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 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.
文摘目的胸部SMARCA4缺失的未分化肿瘤(SMARCA4-deficient undifferentiated tumors,SMARCA4-UT)是一类高侵袭性预后差的少见恶性肿瘤,对传统化疗反应较差,目前尚无确切针对SMARCA4-UT的治疗指南。回顾性分析SMARCA4-UT的临床特点及预后影响因素。方法48例SMARCA4-UT患者,根据治疗方式分为手术治疗组5例,单纯化疗组22例,化疗联合免疫组5例,化疗联合抗肿瘤血管生成组7例,化疗联合抗肿瘤血管生成及免疫治疗组2例,未治疗组7例。通过免疫组化、二代测序分析患者临床病理学及基因特征,观察不同治疗方式疗效,分析临床特征与预后的关系。结果化疗联合免疫治疗组的无进展生存期(progression-free survival,PFS)4.5个月及总生存期(overall survival,OS)9.1个月优于单纯化疗组3.6个月,5.2个月及化疗联合抗肿瘤血管生成治疗组4.1个月,9.1个月,其中依托泊苷联合铂类(etopoposide combined with the platinum,EP)方案化疗联合替雷利珠单抗可作为SMARCA4-UT患者治疗的优选治疗方案。肝转移及≥3个转移部位为PFS及OS的影响因素,合并STK11、KEAP1突变患者总体预后较差。截止随访日期,手术治疗组死亡3例(60.00%),单纯化疗组死亡16例(72.73%),化疗联合免疫治疗组死亡3例(60.00%),化疗联合抗肿瘤血管生成治疗组死亡5例(71.43%),化疗联合抗肿瘤血管生成治疗联合免疫治疗组全部存活(0.00%),未接受治疗组7例全部死亡(100.00%)。结论晚期SMARCA4-UT患者一线应用免疫检查点抑制剂联合化疗的疗效优于单纯化疗方案,其中EP方案可潜在更优的化疗选择。检测STK11、KEAP1基因突变对SMARCA4-UT患者具有临床意义。
