SMARCA4-deficient undifferentiated gastric carcinoma: a case series and literature review.

IF 6 1区 医学 Q1 GASTROENTEROLOGY & HEPATOLOGY Gastric Cancer Pub Date : 2024-09-01 Epub Date: 2024-05-22 DOI:10.1007/s10120-024-01510-9
Hyeong Rok An, Hyung-Don Kim, Min-Hee Ryu, Young Soo Park
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Abstract

Undifferentiated gastric carcinoma, characterized by anaplastic cells lacking distinct features of cytological or architectural differentiation, poses diagnostic and therapeutic challenges. Recent studies have suggested an association between this carcinoma and deficiencies in the SWI/SNF complex, particularly mutations in subunits such as SMARCA4. We herein report six cases of SMARCA4-deficient undifferentiated gastric carcinoma with molecular findings, highlighting the rarity and diagnostic pitfalls of this malignancy. Predominantly occurring in males over 50 years, these cases presented with nonspecific symptoms and were often diagnosed at an advanced stage. Histologically, the tumors exhibited a sheet-like growth pattern, reduced or absent epithelial markers, and loss of BRG-1 expression, with molecular analysis confirming SMARCA4 gene mutations. The response to conventional chemotherapy was poor, underscoring the importance of complete surgical resection and the development of alternative treatment modalities.

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SMARCA4缺陷性未分化胃癌:一个病例系列和文献综述。
未分化型胃癌的特点是无性细胞缺乏细胞学或结构分化的明显特征,这给诊断和治疗带来了挑战。最近的研究表明,这种癌症与 SWI/SNF 复合物的缺陷有关,尤其是 SMARCA4 等亚基的突变。我们在此报告了六例SMARCA4缺陷性未分化胃癌的分子研究结果,强调了这种恶性肿瘤的罕见性和诊断陷阱。这些病例主要发生在50岁以上的男性,表现为非特异性症状,通常在晚期才被确诊。组织学上,肿瘤呈片状生长,上皮标志物减少或消失,BRG-1表达缺失,分子分析证实SMARCA4基因突变。患者对常规化疗的反应不佳,这凸显了完全手术切除和开发替代治疗方法的重要性。
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来源期刊
Gastric Cancer
Gastric Cancer 医学-胃肠肝病学
CiteScore
14.70
自引率
2.70%
发文量
80
审稿时长
6-12 weeks
期刊介绍: Gastric Cancer is an esteemed global forum that focuses on various aspects of gastric cancer research, treatment, and biology worldwide. The journal promotes a diverse range of content, including original articles, case reports, short communications, and technical notes. It also welcomes Letters to the Editor discussing published articles or sharing viewpoints on gastric cancer topics. Review articles are predominantly sought after by the Editor, ensuring comprehensive coverage of the field. With a dedicated and knowledgeable editorial team, the journal is committed to providing exceptional support and ensuring high levels of author satisfaction. In fact, over 90% of published authors have expressed their intent to publish again in our esteemed journal.
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