Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

被引：0

作者：

Choi, Grace ^{[1
]}

Kimonis, Virginia ^{[2
]}

Hall, Katherine ^{[2
]}

Lau, Wei Ling ^{[1
]}

机构：

[1] Univ Calif Irvine, Dept Med, Div Nephrol, Irvine, CA 92717 USA

[2] Univ Calif Irvine, Dept Med, Div Genet & Metab, Irvine, CA 92717 USA

来源：

AMERICAN JOURNAL OF THE MEDICAL SCIENCES | 2020年 / 360卷 / 06期

关键词：

HLRCC; Hereditary leiomyomatosis and renal cell cancer; Reed's syndrome; FH; MUTATIONS; UPDATE; RISK;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare familial cancer syndrome with a germline mutation in the fumarate hydratase gene. Affected individuals are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary renal cell carcinoma. We present a case of a mother and son pair affected with HLRCC, discuss clinical management, and examine potential syndromic manifestations in extended family members. Annual imaging surveillance for kidney cancer is recommended since 20-30% of individuals develop aggressive papillary type II renal cell carcinoma that can be difficult to treat once it has metastasized.

引用

页码：724 / 727

页数：4

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