PDF(Pubmed)
Abstract：
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 (SMARCA4)-deficient tumors are rare and highly aggressive tumors characterized by a loss of SMARCA4 expression, and SMARCA4-deficient tumors in the adnexal area of the uterus are particularly rare. The present study describes the case of a 64-year-old woman who was admitted to Weifang People\'s Hospital (Weifang, China) with abdominal distension, and was observed to have a mass with ascites in the adnexal area of the uterus. Based on clinical, imaging and pathological findings, the patient was diagnosed with a SMARCA4-deficient adnexal tumor with ascites. Biopsy of the left and right adnexal lesions was performed, and the patient was administered chemotherapy. After one cycle of bevacizumab, sindilizumab and carboplatin, no further treatment was administered. After biopsy and chemotherapy, the abdominal distension was alleviated and the general condition of the patient was satisfactory. The patient was followed up and died 3 months after treatment. Notably, it is important to avoid misdiagnosing this tumor as other types of adnexal uterine tumors, and morphological and immunohistochemical features may be useful for diagnosing primary SMARCA4-deficient tumors in the adnexal area of the uterus.
摘要：
SWI/SNF相关的基质相关肌动蛋白依赖性染色质亚家族A成员4（SMARCA4）缺陷型肿瘤是罕见且高度侵袭性的肿瘤，其特征是SMARCA4表达丧失，子宫附件区SMARCA4缺陷型肿瘤尤为罕见.本研究描述了潍坊市人民医院收治的一名64岁女性(潍坊，中国）腹胀，并观察到子宫附件区域有腹水肿块。基于临床，影像学和病理结果，患者被诊断为SMARCA4缺陷型附件肿瘤伴腹水.对左右附件病变进行活检，患者接受化疗。贝伐单抗一个周期后，sindilizumab和卡铂，未进行进一步治疗.活检和化疗后，腹胀缓解,患者一般情况满意。患者获得随访,治疗3个月后死亡。值得注意的是,重要的是避免将这种肿瘤误诊为其他类型的附件子宫肿瘤，形态学和免疫组织化学特征可能有助于诊断子宫附件区SMARCA4缺陷型原发性肿瘤。
