RESUMEN

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.

Asunto(s)

Biomarcadores de Tumor/genética , Fumarato Hidratasa/genética , Leiomioma/genética , Leiomiomatosis/genética , Mutación , Neoplasias Cutáneas/genética , Neoplasias Uterinas/genética , Adulto , Biopsia , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Herencia , Humanos , Histerectomía , Leiomioma/enzimología , Leiomioma/patología , Leiomioma/cirugía , Leiomiomatosis/enzimología , Leiomiomatosis/patología , Leiomiomatosis/cirugía , Imagen por Resonancia Magnética , Masculino , Síndromes Neoplásicos Hereditarios , Linaje , Fenotipo , Procedimientos Quirúrgicos Robotizados , Neoplasias Cutáneas/enzimología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Carga Tumoral , Miomectomía Uterina/métodos , Neoplasias Uterinas/enzimología , Neoplasias Uterinas/patología , Neoplasias Uterinas/cirugía