Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
OBJECTIVE
To describe a novel mutation in the fumarate hydratase (FH) gene in a family with atypical uterine leiomyomas.


METHODS
Case report and review of the literature.


METHODS
Academic community hospital.


METHODS
Three sisters who presented as nulligravidas aged 27-30 years with large atypical uterine leiomyomas.


METHODS
Abdominal myomectomy, robotic myomectomy, hysterectomy, gene sequencing.


METHODS
Identification of a family with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome and a novel mutation in the FH gene.


RESULTS
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.


CONCLUSIONS
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.
Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania. Electronic address: klwheeler@abingtonhealth.org.
Karen C
KC
Wheeler
Department of Biology, Susquehanna University, Selinsgrove, Pennsylvania.
Dillon J
DJ
Warr
Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania.
Sarah I
SI
Warsetsky
Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania; Abington Reproductive Medicine, Abington, Pennsylvania.
Larry I
LI
Barmat
D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007044:Hysterectomy; D007889:Leiomyoma / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D018231:Leiomyomatosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary; D010375:Pedigree; D010641:Phenotype; D065287:Robotic Surgical Procedures; D012878:Skin Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D047368:Tumor Burden; D063186:Uterine Myomectomy / Q000379:methods; D014594:Uterine Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery
D014408:Biomarkers, Tumor; D005649:Fumarate Hydratase
Hereditary leiomyomatosis and renal cell cancer; atypical leiomyoma; fumarate hydratase; myomectomy