Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report.

Clinical Sarcoma Research Pub Date : 2020-11-24 DOI:10.1186/s13569-020-00143-7

María Del Mar Galera López, Iván Márquez Rodas, Carolina Agra Pujol, Ángela García Pérez, Enrique Velasco Sánchez, Rosa Álvarez Álvarez

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引用次数: 4

Abstract

Background: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disease. It is associated with the loss of function of the p53 protein and an increased risk of malignant tumor development at early age. The most frequently detected tumors include breast cancer, sarcomas, leukemia, brain tumors, and adrenocortical carcinomas. While sarcomas account for only 1% of solid tumors, they are more frequently detected in these families.

Case presentation: We report a simultaneous diagnosis of hepatic perivascular epithelioid cell tumor (PEComa), a very rare subtype of sarcoma, in two siblings with a LFS.

Conclusions: The simultaneous diagnosis of PEComa in two siblings presented in this case allowed us to review the frequency of PEComa in this genetic syndrome previously reported, which was very little. Despite its rarity, PEComa must be considered in the differential diagnosis of new-onset liver lesions in patients who were previously diagnosed with LFS.

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同时诊断肝脏PEComa在一个家庭与已知的Li-Fraumeni综合征:1例报告。

背景:Li-Fraumeni综合征(LFS)是一种常染色体显性遗传性疾病。它与p53蛋白的功能丧失和早期恶性肿瘤发展的风险增加有关。最常检测到的肿瘤包括乳腺癌、肉瘤、白血病、脑肿瘤和肾上腺皮质癌。虽然肉瘤只占实体瘤的1%，但它们在这些家庭中更常被发现。病例介绍:我们报告了同时诊断为肝血管周围上皮样细胞瘤(PEComa)，一种非常罕见的肉瘤亚型，在两个兄弟姐妹中患有LFS。结论:在本病例中，两个兄弟姐妹同时诊断为PEComa，这使我们能够回顾以前报道的PEComa在这种遗传综合征中的发病率，这是非常少的。尽管PEComa很罕见，但对于先前诊断为LFS的患者，在新发肝脏病变的鉴别诊断中必须考虑PEComa。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Clinical Sarcoma Research

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期刊介绍： Clinical Sarcoma Research considers for publication articles related to research on sarcomas, including both soft tissue and bone. The journal publishes original articles and review articles on the diagnosis and treatment of sarcomas along with new insights in sarcoma research, which may be of immediate or future interest for diagnosis and treatment. The journal also considers negative results, especially those from studies on new agents, as it is vital for the medical community to learn whether new agents have been proven effective or ineffective within subtypes of sarcomas. The journal also aims to offer a forum for active discussion on topics of major interest for the sarcoma community, which may be related to both research results and methodological topics.