目的 探讨胃肠道SWI/SNF复合体缺失表达相关性肿瘤的临床病理学特征并进行预后分析。 方法 收集复旦大学附属中山医院病理科2021年8月至2023年5月确诊的具有SWI/SNF复合体缺失表达的胃肠道肿瘤病例，复习HE切片，分析免疫组织化学结果，记录临床病理学信息，并复习相关文献。 结果 共计检索出胃肠道肿瘤SWI/SNF复合体缺失表达的病例36例，其中男性28例（77.8%），女性8例（22.2%），患者平均发病年龄70岁（范围48~85岁）。临床分期Ⅰ期3例（8.3%），Ⅱ期12例（33.3%），Ⅲ期19例（52.8%），Ⅳ期2例（5.6%）。ARID1A完全或部分缺失表达20例（55.6%）；SMARCA2完全或部分缺失表达24例（66.7%）；SMARCA4完全或部分缺失表达4例（11.1%）；同时具有ARID1A与SMARCA2完全或部分缺失表达11例（30.6%）。伴有错配修复蛋白缺失表达12例（33.3%），均为MLH1/PMS2缺失表达，错配修复蛋白的缺失表达与ARID1A的缺失表达显著相关（P<0.01），伴有错配修复缺陷的患者与临床分期早、较少出现淋巴结转移显著相关（P<0.05）。 结论 胃肠道SWI/SNF复合物缺失与肿瘤发生去分化相关，并且常伴有错配修复蛋白缺陷，相比于错配修复蛋白完整的病例，伴有错配修复蛋白缺陷的病例临床分期较早、淋巴结转移风险低。 Objective To investigate the clinicopathological characteristics of gastrointestinal tumors with SWI/SNF complex deficiency and to perform a prognostic analysis of the patients. Methods Gastrointestinal tumor cases with SWI/SNF complex deficiency expression diagnosed at the Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China from August 2021 to May 2023 were collected. Hematoxylin and eosin (HE) stained slides were reviewed, and immunohistochemical results were analyzed. Clinical and pathological information was recorded, and relevant literature was reviewed. Results A total of 36 cases of gastrointestinal tumor with loss of SWI/SNF complex expression were identified, including 28 males (77.8%) and 8 females (22.2%). The average age at diagnosis was 70 years (range 48-85 years). Clinical staging showed 3 cases in stage Ⅰ (8.3%), 12 cases in stage Ⅱ (33.3%), 19 cases in stage Ⅲ (52.8%), and 2 cases in stage Ⅳ (5.6%). Complete or partial loss of ARID1A expression was observed in 20 cases (55.6%) complete or partial loss of SMARCA2 expression was observed in 24 cases (66.7%). SMARCA4 exhibited complete loss of expression in 4 cases (11.1%). Eleven cases (30.6%) showed concurrent complete or partial losses of both ARID1A and SMARCA2 expression. Twelve cases (33.3%) had mismatch repair protein deficiency, all of which were characterized by MLH1/PMS2 absence. Mismatch repair protein deficiency was associated with loss of ARID1A expression (P<0.01). Patients with mismatch repair protein deficiency were also associated with earlier clinical stage and a lower risk of lymph node metastasis compared to the ones with intact mismatch repair proteins (P<0.05). Conclusions SWI/SNF complex deficiency in gastrointestinal tumors is associated with dedifferentiation and often accompanied by mismatch repair protein deficiency. Compared to the cases with intact mismatch repair proteins, the cases with defective mismatch repair protein have an earlier clinical stage and a lower risk of lymph node metastasis.
Gastrointestinal tumors with SWI/SNF complex deficiency: a clinicopathological analysis of 36 cases
Objective To investigate the clinicopathological characteristics of gastrointestinal tumors with SWI/SNF complex deficiency and to perform a prognostic analysis of the patients. Methods Gastrointestinal tumor cases with SWI/SNF complex deficiency expression diagnosed at the Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China from August 2021 to May 2023 were collected. Hematoxylin and eosin (HE) stained slides were reviewed, and immunohistochemical results were analyzed. Clinical and pathological information was recorded, and relevant literature was reviewed. Results A total of 36 cases of gastrointestinal tumor with loss of SWI/SNF complex expression were identified, including 28 males (77.8%) and 8 females (22.2%). The average age at diagnosis was 70 years (range 48-85 years). Clinical staging showed 3 cases in stage Ⅰ (8.3%), 12 cases in stage Ⅱ (33.3%), 19 cases in stage Ⅲ (52.8%), and 2 cases in stage Ⅳ (5.6%). Complete or partial loss of ARID1A expression was observed in 20 cases (55.6%) complete or partial loss of SMARCA2 expression was observed in 24 cases (66.7%). SMARCA4 exhibited complete loss of expression in 4 cases (11.1%). Eleven cases (30.6%) showed concurrent complete or partial losses of both ARID1A and SMARCA2 expression. Twelve cases (33.3%) had mismatch repair protein deficiency, all of which were characterized by MLH1/PMS2 absence. Mismatch repair protein deficiency was associated with loss of ARID1A expression (P<0.01). Patients with mismatch repair protein deficiency were also associated with earlier clinical stage and a lower risk of lymph node metastasis compared to the ones with intact mismatch repair proteins (P<0.05). Conclusions SWI/SNF complex deficiency in gastrointestinal tumors is associated with dedifferentiation and often accompanied by mismatch repair protein deficiency. Compared to the cases with intact mismatch repair proteins, the cases with defective mismatch repair protein have an earlier clinical stage and a lower risk of lymph node metastasis.
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