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Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.

Abstract：

OBJECTIVE:To describe a novel mutation in the fumarate hydratase (FH) gene in a family with atypical uterine leiomyomas. DESIGN:Case report and review of the literature. SETTING:Academic community hospital. PATIENT(S):Three sisters who presented as nulligravidas aged 27-30 years with large atypical uterine leiomyomas. INTERVENTION(S):Abdominal myomectomy, robotic myomectomy, hysterectomy, gene sequencing. MAIN OUTCOME MEASURE(S):Identification of a family with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome and a novel mutation in the FH gene. RESULT(S):Two of the three sisters tested positive for a novel FH mutation p.Leu99Glufsx6. The eldest sister was clinically diagnosed with HLRCC. The patients' father also carries the same mutation in the FH gene. The patients and their father are now undergoing yearly screening for renal cancer. CONCLUSION(S):Patients with HLRCC are at risk for developing renal cancer as well as losing their fertility via early hysterectomy. Physicians must be aware of this condition and refer at-risk individuals for genetic testing.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Wheeler KC,Warr DJ,Warsetsky SI,Barmat LI

doi

10.1016/j.fertnstert.2015.09.034

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

144-8

issue

1

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(15)01962-7

journal_volume

105

pub_type

杂志文章

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