Misra Sunayana, Szeto Wai, Centeno Lisa, Castillo Dani, Rucker Adam, Rahmanuddin Syed, Mannan Rifat
Department of Pathology, Sir Ganga Ram Hospital, New Delhi, India.
Department of Pathology, City of Hope National Medical Center, Duarte, CA, USA.
Int J Surg Pathol. 2025 Jun;33(4):1016-1021. doi: 10.1177/10668969241296128. Epub 2024 Nov 18.
Inactivation of (BRG1), a subunit of SWI/SNF complex, has been reported in malignancies from various sites, including the thorax, uterus, ovary, and gastrointestinal tract, and is usually associated with aggressive clinical course. These tumors have been reported primarily in elderly patients and on histology demonstrate high-grade morphology, often with rhabdoid differentiation. SMARCA4 loss is exceedingly rare in primary gastric cancers. Here, we present a unique example of SMARCA4 deficient gastric carcinoma in a 28-year-old male patient with molecular confirmation which showed a poorly differentiated histology and focal squamous differentiation. Despite multidisciplinary management, including FOLFOX chemotherapy, immunotherapy (nivolumab), and surgical resection, the patient succumbed to his disease within 2 years of diagnosis. This case report highlights the aggressive nature of SMARCA4-deficient carcinomas, which are often resistant to conventional chemotherapy, and underscores the importance of early diagnosis and exploring alternative therapeutic approaches for such malignancies.
SWI/SNF复合物的一个亚基(BRG1)失活已在包括胸部、子宫、卵巢和胃肠道等不同部位的恶性肿瘤中被报道,并且通常与侵袭性临床病程相关。这些肿瘤主要报道于老年患者,组织学表现为高级别形态,常伴有横纹肌样分化。SMARCA4缺失在原发性胃癌中极为罕见。在此,我们展示了一例28岁男性患者的SMARCA4缺陷型胃癌的独特病例,经分子确认,其组织学表现为低分化且有局灶性鳞状分化。尽管进行了多学科治疗,包括FOLFOX化疗、免疫治疗(纳武单抗)和手术切除,但该患者在诊断后2年内死于疾病。本病例报告突出了SMARCA4缺陷型癌的侵袭性本质,这类癌症通常对传统化疗耐药,并强调了早期诊断以及探索针对此类恶性肿瘤的替代治疗方法的重要性。