Gastric carcinoma harbouring loss‑of‑function mutations in the PIK3R1, ATRX and RBM10 genes exhibits diverse histological features associated with EBV infection and TP53 inactivation: A case report

• DOI: 10.3892/ol.2025.15002
• Publication Date: 2025-04-01T10:56:17Z
• Authors: Se Un Jeong; Euno Choi; Yongil Kim; Jaeyoung Byeon; So-Woon Kim
• Keywords: ATRX

This study presents a novel case of gastric carcinoma (GC) with diverse histological features and unique molecular alterations. A 62-year-old man hematemesis was diagnosed advanced GC hepatic metastasis. Despite palliative gastrectomy to control bleeding, the patient succumbed within 6 months. Histological examination revealed three distinct tumour components: Gastric adenosquamous (GASC), lymphoid stroma (GCLS) poorly differentiated adenocarcinoma (PDAD). Immunohistochemical staining, next-generation sequencing Epstein-Barr virus (EBV) in situ hybridisation were performed characterise tumour. The GASC component diffuse p40 p63 immunoreactivity, while GCLS PDAD components negative for both markers. All harboured missense mutation phosphoinositide-3-kinase regulatory subunit 1 gene deletions ATRX RNA binding motif protein 10 genes. Additionally, EBV positive demonstrated concurrent infection TP53 inactivation. present highlights importance thorough evaluation, as alterations heterogenous status histologically may significantly influence prognosis treatment strategies.