胃食管交界和胃的SMARCA4(BRG1)缺失型未分化癌临床病理学分析

SMARCA4(BRG1)-deficient undifferentiated carcinoma of the gastroesophageal junction and stomach:a clinicopathological analysis

目的探讨胃食管交界和胃的SMARCA4(BRG1)缺失型未分化癌的临床病理学特征、免疫表型、诊断与鉴别诊断、治疗及预后。方法收集中国科学技术大学附属第一医院2020—2021年诊断的胃食管交界和胃的SMARCA4(BRG1)缺失型未分化癌3例,并结合相关文献进行临床病理分析。结果2例男性,1例女性,平均发病年龄62岁。组织学均见肿瘤呈片状、巢团状分布,肿瘤细胞形态较单一,均以上皮样细胞为主。瘤细胞体积较大,胞质丰富嗜酸,核质比较高,细胞核圆形或卵圆形,染色质稍粗糙,部分细胞可见小核仁。瘤细胞核分裂象易见,其中2例伴有坏死。免疫组化3例均BRG1(-)、不同程度表达上皮性标记物,其中2例表达Syn。3例患者确诊时均为晚期,2例伴有肝脏转移,1例伴有颈部及腹腔多发淋巴结肿大。其中1例确诊2个月后死亡。结论胃食管交界和胃的SMARCA4(BRG1)缺失型未分化癌是一种罕见的高度侵袭性恶性肿瘤,发现时多为晚期,易发生转移,预后差,组织学上需与多种肿瘤进行鉴别。

Objective To explore the clinicopathological features,immunophenotype,diagnosis and differential diagnosis,treatment and prognosis of SMARCA4(BRG1)-deficient undifferentiated carcinoma of the gastroesophageal junction and stomach.Methods Three cases of SMARCA4(BRG1)-deficient undifferentiated carcinoma of the gastroesophageal junction and stomach diagnosed in the First Affiliated Hospital University of Science and Technology of China from 2020 to 2021 were collected and analyzed,and related literature was reviewed.Results There were 2 males and 1 female,the median age at diagnosis was 62 years.Histologically,the tumor was distributed in the shape of sheet and nest,and the tumor cell morphology was simple,and the tumor cells were mainly epithelioid cells.The cells were large in size,with abundant eosinophilic cytoplasm,high nuclus/cytoplasm ratio,round or oval nuclei,slightly rough chromatin,and small nucleoli in some cells.Nuclear mitosis was common,and 2 cases were associated with necrosis.Immunohistochemistry showed that BRG1 was negative and epithelial markers were expressed in different degrees in all 3 cases.Syn was expressed in 2 of them.All 3 patients were diagnosed at advanced stage,2 patients were associated with liver metastasis,and 1 patient was associated with multiple lymph node enlargement in neck and abdominal cavity.One of them died 2 months after diagnosis.Conclusion SMARCA4(BRG1)-deficient undifferentiated carcinoma of the gastroesophageal junction and stomach is a rare and highly invasive malignant tumor,most of which are found in the late stage,with a metastatic tendency and poor prognosis.It is necessary to differentiate it from multiple tumors histologically.