[与肾细胞癌相关的遗传性平滑肌瘤病综合征。病例报告]

[Hereditary leiomyomatosis syndrome associated with renal cell carcinoma. A case report].

作者信息

González Ibáñez María Victoria, Ruiz Cabezas Lismary, Moreno Ontalba Alicia, Rubio Fernández Alejandro, Mayoral Guisado Carlos, Flores Barranquero Manuela, Díaz Delgado Mario

机构信息

Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.

出版信息

Rev Esp Patol. 2021 Jul-Sep;54(3):193-196. doi: 10.1016/j.patol.2019.07.001. Epub 2019 Aug 22.

DOI:10.1016/j.patol.2019.07.001

PMID:34175032

Abstract

Hereditary leiomyomatosis (HL) is a rare autosomal dominant syndrome resulting from a mutation in the germline of the fumarate hydratase (FH) gene. Patients with this syndrome have an increased risk of cutaneous and uterine smooth muscle tumors as well as renal cancer. Renal carcinoma associated with hereditary leiomyomatosis (HLRCC) was recognized as a subtype of independent renal tumor in the 2016 WHO classification. We present a case of HLRCC occurring in a 39-year-old man with no family history or specific skin manifestations at the time of diagnosis.

摘要

遗传性平滑肌瘤病（HL）是一种罕见的常染色体显性综合征，由延胡索酸水合酶（FH）基因种系突变引起。患有这种综合征的患者患皮肤和子宫平滑肌肿瘤以及肾癌的风险增加。与遗传性平滑肌瘤病相关的肾癌（HLRCC）在2016年世界卫生组织分类中被确认为一种独立的肾肿瘤亚型。我们报告一例HLRCC病例，该病例发生在一名39岁男性身上，诊断时无家族史或特定皮肤表现。