BACKGROUND SMARCA4-deficient undifferentiated tumors(SMARCA4-DUTs)present with diverse clinical manifestations and progress to metastasis and even cause death within a few months.This novel subset of undifferentiated ...BACKGROUND SMARCA4-deficient undifferentiated tumors(SMARCA4-DUTs)present with diverse clinical manifestations and progress to metastasis and even cause death within a few months.This novel subset of undifferentiated tumors occurs in the middle-aged population and is strongly associated with a smoking history.Distin-guishing it from other malignancies is challenging.CASE SUMMARY A 62-year-old man presented with chest pain for 7 d.The patient had no respiratory symptoms and normal pulmonary function test results.The patient had been a smoker for 8 years and quit smoking 2 years ago.Chest computed tomography revealed a huge mass involving the left upper and lower lung lobes with pericardial invasion and multiple metastases.Tumor samples were obtained using open frozen biopsy,after several unsuccessful attempts.The tumor was composed of sheets of undifferentiated disclosive cells with vesicular nuclei and prominent nucleoli.The differential diagnosis included high-grade lymphoma,germ cell tumor,NUT carcinoma,undifferentiated carcinoma,and sarcoma.The tumor cells were large,arranged in sheets,and did not exhibit glandular or squamous differentiation.Frequent foci of necrosis were noted.There was no evidence of epithelial differentiation on immunohistochemical staining.The SMARCA4 stain showed complete loss of expression of SMARCA4,which is diagnostic.CONCLUSION In the present case,thoracic SMARCA4-DUT was diagnosed based on clinical features,absence of epithelial differentiation,and negative SMARCA4 expression.展开更多
SMARCA4-deficient tumors are gaining attention,and this type of tumor is highly malignant with a poor prognosis.The frequency of SMARCA4 deletion varies in different tumors.However,it has never been identified in the ...SMARCA4-deficient tumors are gaining attention,and this type of tumor is highly malignant with a poor prognosis.The frequency of SMARCA4 deletion varies in different tumors.However,it has never been identified in the pancreas.A 67-year-old woman pre-sented with upper abdominal pain lasting for half a month.Computed tomography indicated a space-occupying lesion in the head of the pancreas,considered a malignant tumor.Further Endoscopic ultrasound fine-needle aspiration was performed and report-ed as SMARCA4-deficient undifferentiated pancreatic tumor.The patient received no treatment and survived only two and a half months from diagnosis to death.We are the first to report SMARCA4-deficient pancreatic undifferentiated tumor in which this new tumor entity presents with poorer overall survival.We also summarized the advances of SMARCA4 in oncology and treatment.展开更多
基金Supported by a grant from Yeungnam University,No.222A580017.
文摘BACKGROUND SMARCA4-deficient undifferentiated tumors(SMARCA4-DUTs)present with diverse clinical manifestations and progress to metastasis and even cause death within a few months.This novel subset of undifferentiated tumors occurs in the middle-aged population and is strongly associated with a smoking history.Distin-guishing it from other malignancies is challenging.CASE SUMMARY A 62-year-old man presented with chest pain for 7 d.The patient had no respiratory symptoms and normal pulmonary function test results.The patient had been a smoker for 8 years and quit smoking 2 years ago.Chest computed tomography revealed a huge mass involving the left upper and lower lung lobes with pericardial invasion and multiple metastases.Tumor samples were obtained using open frozen biopsy,after several unsuccessful attempts.The tumor was composed of sheets of undifferentiated disclosive cells with vesicular nuclei and prominent nucleoli.The differential diagnosis included high-grade lymphoma,germ cell tumor,NUT carcinoma,undifferentiated carcinoma,and sarcoma.The tumor cells were large,arranged in sheets,and did not exhibit glandular or squamous differentiation.Frequent foci of necrosis were noted.There was no evidence of epithelial differentiation on immunohistochemical staining.The SMARCA4 stain showed complete loss of expression of SMARCA4,which is diagnostic.CONCLUSION In the present case,thoracic SMARCA4-DUT was diagnosed based on clinical features,absence of epithelial differentiation,and negative SMARCA4 expression.
基金supported by the National Natural Science Foundation of China(81972274,81702365)Taishan Scholars Program for Young Expert of Shandong Province(tsqn202103172)+1 种基金Shandong Provincial Natural Science Foundation(ZR2021LSW004,ZR2017MH090)Clinical Research Foundation of Shandong University(2020SDUCRCC016).
文摘SMARCA4-deficient tumors are gaining attention,and this type of tumor is highly malignant with a poor prognosis.The frequency of SMARCA4 deletion varies in different tumors.However,it has never been identified in the pancreas.A 67-year-old woman pre-sented with upper abdominal pain lasting for half a month.Computed tomography indicated a space-occupying lesion in the head of the pancreas,considered a malignant tumor.Further Endoscopic ultrasound fine-needle aspiration was performed and report-ed as SMARCA4-deficient undifferentiated pancreatic tumor.The patient received no treatment and survived only two and a half months from diagnosis to death.We are the first to report SMARCA4-deficient pancreatic undifferentiated tumor in which this new tumor entity presents with poorer overall survival.We also summarized the advances of SMARCA4 in oncology and treatment.
