A case report of SMARCA4-deficient gastric cancer and review of the literature

Lin Chen; Zhengyi Cheng; Yuqiao Xu; Guodong Fang; Hangrong Fang

doi:10.1177/2050313X241290971

A case report of SMARCA4-deficient gastric cancer and review of the literature

SAGE Open Med Case Rep. 2024 Nov 8:12:2050313X241290971. doi: 10.1177/2050313X241290971. eCollection 2024.

Authors

Lin Chen¹, Zhengyi Cheng², Yuqiao Xu³, Guodong Fang¹, Hangrong Fang²

Affiliations

¹ Department of Pathology, Shaanxi Provincial People's Hospital, The Third Affiliated Hospital of the School of Medicine, Xi'an Jiaotong University, Xi'an, China.
² Department of Pathology, Xi'an No.3 Hospital, The Affiliated Hospital of Northwest University, Xi'an, China.
³ Department of Pathology, The First Affiliated Hospital, Air Force Medical University, Xi'an, China.

Abstract

We report the case of a 50-year-old female with gastric carcinoma. The tumor was positive for epithelial and other immunological markers; however, SMARCA4 was completely inactivated. The histological and immunophenotypic findings were consistent with a diagnosis of SMARCA4-DTS. Next-generation sequencing identified a frameshift mutation in SMARCA4. The pathological diagnosis was SMARCA4-deficient gastric carcinoma. The tumor exhibits a poor response to conventional chemotherapy and has a poor prognosis; therefore, correct diagnosis is necessary. Moreover, new therapies such as EZH2 inhibitors and etoposide should be considered in cases where conventional chemotherapy is ineffective.

Keywords: Gastric carcinoma; Immunohistochemistry; SMARCA4-deficiency.

Publication types

Case Reports