在一个已知患有李-弗劳梅尼综合征的家族中同时诊断出肝脏PEComa：一例报告。
Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report.
作者信息
Galera López María Del Mar, Márquez Rodas Iván, Agra Pujol Carolina, García Pérez Ángela, Velasco Sánchez Enrique, Álvarez Álvarez Rosa
机构信息
Department of Medical Oncology, Hospital General Universitario Gregorio Marañón, Calle Dr. Esquerdo, 46, 28007, Madrid, Spain.
CIBERONC, Madrid, Spain.
出版信息
Clin Sarcoma Res. 2020 Nov 24;10(1):24. doi: 10.1186/s13569-020-00143-7.
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.
背景
李-佛美尼综合征（LFS）是一种常染色体显性遗传性疾病。它与p53蛋白功能丧失以及早年发生恶性肿瘤的风险增加有关。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。虽然肉瘤仅占实体瘤的1%，但在这些家族中更常被检测到。
病例报告
我们报告了两例患有LFS的同胞同时被诊断为肝血管周上皮样细胞瘤（PEComa），这是一种非常罕见的肉瘤亚型。
结论
本病例中两例同胞同时诊断为PEComa，使我们得以回顾先前报道的该遗传综合征中PEComa的发生频率，其发生率极低。尽管PEComa罕见，但在先前诊断为LFS的患者新发肝脏病变的鉴别诊断中必须考虑到它。
Zotero 插件