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Updated: Jun 25, 2025
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
SMARCA4-deficient undifferentiated gastric carcinoma: a case series and literature review
Hyeong Rok An1, Hyung-Don Kim2, Min-Hee Ryu2
1Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43-Gil, Songpa-Gu, Seoul, 05505, Republic of Korea.
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.
Insights
SMARCA4-deficient undifferentiated gastric carcinoma is a rare malignancy. This study details six cases, emphasizing diagnostic challenges and poor response to chemotherapy, highlighting the need for surgical resection and novel treatments.
Area of Science:
- Oncology
- Molecular Pathology
- Gastroenterology
Background:
- Undifferentiated gastric carcinoma presents diagnostic and therapeutic difficulties.
- Emerging research links this cancer to SWI/SNF complex deficiencies, including SMARCA4 mutations.
Purpose of the Study:
- To report six cases of SMARCA4-deficient undifferentiated gastric carcinoma.
- To highlight the molecular findings, diagnostic pitfalls, and clinical characteristics of this rare tumor.
Main Methods:
- Case series analysis of six patients with SMARCA4-deficient undifferentiated gastric carcinoma.
- Histopathological examination including immunohistochemistry for epithelial markers and BRG-1 expression.
- Molecular analysis to confirm SMARCA4 gene mutations.
Main Results:
- The tumors predominantly affected males over 50 years old, presenting with nonspecific symptoms at advanced stages.
- Histology showed sheet-like growth, reduced epithelial markers, and loss of BRG-1 expression, confirmed by SMARCA4 mutations.
- Patients exhibited a poor response to conventional chemotherapy.
Conclusions:
- SMARCA4-deficient undifferentiated gastric carcinoma is a rare entity with significant diagnostic challenges.
- Complete surgical resection is crucial, and novel therapeutic strategies are needed due to poor chemotherapy response.
