Tags

Type your tag names separated by a space and hit enter

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Fertil Steril. 2016 Jan; 105(1):144-8.FS

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.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania. Electronic address: klwheeler@abingtonhealth.org.Department of Biology, Susquehanna University, Selinsgrove, Pennsylvania.Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania.Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania; Abington Reproductive Medicine, Abington, Pennsylvania.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26493120

Citation

Wheeler, Karen C., et al. "Novel Fumarate Hydratase Mutation in a Family With Atypical Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer." Fertility and Sterility, vol. 105, no. 1, 2016, pp. 144-8.
Wheeler KC, Warr DJ, Warsetsky SI, et al. Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. Fertil Steril. 2016;105(1):144-8.
Wheeler, K. C., Warr, D. J., Warsetsky, S. I., & Barmat, L. I. (2016). Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. Fertility and Sterility, 105(1), 144-8. https://doi.org/10.1016/j.fertnstert.2015.09.034
Wheeler KC, et al. Novel Fumarate Hydratase Mutation in a Family With Atypical Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer. Fertil Steril. 2016;105(1):144-8. PubMed PMID: 26493120.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. AU - Wheeler,Karen C, AU - Warr,Dillon J, AU - Warsetsky,Sarah I, AU - Barmat,Larry I, Y1 - 2015/10/19/ PY - 2015/05/29/received PY - 2015/09/02/revised PY - 2015/09/24/accepted PY - 2015/10/24/entrez PY - 2015/10/24/pubmed PY - 2016/5/12/medline KW - Hereditary leiomyomatosis and renal cell cancer KW - atypical leiomyoma KW - fumarate hydratase KW - myomectomy SP - 144 EP - 8 JF - Fertility and sterility JO - Fertil. Steril. VL - 105 IS - 1 N2 - 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. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/26493120/Novel_fumarate_hydratase_mutation_in_a_family_with_atypical_uterine_leiomyomas_and_hereditary_leiomyomatosis_and_renal_cell_cancer_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(15)01962-7 DB - PRIME DP - Unbound Medicine ER -