肾上腺和小肠中SMARCA4缺陷型肿瘤：一例罕见病例报告。

SMARCA4-deficient tumors in the adrenal gland and small intestines: A rare case report.

作者信息

Kambe Akira, Yamamoto Yayoi, Hasegawa Chie, Kakiuchi Akira, Kojima Daichi, Hino Ayako, Horikawa Ayumi, Doiuchi Tsunehiro, Kurihara Hiroaki

机构信息

Department of Diagnostic and Interventional Radiology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan.

出版信息

Radiol Case Rep. 2023 Dec 6;19(2):794-797. doi: 10.1016/j.radcr.2023.11.038. eCollection 2024 Feb.

DOI:10.1016/j.radcr.2023.11.038

PMID:38111549

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10726321/

Abstract

Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs) are rare undifferentiated thoracic malignancies with poor prognosis. They predominantly affect young men who are heavy smokers. Recently, the category of SMARCA4-deficiency-related malignancy has been expanded to include extra-thoracic sites, such as the paranasal sinuses, gastrointestinal tract, ovary, and uterus. We report a rare case of SMARCA4-deficient tumors in the adrenal gland and small intestines. SMARCA4-deficient tumors should be included in the differential diagnosis when multiple large masses with heterogeneous contrast effect and strong accumulation are seen in cancers of unknown primary on 18F-fluorodeoxyglucose (FDG) positron emission tomography with computed tomography (PET/CT).

摘要

胸段SMARCA4缺陷型未分化肿瘤（SMARCA4-UTs）是一种罕见的未分化胸段恶性肿瘤，预后较差。它们主要影响重度吸烟的年轻男性。最近，SMARCA4缺陷相关恶性肿瘤的范畴已扩大至包括胸外部位，如鼻窦、胃肠道、卵巢和子宫。我们报告了一例肾上腺和小肠中罕见的SMARCA4缺陷型肿瘤病例。当在18F-氟脱氧葡萄糖（FDG）正电子发射断层扫描与计算机断层扫描（PET/CT）检查中，不明原发癌出现多个具有异质性对比效应和强烈聚集的大肿块时，鉴别诊断应包括SMARCA4缺陷型肿瘤。