A case report of hereditary leiomyomatosis and renal cell cancer

被引：5

作者：

Frey, Melissa K. ^{[1
]}

Worley, Michael J., Jr. ^{[1
]}

Heyman, Katherine P. ^{[3
]}

Caputo, Thomas A. ^{[1
,2
]}

机构：

[1] Cornell Univ, Dept Obstet & Gynecol, New York Presbyterian Hosp, Med Ctr, New York, NY 10021 USA

[2] Cornell Univ, Div Gynecol Oncol, New York Presbyterian Hosp, Med Ctr, New York, NY 10021 USA

[3] New York Presbyterian Hosp, Weill Cornell Med Coll, New York, NY USA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2010年 / 202卷 / 06期

关键词：

fumarate hydratase; hereditary; leiomyomata; renal cell cancer;

D O I：

10.1016/j.ajog.2010.03.042

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

A 27-year-old woman, gravida 0, presented with uterine and cutaneous leiomyomata. Genetic testing confirmed hereditary leiomyomatosis and renal cell cancer syndrome, an autosomal dominant disorder caused by germline mutations in the fumarate hydratase gene. Specific screening guidelines do not exist and are often individual and treatment center dependent.

引用

页码：E8 / E9

页数：2

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