Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience

Joseph T. Rabban,Emily Chan,Julie Mak,Charles Zaloudek,Karuna Garg

Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience

2019

Joseph T. Rabban
Emily Chan
Julie Mak
Charles Zaloudek
Karuna Garg

Pathology-based screening of uterine smooth muscle tumors (uSMT) for morphology suggestive of fumarate hydratase deficiency (FH-d morphology) has been proposed as a method to identify women at increased risk for hereditary leiomyomatosis renal cell carcinoma (HLRCC) syndrome. For 5 years our clinica

Keywords:

Fumarase
Pathology
Renal cell carcinoma
Leiomyomatosis
Medicine
Smooth Muscle Tumor
Germline mutation
Genetic counseling
Fumarate Hydratase Deficiency
increased risk

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