendocrine tumors. We report the case series of two such cases of a plexiform neurofibroma of the nasal tip, which were excised via an open rhinoplasty approach.
基金supported by grants from the National Natural Science Foundation of China (grant nos.82472579,82172228,and 82202470)Shanghai Plastic Surgery Research Center of Shanghai Priority Research Center (grant no.2023ZZ02023)+2 种基金Shanghai Clinical Research Center of Plastic and Reconstructive Surgery supported by the Science and Technology Commission of Shanghai Municipality (grant no.22MC1940300)Project of Biobank (grant no.YBKA202204) from Shanghai Ninth People’s Hospital of Shanghai Jiao Tong University School of MedicineCross-Disciplinary Research Fund of Shanghai Ninth People’s Hospital of Shanghai Jiao Tong University School of Medicine (grant no.JYJC202407)。
文摘Background: Plexiform neurofibromas(PNF) are highly vascular tumors with the potential for significant growth.Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.This study proposed and evaluated an innovative surgical approach involving FENCY ligation and the role of preoperative embolization in the resection of giant PNF.Methods: This was a retrospective,interventional,and sequential case series conducted in a plastic and reconstructive surgery unit.We summarized all patients with PNF who underwent resection at our center between2019 and 2024.Surgical case notes from 11 patients with giant PNF who underwent FENCY ligation were reviewed,including three patients who received preoperative embolization.All patients participated in structured telephone interviews.Patient demographics,surgical safety,postoperative recovery,and patient satisfaction were evaluated.Results: Among 456 patients with 494 PNF who underwent surgical resection,we categorized the procedures into median,large,and giant PNF subgroups.To illustrate comprehensive perioperative and surgical approaches,we analyzed seven female and four male patients with giant PNF.The median maximum tumor diameter at the time of surgery was 30.4 cm(range,11.5–55.6 cm).Most PNF were located on the face(63.6%),followed by the back(18.2%),buttocks(18.2%),upper limbs(9.1%),and neck(9.1%).The median intraoperative hemorrhage volume was 366 m L(range,10–2 034 m L),And the median hospital stay was 17 days(range,14–33 days).The mean follow-up duration was 2.5 years(range,0.4–5.5 years).No severe complications were observed,except for one case of infection.Conclusion: PNF resection,particularly giant PNF resection,is a high-risk treatment option.Comprehensive evaluation,perioperative preparation,and surgical techniques are required to ensure efficacy and safety.FENCY ligation and preoperative embolization can be used to resect giant PNF in multiple complex regions with satisfactory outcomes.
文摘Dear Editor,Neurofibromatosis type 1(NF-1)is an autosomal dominant,complex multi-system disorder that primarily affects the skin and nervous system.It is characterized by mutations in the NF1 gene on chromosome 17,leading to abnormal production of neurofibromin protein.Common symptoms include caféau lait spots,Lisch nodules,neurofibromas,plexiform neurofibromas,scoliosis,vision disorders,and learning and mental disabilities[1].Managing NF-1 can be challenging because it is a lifelong disorder in which chronic pain is a prominent feature;consequently,opioids are prescribed and somnolence is frequently reported.Surgical interventions to remove tumors can also result in long-term physical impairments[2].In recent years,new treatments like Selumetinib(Koselugo)have been approved.However,its effectiveness is mainly limited to children,and it can cause adverse effects like vomiting,raised creatinine phosphokinase,dry skin,and diarrhea[3].
文摘Neurofibromatosis type 1(NF1)is one of the most common genetic disorders that predisposes patients to benign and malignant tumors of the peripheral nervous system.Plexiform and cutaneous neurofibromas are NF1-associated benign tumors.Despite their benign nature,they can cause tremendous morbidity in patients with NF1.Therapeutic drug options are limited to the MEK inhibitor,selumetinib,which is the only approved drug for pediatric patients with plexiform neurofibromas.Antifibrotic strategies have substantial therapeutic potential for NF1-associated neurofibromas.This review discusses the fibrotic features of plexiform and cutaneous neurofi-bromas focusing on the pathological composition of the extracellular matrix.It also highlights the core pathways implicated in the biochemical and biophysical regulation of the extracellular matrix remodeling in tumor imitation and progression.Finally,this review provides a brief outlook on how exploring novel vulnerabilities residing in the aberrant extracellular matrix and their underlying pathways can benefit the treatment of NF1-associated neurofibromas.
文摘Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type 1 （Nf1, yon Recklinghausen＇s disease）. Solitary neurofibromas of the colon are extremely rare. We describe a case of an isolated neurofibroma that was found in the large bowel of a patient who suffered from segmental colitis and presented with bloody diarrhea. A review of the literature is also included, concerning the disclosure of isolated neurofibromas in the gut and other body parts and the type of gastrointestinal involvement in von Recklinghausen＇s disease.
文摘BACKGROUND Gastrointestinal neurofibromas are commonly found in patients diagnosed with neurofibromatosis type 1.However,isolated gastrointestinal neurofibromas are a rare entity and only fourteen cases of isolated colorectal neurofibromas have been documented in literature.Isolated gastrointestinal neurofibromas have not been associated with Lynch syndrome(LS).Patients with LS are at an increased risk of colorectal cancer,and are recommended to undergo screening colonoscopy.CASE SUMMARY A 33-year-old healthy female with a family history of LS was found to have unresectable polyp in the ascending colon on screening colonoscopy suspicious for malignancy.The patient was asymptomatic and had no stigmata of neurofibromatosis.A staging workup for colorectal cancer revealed no evidence of metastatic disease.A discussion with the patient resulted in the decision to undergo a segmental resection with ongoing surveillance.The patient underwent a laparoscopic right hemicolectomy.Histopathology was consistent with a gastrointestinal neurofibroma.Post-operatively,the patient recovered well.She will not require further treatment with regards to her colonic neurofibroma,but will continue to follow-up for ongoing surveillance of her LS.CONCLUSION We present the first case of an isolated colonic neurofibroma in a patient with LS.This case explores considerations for the management of isolated gastrointestinal neurofibromas given the lack of guidelines in literature.
文摘BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components.They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1.Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity.Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy.CASE SUMMARY Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm×1.4 cm lesion in the colon.Tissue biopsy revealed a spindle cell tumor.Magnetic resonance imaging of the pelvis was negative for adenopathy.He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm×15.2 cm in the submucosa with no communication with muscularis mucosa or propria.Immunohistochemistry staining of the tumor was strongly positive for S100,with rare penetrating axons deep within the tumor.Tumor cells were negative for c-kit and desmin and had low Ki-67 index.These findings were consistent with a solitary colonic submucosal neurofibroma.A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis.He underwent transanal surgical resection of the tumor.The patient tolerated the procedure well without any complications.CONCLUSION While neurofibromas have been well described in literature,an isolated colonic neurofibroma is a rare pathological entity.Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes.We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.
文摘Plexiform angiomyxoid myofibroblastic tumor of the stomach is a unique mesenchymal tumor that we first described in 2007.The tumor is very rare,and to date,only 18 cases confirmed by immunohistochemistry have been reported in the literature.The patients' ages ranged from 7 to 75 years(mean,43 years),and the male-to-female ratio was approximately 1:1.Representative clinical symptoms are ulceration,associated upper gastrointestinal bleeding(hematemesis),and anemia.The tumors are located at the antrum in all cases,and grossly,the tumor is whitish to brownish or reddish,and forms a lobulated submucosal or transmural mass.Microscopically,the tumor is characterized by a plexiform growth pattern,the proliferation of cytologically bland spindle cells,and a myxoid stroma that is rich in small vessels and positive for Alcian blue stain.Immunohistochemically,the tumor cells are positive for α-smooth muscle actin and negative for KIT and CD34.Differential diagnoses include gastrointestinal stromal tumor and other mesenchymal tumors of the gastrointestinal tract.Some authors proposed that this tumor should be designated as "plexiform fibromyxoma",but this designation might cause confusion.The tumor is probably benign and thus far,neither recurrence nor metastasis has been reported.
文摘A 66-year-old man was diagnosed with a gastric submucosal tumor. Endoscopic ultrasound(EUS) revealed an iso/hypoechoic mass in the third layer. No malignant cells were detected in a histological examination. Yearly follow-up endoscopy and EUS showed the slow growth of the tumor. Endoscopic submucosal dissection(ESD) was performed and a glistening tumor was resected. The lesion showed a multinodular plexiform growth pattern consisting of spindle cells with an abundant fibromyxoid stroma that was rich in small vessels. The tumor was diagnosed as plexiform fibromyxoma(PF) by immunohistochemistry. Although difficulties are associated with reaching a diagnosis preoperatively, chronological changes on EUS may contribute to the diagnosis of PF. ESD may also be useful in the diagnosis and treatment of PF.
文摘Plexiform fibromyxoma is a very rare mesenchymal tumor of the stomach, found almost exclusively in the antrum/pylorus region. The most common presenting symptoms are anemia, hematemesis, nausea and unintentional weight loss, without sex or age predilection. We describe here two cases of plexiform fibromyxoma, involving a 16-year-old female and a 34-year-old male. Both patients underwent complete resection(R0) by distal gastrectomy and retrocolic gastrojejunostomy(according to Billroth 2); for both, the postoperative course was uneventful. Histology showed multiple intramural and subserosal nodules with characteristic plexiform growth, featuring bland spindle cells situated in an abundant myxoid stroma with low mitotic activity. Immunohistochemistry showed α-smooth muscle actin-positive spindle cells, focal positivity for CD10, and negative staining for KIT, DOG1, CD34, S100, β-catenin, STAT-6 and anaplastic lymphoma kinase. One of the cases showed focal positivity for h-caldesmon and desmin. Upon followup, no sign of disease was found. In the differential diagnosis of plexiform fibromyxoma, it is important to exclude the more common gastrointestinal stromal tumors as they have greater potential for aggressivebehavior. Other lesions, like neuronal and vascular tumors, inflammatory fibroid polyps, abdominal desmoid-type fibromatosis, solitary fibrous tumors and smooth muscle tumors, must also be excluded.
文摘Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezing was admitted to our institution for the further evaluation of a right mediastinal mass on plain chest radiography. On examination, there were multiple café au lait spots mainly on the trunk, and a well-defined, immobile, painless mass was palpable on her neck. The mediastinal lesion was detected as nonuniform mass surrounding the aortic arch, pulmonary artery, and right main bronchus on the contrast-enhanced CT and MRI. Open biopsy was useful to rule out malignancy and revealed neurofibroma, and contributed to follow up and treatment. Discussion: Open biopsy was useful to rule out malignancy, such as malignant peripheral nerve sheath tumor, revealed neurofibroma, and also contributed to follow up and treatment. The authors report successful management by open biopsy and discuss several clinical points regarding mediastinal neurofibroma for NF1.
文摘BACKGROUND Plexiform fibromyxoma(PF)is a rare mesenchymal tumor of the stomach.The clinical features of PF frequently include upper abdominal pain,abdominal discomfort,hematemesis,melena,pyloric obstruction and an upper abdominal mass.We herein report a case of PF resected by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy.CASE SUMMARY The patient was admitted to hospital,due to a 1-wk history of an abdominal space-occupying lesion identified during a health examination.He underwent complete resection by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy.During the operation,the tumor was located in the anterior wall of the gastric antrum(approximately 7 cm×6 cm×5.5 cm)and did not show evidence of invasion of the serosa.Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells,with numerous thin-walled blood vessels and abundant myxoid stroma.Cellular atypia and mitosis were both rare.Immunohistochemistry showed that the tumor cells were immunoreactive for smooth muscle actin,S-100 and CD-10,but were negative for CD-117,CD-34,DOG-1,and ALK.In this case,S-100 was positive and no significant disease was observed during the follow-up period.CONCLUSION The fact that PF is a rare tumor with only a few cases in this region can lead to misdiagnosis of this entity and pose a real diagnostic challenge for general surgeons and pathologists when encountering such patients and differentiating PF from other primary tumors of gastric mesenchymal origin.Our report may help increase awareness of this rare,but important new disease entity.
文摘The objectives of this study were to assess the safety and efficacy of intralesionally administered diclofenac in the treatment of cutaneous neurofibromas in patients with NF1. This was a proof-of-concept, prospective, safety and efficacy study of the effect of intralesionally administered diclofenac 25 mg/ml given once a week to 3 target cutaneous neurofibromas for 4 consecutive weeks. Overall, there was no significant change in neurofibroma size. During the study, some treated lesions developed signs of necrosis and fell off after a few weeks, but none of the control neurofibromas fell off. There were no significant changes in patient’s vital signs. A few adverse events occurred, mostly at the injection sites. During the study, some neurofibromas developed necrosis after the diclofenac injections and eventually detached from the patient. Overall, diclofenac was well tolerated, suggesting minimal systemic exposure, which required confirmation and further studies, including bioavailability analysis.
文摘Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been reported. Isolated neurofibroma of pinna without neurofibromatosis has not been reported in the literature so far. Neurofibromas may develop anywhere in the body, including cranial and peripheral nerves. The type of impairment associated with neurofibromas depends largely on the site of the lesion. Cutaneous lesions, especially in the head and neck, generally cause deformity, whereas lesions that affect deeper systems (e.g., the auditory and ocular systems) are more likely to cause functional impairment. Usually found in individuals with neurofibromatosis, we report a case of neurofibroma of pinna in a patient without
文摘BACKGROUND Neurofibromatosis(NF)is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation;such disease sometimes arises in patients with NF type 1.However,it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1,as no reports have been published on this issue.Here,we report a case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.CASE SUMMARY A 51-year-old male was admitted to our hospital due to fever accompanied by coughing,chest tightness and asthma for more than one month.The preliminary diagnosis was NF type 1,which was pathologically confirmed by a subsequent thoracoabdominal subcutaneous biopsy.The definitive diagnosis was neurofibrosarcoma with a pathogenic NF1 gene.The patient refused surgery and chemoradiotherapy,and died two months later.NF is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation.The case reported belongs to the class of NF1-positive dominant inheritance.Neurofibrosarcoma is a malignant tumor derived from cells surrounding the peripheral nerves.However,due to the lack of previous reports,it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1.CONCLUSION We report the first case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.
文摘BACKGROUND Plexiform fibromyxoma is a rare, special type of mesenchymal tumor. The most common presenting symptoms are anemia, hematemesis, and hematochezia, without sex or age predilection. The reported cases have mainly occurred in the gastric antrum and pylorus region, with some cases in the duodenum. CASE SUMMARY We report here a case of plexiform fibromyxoma in the upper segment of the jejunum, which was continuously followed up for 3 years after surgical removal. Plexiform fibromyxoma showed multinodular or plexiform growth. The cells in the tumor node were spindle-shaped but few in number and mitotic figures. Small blood vessels and mucous matrix were found among the tumor cells. Immunohistochemistry revealed that the plexiform fibromyxoma cells were positive for smooth muscle actin, focally positive for CD10, and negative for cytokeratin, CD117, DOG-1(discovered on GIST-1) desmin, S-100, epithelial membrane antigen, and CD34. Ki-67 labeling index was < 5%. Plexiform fibromyxoma showed benign biological behavior. After 3 years of consecutive postoperative follow-up, no obvious signs of metastasis or recurrence were found by imaging examination. CONCLUSION Plexiform fibromyxoma is a rare type of mesenchymal tumor. The diagnosis mainly depends on pathological examination, and it should be distinguished from other gastrointestinal mesenchymal tumors.
