The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of al...The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses,even when clinical evidence suggests otherwise.Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar tumor.Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma.Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures.Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors,the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis.Based on the biological and anatomical properties of the sella turcica and its surrounding structures,the nature,order of manifestation,and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable.It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT(the“Yu rule”).展开更多
Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years ...Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years after diagnosis.The best clinical evidence suggests that surgical debulking and timely adjuvant chemoradiation are most effective in prolonging survival.A preoperative radiological diagnosis of sellar AT/RT thus is crucial in informing patients and physicians about this devastating disease.This minireview summaries the imaging features of sellar AT/RT.magnetic resonance imaging features of sellar AT/RT and the much more common sellar mass,pituitary macroadenoma,are similar in most aspects:They are both isointense to brain gray matter on T1 and T2 imaging and enhance upon gadolinium administration.Suprasellar extension and cavernous sinus invasion are present in practically all cases of sellar AT/RT,but are also present in 50%-75%of pituitary macroadenomas,especially in large ones,suggesting that suprasellar extension and cavernous sinus invasion disproportionate to the tumor size may favor sellar AT/RT diagnosis.Since sellar AT/RT grows very rapidly and does not allow significant remodeling of perisellar structures,the imaging features of perisellar structures such as optic chiasm and cavernous sinus may be key for imaging diagnosis of sellar AT/RT although they have not been well described in sellar AT/RT.In limited cases of sellar AT/RT,optic chiasm degeneration and thinning,which are very common in pituitary macroadenoma,are not present,giving hope for using features of perisellar structures to diagnose sellar AT/RT by imaging.展开更多
BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different p...BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different patterns of growth have been reported.CASE SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and vomiting.Imaging showed a pancreatic head mass.Fine needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary neoplasm.The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of SMARCB1 protein expression with wild-type KRAS,consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma.The patient’s condition deteriorated rapidly following surgery and she expired 3 mo post operation.CONCLUSION In this article,we report the first case of SMARCB1/INI1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.展开更多
Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epitheli...Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.展开更多
BACKGROUND Rhabdoid tumours of the central nervous system are highly malignant and extremely rare in adults.To the best of our knowledge,only 87 cases of malignant rhabdoid tumour have been reported to date,inclusive ...BACKGROUND Rhabdoid tumours of the central nervous system are highly malignant and extremely rare in adults.To the best of our knowledge,only 87 cases of malignant rhabdoid tumour have been reported to date,inclusive of 4 cases with presumed radiation-induced aetiology.We report a case of malignant rhabdoid tumour in an adult with presumed radiation-induced aetiology to enrich the armamentarium of this disease entity,which may have some implications for early diagnosis and treatment of this rare disease in the future.CASE SUMMARY A 27-year-old male,who was exposed to cranial irradiation at the age of 4 years as part of the treatment for acute lymphoblastic leukaemia,presented with symptoms of raised intracranial pressure for one week.Brain magnetic resonance imaging revealed a heterogeneously enhancing lesion at the hypothalamus.Stereotactic biopsy was performed.Histopathological examination of the lesion showed malignant rhabdoid tumour.The disease progressed rapidly,with manifestation of leptomeningeal spread.He was started on craniospinal irradiation but treatment was suspended after 5.4 Gy,as he developed myelosuppression.His clinical condition deteriorated rapidly,and he succumbed to his illness within 2 mo.CONCLUSION This fifth case of radiation-induced central nervous system rhabdoid tumour reenforces the aggressive nature of this disease with poor prognosis.展开更多
BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition o...BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.展开更多
Introduction Rhabdoid meningioma （RM） is a special type of meningioma, The pathologic features of RM include sheets of rhabdoid tumor cells with or without the findings typical of conventional meningiomas. Since the...Introduction Rhabdoid meningioma （RM） is a special type of meningioma, The pathologic features of RM include sheets of rhabdoid tumor cells with or without the findings typical of conventional meningiomas. Since the disease is rare, and the histologic structure similar to that of other tumors, misdiagnosis and failure to include the entity in the differentiation can occur from time to time. In this article, the pathologic features and immunophenotype of RM are analyzed, in combination with analysis of a case treated at our institution and a review of the literature.展开更多
Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span...Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">rhabdoid tumors are highly malignant, rare </span><span style="font-family:Verdana;">and</span><span style="font-family:Verdana;"> aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show </span><span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> and therapeutic approach through the report of four observations of </span><span style="font-family:Verdana;">rhabdoid</span><span style="font-family:Verdana;"> tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected </span><span style="font-family:Verdana;">over a period of</span><span style="font-family:Verdana;"> 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All </span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">children</span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">have </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">abdominal distention with the discovery of a mass on clinical examination. </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">patients were treated </span><span style="font-family:Verdana;">as</span><span style="font-family:Verdana;"> nephroblastoma by neoadjuvant chemotherapy followed by enlarged total nephrectomy. The pathological study confirmed the diagnosis of a teratoid</span></span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">rhabdoid tumor. Adjuvant chemotherapy was given in all four children combined with radiotherapy in three cases. The evolution was fatal in three children. Malignant rhabdoid tumors are a particular pathological entity requiring a well codified therapeutic protocol to improve survival which does not exceed 15% to 20%.展开更多
Meningiomas occur in 1%-4% of primary intracranial tumors in the pediatric group, and is increasing in incidence with age. Some authors have reported that meningioma is more prevalent among adult males, but there is n...Meningiomas occur in 1%-4% of primary intracranial tumors in the pediatric group, and is increasing in incidence with age. Some authors have reported that meningioma is more prevalent among adult males, but there is no gender prevalence. The accepted origin of meningiomas is from the arachnoid ceils lining the meninges, or the choroid plexuses. Since Beckwith and Palmer introduced the term ＇rhabdoid tumor＇ in 1978 in reference to a subgroup of childhood malignant renal tumors, many tumors with a rhabdoid morphology have been reported in various sites, including the central nervous system. In 1998 Kepes et al.展开更多
Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The ima...Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.展开更多
Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with...Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with AT/RT. Treatment comprised total tumor resection, 6 MV X 3D conformal radiotherapy (DT: 36Gy/18FX) and six courses of chemotherapy, including teniposide 25 mg (qd × 5d), ACNU 25 mg (qd × 1d), vincristine 1 mg (qd × 1d). There was no tumor recurrence after 5 years of follow-up. We adjusted the previous AT/RT regimen to make it more suitable for the individual treatment of this patient, and now the patient has achieved a cure. So we think this regimen is effective and it is worthy of recommendation.展开更多
Natural killer(NK)cells are cytotoxic immune cells that can eliminate target cells without prior stimulation.Human induced pluripotent stem cells(iPSCs)provide a robust source of NK cells for safe and effective cell-b...Natural killer(NK)cells are cytotoxic immune cells that can eliminate target cells without prior stimulation.Human induced pluripotent stem cells(iPSCs)provide a robust source of NK cells for safe and effective cell-based immunotherapy against aggressive cancers.In this in vitro study,a feeder-free iPSC differentiation was performed to obtain iPSC-NK cells,and distinct maturational stages of iPSC-NK were characterized.Mature cells of CD56^(bright)CD16^(bright)phenotype showed upregulation of CD56,CD16,and NK cell activation markers NKG2D and NKp46 upon IL-15 exposure,while exposure to aggressive atypical teratoid/rhabdoid tumor(ATRT)cell lines enhanced NKG2D and NKp46 expression.Malignant cell exposure also increased CD107a degranulation markers and stimulated IFN-γsecretion in activated NK cells.CD56^(bright)CD16^(bright)iPSC-NK cells showed a ratio-dependent killing of ATRT cells,and the percentage lysis of CHLA-05-ATRT was higher than that of CHLA-02-ATRT.The iPSC-NK cells were also cytotoxic against other brain,kidney,and lung cancer cell lines.Further NK maturation yielded CD56^(-ve) CD16^(bright)cells,which lacked activation markers even after exposure to interleukins or ATRT cells-indicating diminished cytotoxicity.Generation and characterization of different NK phenotypes from iPSCs,coupled with their promising anti-tumor activity against ATRT in vitro,offer valuable insights into potential immunotherapeutic strategies for brain tumors.展开更多
Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatm...Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatments have poor prognoses and challenging side effects. The pivotal genetic event in AT/RT pathogenesis comprises the inactivation ofSMARCB1 orSMARCA4. Recent epigenetic studies have demonstrated mutual and subtype-specific epigenetic derangements that drive tumorigenesis;the exploitation of these potential targets might improve the dismal treatment outcomes of AT/RTs. This review aims to summarize the literature concerning targeted molecular therapies for pediatric AT/RTs.展开更多
Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and w...Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.展开更多
Atypical teratoid/rhabdoid tumor(ATRT)is a rare childhood malignancy that originates in the central nervous system.Over ninety-five percent of ATRT patients have biallelic inactivation of the tumor suppressor gene SMA...Atypical teratoid/rhabdoid tumor(ATRT)is a rare childhood malignancy that originates in the central nervous system.Over ninety-five percent of ATRT patients have biallelic inactivation of the tumor suppressor gene SMARCB1.ATRT has no standard treatment,and a major limiting factor in therapeutic development is the lack of reliable ATRT models.We employed CRISPR/Cas9 gene-editing technology to knock out SMARCB1 and TP53 genes in human episomal induced pluripotent stem cells(Epi-iPSCs),followed by brief neural induction,to generate an ATRT-like model.The dual knockout Epi-iPSCs retained their stemness with the capacity to differentiate into three germ layers.High expression of OCT4 and NANOG in neurally induced knockout spheroids was comparable to that in two ATRT cell lines.Beta-catenin protein expression was higher in SMARCB1-deficient cells and spheroids than in normal Epi-iPSC-derived spheroids.Nucleophosmin,Osteopontin,and Ki-67 proteins were also expressed by the SMARCB1-deficient spheroids.In summary,the tumor model resembled embryonal features of ATRT and expressed ATRT biomarkers at mRNA and protein levels.Ribociclib,PTC-209,and the combination of clofilium tosylate and pazopanib decreased the viability of the ATRT-like cells.This disease modeling scheme may enable the establishment of individualized tumor models with patient-specific mutations and facilitate high-throughput drug testing.展开更多
文摘The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses,even when clinical evidence suggests otherwise.Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar tumor.Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma.Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures.Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors,the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis.Based on the biological and anatomical properties of the sella turcica and its surrounding structures,the nature,order of manifestation,and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable.It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT(the“Yu rule”).
文摘Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years after diagnosis.The best clinical evidence suggests that surgical debulking and timely adjuvant chemoradiation are most effective in prolonging survival.A preoperative radiological diagnosis of sellar AT/RT thus is crucial in informing patients and physicians about this devastating disease.This minireview summaries the imaging features of sellar AT/RT.magnetic resonance imaging features of sellar AT/RT and the much more common sellar mass,pituitary macroadenoma,are similar in most aspects:They are both isointense to brain gray matter on T1 and T2 imaging and enhance upon gadolinium administration.Suprasellar extension and cavernous sinus invasion are present in practically all cases of sellar AT/RT,but are also present in 50%-75%of pituitary macroadenomas,especially in large ones,suggesting that suprasellar extension and cavernous sinus invasion disproportionate to the tumor size may favor sellar AT/RT diagnosis.Since sellar AT/RT grows very rapidly and does not allow significant remodeling of perisellar structures,the imaging features of perisellar structures such as optic chiasm and cavernous sinus may be key for imaging diagnosis of sellar AT/RT although they have not been well described in sellar AT/RT.In limited cases of sellar AT/RT,optic chiasm degeneration and thinning,which are very common in pituitary macroadenoma,are not present,giving hope for using features of perisellar structures to diagnose sellar AT/RT by imaging.
文摘BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different patterns of growth have been reported.CASE SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and vomiting.Imaging showed a pancreatic head mass.Fine needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary neoplasm.The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of SMARCB1 protein expression with wild-type KRAS,consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma.The patient’s condition deteriorated rapidly following surgery and she expired 3 mo post operation.CONCLUSION In this article,we report the first case of SMARCB1/INI1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.
基金Supported by Department of Pathology,the University of Texas Health Science Center at Houston,United States
文摘Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.
文摘BACKGROUND Rhabdoid tumours of the central nervous system are highly malignant and extremely rare in adults.To the best of our knowledge,only 87 cases of malignant rhabdoid tumour have been reported to date,inclusive of 4 cases with presumed radiation-induced aetiology.We report a case of malignant rhabdoid tumour in an adult with presumed radiation-induced aetiology to enrich the armamentarium of this disease entity,which may have some implications for early diagnosis and treatment of this rare disease in the future.CASE SUMMARY A 27-year-old male,who was exposed to cranial irradiation at the age of 4 years as part of the treatment for acute lymphoblastic leukaemia,presented with symptoms of raised intracranial pressure for one week.Brain magnetic resonance imaging revealed a heterogeneously enhancing lesion at the hypothalamus.Stereotactic biopsy was performed.Histopathological examination of the lesion showed malignant rhabdoid tumour.The disease progressed rapidly,with manifestation of leptomeningeal spread.He was started on craniospinal irradiation but treatment was suspended after 5.4 Gy,as he developed myelosuppression.His clinical condition deteriorated rapidly,and he succumbed to his illness within 2 mo.CONCLUSION This fifth case of radiation-induced central nervous system rhabdoid tumour reenforces the aggressive nature of this disease with poor prognosis.
文摘BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.
文摘Introduction Rhabdoid meningioma （RM） is a special type of meningioma, The pathologic features of RM include sheets of rhabdoid tumor cells with or without the findings typical of conventional meningiomas. Since the disease is rare, and the histologic structure similar to that of other tumors, misdiagnosis and failure to include the entity in the differentiation can occur from time to time. In this article, the pathologic features and immunophenotype of RM are analyzed, in combination with analysis of a case treated at our institution and a review of the literature.
文摘Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">rhabdoid tumors are highly malignant, rare </span><span style="font-family:Verdana;">and</span><span style="font-family:Verdana;"> aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show </span><span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> and therapeutic approach through the report of four observations of </span><span style="font-family:Verdana;">rhabdoid</span><span style="font-family:Verdana;"> tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected </span><span style="font-family:Verdana;">over a period of</span><span style="font-family:Verdana;"> 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All </span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">children</span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">have </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">abdominal distention with the discovery of a mass on clinical examination. </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">patients were treated </span><span style="font-family:Verdana;">as</span><span style="font-family:Verdana;"> nephroblastoma by neoadjuvant chemotherapy followed by enlarged total nephrectomy. The pathological study confirmed the diagnosis of a teratoid</span></span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">rhabdoid tumor. Adjuvant chemotherapy was given in all four children combined with radiotherapy in three cases. The evolution was fatal in three children. Malignant rhabdoid tumors are a particular pathological entity requiring a well codified therapeutic protocol to improve survival which does not exceed 15% to 20%.
文摘Meningiomas occur in 1%-4% of primary intracranial tumors in the pediatric group, and is increasing in incidence with age. Some authors have reported that meningioma is more prevalent among adult males, but there is no gender prevalence. The accepted origin of meningiomas is from the arachnoid ceils lining the meninges, or the choroid plexuses. Since Beckwith and Palmer introduced the term ＇rhabdoid tumor＇ in 1978 in reference to a subgroup of childhood malignant renal tumors, many tumors with a rhabdoid morphology have been reported in various sites, including the central nervous system. In 1998 Kepes et al.
文摘Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.
文摘Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with AT/RT. Treatment comprised total tumor resection, 6 MV X 3D conformal radiotherapy (DT: 36Gy/18FX) and six courses of chemotherapy, including teniposide 25 mg (qd × 5d), ACNU 25 mg (qd × 1d), vincristine 1 mg (qd × 1d). There was no tumor recurrence after 5 years of follow-up. We adjusted the previous AT/RT regimen to make it more suitable for the individual treatment of this patient, and now the patient has achieved a cure. So we think this regimen is effective and it is worthy of recommendation.
基金supported by the National Science Foundation(CBET-1652992 and CBET-1917618 to Y.L.).
文摘Natural killer(NK)cells are cytotoxic immune cells that can eliminate target cells without prior stimulation.Human induced pluripotent stem cells(iPSCs)provide a robust source of NK cells for safe and effective cell-based immunotherapy against aggressive cancers.In this in vitro study,a feeder-free iPSC differentiation was performed to obtain iPSC-NK cells,and distinct maturational stages of iPSC-NK were characterized.Mature cells of CD56^(bright)CD16^(bright)phenotype showed upregulation of CD56,CD16,and NK cell activation markers NKG2D and NKp46 upon IL-15 exposure,while exposure to aggressive atypical teratoid/rhabdoid tumor(ATRT)cell lines enhanced NKG2D and NKp46 expression.Malignant cell exposure also increased CD107a degranulation markers and stimulated IFN-γsecretion in activated NK cells.CD56^(bright)CD16^(bright)iPSC-NK cells showed a ratio-dependent killing of ATRT cells,and the percentage lysis of CHLA-05-ATRT was higher than that of CHLA-02-ATRT.The iPSC-NK cells were also cytotoxic against other brain,kidney,and lung cancer cell lines.Further NK maturation yielded CD56^(-ve) CD16^(bright)cells,which lacked activation markers even after exposure to interleukins or ATRT cells-indicating diminished cytotoxicity.Generation and characterization of different NK phenotypes from iPSCs,coupled with their promising anti-tumor activity against ATRT in vitro,offer valuable insights into potential immunotherapeutic strategies for brain tumors.
文摘Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatments have poor prognoses and challenging side effects. The pivotal genetic event in AT/RT pathogenesis comprises the inactivation ofSMARCB1 orSMARCA4. Recent epigenetic studies have demonstrated mutual and subtype-specific epigenetic derangements that drive tumorigenesis;the exploitation of these potential targets might improve the dismal treatment outcomes of AT/RTs. This review aims to summarize the literature concerning targeted molecular therapies for pediatric AT/RTs.
文摘Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.
文摘Atypical teratoid/rhabdoid tumor(ATRT)is a rare childhood malignancy that originates in the central nervous system.Over ninety-five percent of ATRT patients have biallelic inactivation of the tumor suppressor gene SMARCB1.ATRT has no standard treatment,and a major limiting factor in therapeutic development is the lack of reliable ATRT models.We employed CRISPR/Cas9 gene-editing technology to knock out SMARCB1 and TP53 genes in human episomal induced pluripotent stem cells(Epi-iPSCs),followed by brief neural induction,to generate an ATRT-like model.The dual knockout Epi-iPSCs retained their stemness with the capacity to differentiate into three germ layers.High expression of OCT4 and NANOG in neurally induced knockout spheroids was comparable to that in two ATRT cell lines.Beta-catenin protein expression was higher in SMARCB1-deficient cells and spheroids than in normal Epi-iPSC-derived spheroids.Nucleophosmin,Osteopontin,and Ki-67 proteins were also expressed by the SMARCB1-deficient spheroids.In summary,the tumor model resembled embryonal features of ATRT and expressed ATRT biomarkers at mRNA and protein levels.Ribociclib,PTC-209,and the combination of clofilium tosylate and pazopanib decreased the viability of the ATRT-like cells.This disease modeling scheme may enable the establishment of individualized tumor models with patient-specific mutations and facilitate high-throughput drug testing.
