BACKGROUND Bile duct cancer constitutes gallbladder cancer(GBC),intrahepatic cholangiocarcinoma(ICA),and extrahepatic cholangiocarcinoma(ECA).These three entities show morphological and immunohistochemical resemblance...BACKGROUND Bile duct cancer constitutes gallbladder cancer(GBC),intrahepatic cholangiocarcinoma(ICA),and extrahepatic cholangiocarcinoma(ECA).These three entities show morphological and immunohistochemical resemblance so that it is difficult to differentiate between primary ICA and liver metastasis of GBC,which sometimes becomes a point of discussion in clinical practice.Although these cancers demonstrate significant differences in their mutational landscape,several reports demonstrated shared genomic alteration in paired primary and metastatic site aids in distinguishing metastatic recurrence from second primary cancers.CASE SUMMARY We present a 73-year-old female patient who underwent curative resection for GBC harboring epidermal growth factor receptor 2(ERBB2)activating mutation on next-generation sequencing(NGS)-based genomic testing.One year later,a hepatic lesion was observed on follow-up imaging and she underwent surgical resection for a pathological diagnosis.The histological findings of the hepatic lesion were similar to those of the primary lesion.Additionally,using NGS panel testing,the hepatic lesion was found to have ERBB2 activating mutation,which is the identical mutation detected in the sequencing result of the primary site.ERBB2 activating mutation occurs more frequently in GBC than ICA and ECA.Therefore,in the present case,we think this molecular finding potentiated the diagnosis of the liver mass toward a metastatic recurrence.Additionally,this patient underwent HER2-targeted treatment with lapatinib in combination with capecitabin and obtained clinical benefit.CONCLUSION This case illustrated NGS panel usefulness in distinguishing GBC recurrence from second primary cancer and HER2-targeted agent efficacy on ERBB2 mutated GBC.展开更多
BACKGROUND Lung squamous cell cancer(LSCC)rarely harbors epidermal growth factor receptor(EGFR)mutations,even much rarer for acquired T790M mutation.Although clinical trials of AURA series illustrated that non-small c...BACKGROUND Lung squamous cell cancer(LSCC)rarely harbors epidermal growth factor receptor(EGFR)mutations,even much rarer for acquired T790M mutation.Although clinical trials of AURA series illustrated that non-small cell lung cancer(NSCLC)with EGFR T790M mutation can benefit from osimertinib,only five LSCC patients were enrolled in total;moreover,the efficacy for LSCC was not shown in the results.Therefore,the response of LSCC to osimertinib is still unclear to date.CASE SUMMARY We report an LSCC case with T790M-related acquired resistance after treatments with first-generation EGFR-tyrosine kinase inhibitors(EGFR-TKIs)and benefited from osimertinib significantly.A 63-year-old Chinese man was diagnosed with stage IV(cT2N2M1b)LSCC harboring an EGFR exon 19-deletion mutation.Following disease progression after gefitinib and multi-line chemotherapy,rebiopsy was conducted.Molecular testing of EGFR by amplification refractory mutation system-polymerase chain reaction detected the exon 19-deletion without T790M mutation.Therefore,the patient was given erlotinib,but progression developed only 3 mo later.Then the frozen re-biopsy tissue was tested by next-generation sequencing(NGS),which detected an EGFR T790M mutation.However,he was very weak with symptoms of dysphagia and cachexia.Fortunately,osimertinib was started,leading to alleviation from the symptoms.Four months later,normal deglutition was restored and partial response was achieved.Finally,the patient achieved an overall survival time period of 29 mo.CONCLUSION Our findings highlight that EGFR T790M mutation may also be an important acquired drug resistance mechanism for LSCC and offer direct evidence of the efficacy of osimertinib in LSCC with T790M mutation.NGS and better preservation conditions may contribute to higher sensitivity of EGFR T790M detection.展开更多
This paper presents the derivation of Gauss-Newton filter in linear cases and an analysis of its properties. Based on the minimum variance theorem, the Gauss-Newton filter is constructed and derived, including its sta...This paper presents the derivation of Gauss-Newton filter in linear cases and an analysis of its properties. Based on the minimum variance theorem, the Gauss-Newton filter is constructed and derived, including its state transition equation, observation equation and filtering process. Then, the delicate relationship between the Gauss-Aitken filter and the Kalman filter is discussed and it is verified that without process noise the two filters are equivalent. Finally, some simulations are conducted. The result shows that the Gauss-Aitken filter is superior to the Kalman filter in some aspects.展开更多
BACKGROUND Neurofibromatosis type Ⅰ(NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder pres...BACKGROUND Neurofibromatosis type Ⅰ(NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder presentations. In addition, the incidence of tumors is much higher in patients with neurofibromatosis type Ⅰ. However, there are very few reports at home and abroad on this topic. Here, we present a case of NF1 with spindle cell sarcoma.CASE SUMMARY A 50-year-old male was found to have a right axillary mass for 20 years.Specialist examination found cafe-au-lait spots on many parts of the skin,rounded nodules in the skin, a bulge in the right armpit, touching a lump(10 cm× 6 cm, hard, unclear boundary, poor mobility, local tenderness). The anterior side of the thigh felt weakened on the opposite side;in the right groin a swollen lymph node(hard, clear border, good mobility, local tenderness). According to the results of positron emission tomography/computed tomography, puncture pathology and immunohistochemistry, genetic testing, a diagnosis of NF1 with spindle cell sarcoma was confirmed. According to the genetic testing result, the patient was given a targeted treatment with crizotinib.CONCLUSION Surgery, chemotherapy and radiotherapy are the main treatment methods of NF1. However, with the continuous progress of molecular biology research,molecular targeted therapy may bring benefits for patients.展开更多
BACKGROUND Leiomyosarcoma of the stomach is extremely rare,and only 13 cases have been reported in the literature.Before the advent of KIT immunohistochemistry,gastrointestinal stromal tumors(GISTs)were misdiagnosed a...BACKGROUND Leiomyosarcoma of the stomach is extremely rare,and only 13 cases have been reported in the literature.Before the advent of KIT immunohistochemistry,gastrointestinal stromal tumors(GISTs)were misdiagnosed as leiomyomas and leiomyosarcomas.Leiomyosarcoma rarely occurs in organs besides the uterus and is rarely located in the stomach.CASE SUMMARY A 57-year-old woman presented with the symptom of melena over a one-month period.She had suffered weight loss,weakness,nausea and vomiting for fifteen days.At a local hospital,computed tomography showed a very large mass in the stomach,and the results of endoscopic examination and histopathological diagnosis were unclear.She received transfusion therapy and was transferred to our hospital.Upon arrival at our hospital,the patient was anemic.She denied any family history and had no specific past history.No signs of pulmonary metastasis were found on chest radiographs.Magnetic resonance imaging and computed tomography confirmed a very large tumor in the stomach,and no visible signs of metastatic disease were found.On October 30,2013,the patient underwent resection of the stomach tumor and did not undergo any adjuvant treatment.The margins were negative and she had an uneventful recovery and was discharged after 12 d.One year after surgery,the patient died at home,and the cause of death were gastrointestinal obstruction and malnutrition.During that time,she was treated with Chinese medicine but the effect was not ideal.Because of gastrointestinal obstruction,the patient did not receive any reexamination.CONCLUSION Surgical resection is the standard treatment for gastric leiomyosarcoma.The diagnosis of this tumor mainly depends on histopathological examination.This case may suggest the aggressive behavior and poor prognosis of this tumor.展开更多
BACKGROUND The perivascular epithelioid cell tumour(PEComa)family of tumours mainly includes renal and hepatic angiomyolipomas,pulmonary lymphangioleiomyomatosis and clear cell“sugar”tumour of the lung.Several uncom...BACKGROUND The perivascular epithelioid cell tumour(PEComa)family of tumours mainly includes renal and hepatic angiomyolipomas,pulmonary lymphangioleiomyomatosis and clear cell“sugar”tumour of the lung.Several uncommon tumours with similar morphological and immunophenotypical characteristics arising at a variety of sites(abdominal cavity,digestive tract,retroperitoneum,skin,soft tissue and bones)are also included in the PEComa family and are referred to as PEComas not otherwise specified.CASE SUMMARY We present a 37-year-old female patient who underwent resection of an 8.5 cm×8 cm×4 cm retroperitoneal tumour,which eventually was diagnosed as PEComa of uncertain biological behaviour.Three years after the operation,the patient remains without any evidence of recurrence.A search was performed in the Medline and EMBASE databases for articles published between 1996 and 2018,and we identified 31 articles related to retroperitoneal and perinephric PEComas.We focused on sex,age,maximum dimension,histological and immunohistochemical characteristics of the tumour,follow-up and long-term outcome.Thirty-four retroperitoneal(including the present one)and ten perinephric PEComas were identified,carrying a malignant potential rate of 44%and 60%,respectively.Nearly half of the potentially malignant PEComas presented with or developed metastases during the course of the disease.CONCLUSION Retroperitoneal PEComas are not as indolent as they are supposed to be.Radical surgical resection constitutes the treatment of choice for localized disease,while mammalian target of the rapamycin(mTOR)inhibitors constitute the most promising therapy for disseminated disease.The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.展开更多
文摘BACKGROUND Bile duct cancer constitutes gallbladder cancer(GBC),intrahepatic cholangiocarcinoma(ICA),and extrahepatic cholangiocarcinoma(ECA).These three entities show morphological and immunohistochemical resemblance so that it is difficult to differentiate between primary ICA and liver metastasis of GBC,which sometimes becomes a point of discussion in clinical practice.Although these cancers demonstrate significant differences in their mutational landscape,several reports demonstrated shared genomic alteration in paired primary and metastatic site aids in distinguishing metastatic recurrence from second primary cancers.CASE SUMMARY We present a 73-year-old female patient who underwent curative resection for GBC harboring epidermal growth factor receptor 2(ERBB2)activating mutation on next-generation sequencing(NGS)-based genomic testing.One year later,a hepatic lesion was observed on follow-up imaging and she underwent surgical resection for a pathological diagnosis.The histological findings of the hepatic lesion were similar to those of the primary lesion.Additionally,using NGS panel testing,the hepatic lesion was found to have ERBB2 activating mutation,which is the identical mutation detected in the sequencing result of the primary site.ERBB2 activating mutation occurs more frequently in GBC than ICA and ECA.Therefore,in the present case,we think this molecular finding potentiated the diagnosis of the liver mass toward a metastatic recurrence.Additionally,this patient underwent HER2-targeted treatment with lapatinib in combination with capecitabin and obtained clinical benefit.CONCLUSION This case illustrated NGS panel usefulness in distinguishing GBC recurrence from second primary cancer and HER2-targeted agent efficacy on ERBB2 mutated GBC.
基金Supported by the National Natural Science Foundation of China,No.81402561
文摘BACKGROUND Lung squamous cell cancer(LSCC)rarely harbors epidermal growth factor receptor(EGFR)mutations,even much rarer for acquired T790M mutation.Although clinical trials of AURA series illustrated that non-small cell lung cancer(NSCLC)with EGFR T790M mutation can benefit from osimertinib,only five LSCC patients were enrolled in total;moreover,the efficacy for LSCC was not shown in the results.Therefore,the response of LSCC to osimertinib is still unclear to date.CASE SUMMARY We report an LSCC case with T790M-related acquired resistance after treatments with first-generation EGFR-tyrosine kinase inhibitors(EGFR-TKIs)and benefited from osimertinib significantly.A 63-year-old Chinese man was diagnosed with stage IV(cT2N2M1b)LSCC harboring an EGFR exon 19-deletion mutation.Following disease progression after gefitinib and multi-line chemotherapy,rebiopsy was conducted.Molecular testing of EGFR by amplification refractory mutation system-polymerase chain reaction detected the exon 19-deletion without T790M mutation.Therefore,the patient was given erlotinib,but progression developed only 3 mo later.Then the frozen re-biopsy tissue was tested by next-generation sequencing(NGS),which detected an EGFR T790M mutation.However,he was very weak with symptoms of dysphagia and cachexia.Fortunately,osimertinib was started,leading to alleviation from the symptoms.Four months later,normal deglutition was restored and partial response was achieved.Finally,the patient achieved an overall survival time period of 29 mo.CONCLUSION Our findings highlight that EGFR T790M mutation may also be an important acquired drug resistance mechanism for LSCC and offer direct evidence of the efficacy of osimertinib in LSCC with T790M mutation.NGS and better preservation conditions may contribute to higher sensitivity of EGFR T790M detection.
文摘This paper presents the derivation of Gauss-Newton filter in linear cases and an analysis of its properties. Based on the minimum variance theorem, the Gauss-Newton filter is constructed and derived, including its state transition equation, observation equation and filtering process. Then, the delicate relationship between the Gauss-Aitken filter and the Kalman filter is discussed and it is verified that without process noise the two filters are equivalent. Finally, some simulations are conducted. The result shows that the Gauss-Aitken filter is superior to the Kalman filter in some aspects.
文摘BACKGROUND Neurofibromatosis type Ⅰ(NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder presentations. In addition, the incidence of tumors is much higher in patients with neurofibromatosis type Ⅰ. However, there are very few reports at home and abroad on this topic. Here, we present a case of NF1 with spindle cell sarcoma.CASE SUMMARY A 50-year-old male was found to have a right axillary mass for 20 years.Specialist examination found cafe-au-lait spots on many parts of the skin,rounded nodules in the skin, a bulge in the right armpit, touching a lump(10 cm× 6 cm, hard, unclear boundary, poor mobility, local tenderness). The anterior side of the thigh felt weakened on the opposite side;in the right groin a swollen lymph node(hard, clear border, good mobility, local tenderness). According to the results of positron emission tomography/computed tomography, puncture pathology and immunohistochemistry, genetic testing, a diagnosis of NF1 with spindle cell sarcoma was confirmed. According to the genetic testing result, the patient was given a targeted treatment with crizotinib.CONCLUSION Surgery, chemotherapy and radiotherapy are the main treatment methods of NF1. However, with the continuous progress of molecular biology research,molecular targeted therapy may bring benefits for patients.
基金Supported by Beijing Municipal Science and Technology Commission,No.Z161100000116045National Natural Science Foundation of China,No.81772642
文摘BACKGROUND Leiomyosarcoma of the stomach is extremely rare,and only 13 cases have been reported in the literature.Before the advent of KIT immunohistochemistry,gastrointestinal stromal tumors(GISTs)were misdiagnosed as leiomyomas and leiomyosarcomas.Leiomyosarcoma rarely occurs in organs besides the uterus and is rarely located in the stomach.CASE SUMMARY A 57-year-old woman presented with the symptom of melena over a one-month period.She had suffered weight loss,weakness,nausea and vomiting for fifteen days.At a local hospital,computed tomography showed a very large mass in the stomach,and the results of endoscopic examination and histopathological diagnosis were unclear.She received transfusion therapy and was transferred to our hospital.Upon arrival at our hospital,the patient was anemic.She denied any family history and had no specific past history.No signs of pulmonary metastasis were found on chest radiographs.Magnetic resonance imaging and computed tomography confirmed a very large tumor in the stomach,and no visible signs of metastatic disease were found.On October 30,2013,the patient underwent resection of the stomach tumor and did not undergo any adjuvant treatment.The margins were negative and she had an uneventful recovery and was discharged after 12 d.One year after surgery,the patient died at home,and the cause of death were gastrointestinal obstruction and malnutrition.During that time,she was treated with Chinese medicine but the effect was not ideal.Because of gastrointestinal obstruction,the patient did not receive any reexamination.CONCLUSION Surgical resection is the standard treatment for gastric leiomyosarcoma.The diagnosis of this tumor mainly depends on histopathological examination.This case may suggest the aggressive behavior and poor prognosis of this tumor.
文摘BACKGROUND The perivascular epithelioid cell tumour(PEComa)family of tumours mainly includes renal and hepatic angiomyolipomas,pulmonary lymphangioleiomyomatosis and clear cell“sugar”tumour of the lung.Several uncommon tumours with similar morphological and immunophenotypical characteristics arising at a variety of sites(abdominal cavity,digestive tract,retroperitoneum,skin,soft tissue and bones)are also included in the PEComa family and are referred to as PEComas not otherwise specified.CASE SUMMARY We present a 37-year-old female patient who underwent resection of an 8.5 cm×8 cm×4 cm retroperitoneal tumour,which eventually was diagnosed as PEComa of uncertain biological behaviour.Three years after the operation,the patient remains without any evidence of recurrence.A search was performed in the Medline and EMBASE databases for articles published between 1996 and 2018,and we identified 31 articles related to retroperitoneal and perinephric PEComas.We focused on sex,age,maximum dimension,histological and immunohistochemical characteristics of the tumour,follow-up and long-term outcome.Thirty-four retroperitoneal(including the present one)and ten perinephric PEComas were identified,carrying a malignant potential rate of 44%and 60%,respectively.Nearly half of the potentially malignant PEComas presented with or developed metastases during the course of the disease.CONCLUSION Retroperitoneal PEComas are not as indolent as they are supposed to be.Radical surgical resection constitutes the treatment of choice for localized disease,while mammalian target of the rapamycin(mTOR)inhibitors constitute the most promising therapy for disseminated disease.The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.
