SMARCA4缺陷型胃癌病例报告及文献综述。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

SAGE Open Medical Case Reports Pub Date : 2024-11-08 eCollection Date: 2024-01-01 DOI:10.1177/2050313X241290971

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

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引用次数: 0

摘要

我们报告了一例 50 岁女性胃癌患者的病例。肿瘤的上皮和其他免疫标记物呈阳性，但 SMARCA4 完全失活。组织学和免疫分型结果与 SMARCA4-DTS 的诊断一致。下一代测序确定了SMARCA4的一个移帧突变。病理诊断为 SMARCA4 缺失型胃癌。该肿瘤对常规化疗反应不佳，预后较差，因此必须进行正确诊断。此外，在常规化疗无效的情况下，应考虑使用 EZH2 抑制剂和依托泊苷等新疗法。

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

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.

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来源期刊

SAGE Open Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.60

自引率

0.00%

发文量

320

审稿时长

8 weeks

期刊介绍： SAGE Open Medical Case Reports (indexed in PubMed Central) is a peer reviewed, open access journal. It aims to provide a publication home for short case reports and case series, which often do not find a place in traditional primary research journals, but provide key insights into real medical cases that are essential for physicians, and may ultimately help to improve patient outcomes. SAGE Open Medical Case Reports does not limit content due to page budgets or thematic significance. Papers are subject to rigorous peer review and are selected on the basis of whether the research is sound and deserves publication. By virtue of not restricting papers to a narrow discipline, SAGE Open Medical Case Reports facilitates the discovery of the connections between papers, whether within or between disciplines. Case reports can span the full spectrum of medicine across the health sciences in the broadest sense, including: Allergy/Immunology Anaesthesia/Pain Cardiovascular Critical Care/ Emergency Medicine Dentistry Dermatology Diabetes/Endocrinology Epidemiology/Public Health Gastroenterology/Hepatology Geriatrics/Gerontology Haematology Infectious Diseases Mental Health/Psychiatry Nephrology Neurology Nursing Obstetrics/Gynaecology Oncology Ophthalmology Orthopaedics/Rehabilitation/Occupational Therapy Otolaryngology Palliative Medicine Pathology Pharmacoeconomics/health economics Pharmacoepidemiology/Drug safety Psychopharmacology Radiology Respiratory Medicine Rheumatology/ Clinical Immunology Sports Medicine Surgery Toxicology Urology Women''s Health.