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Cancer Genet. 2018 Apr;222-223:1-8. doi: 10.1016/j.cancergen.2018.01.001. Epub 2018 Feb 19.

Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.

Author information

1
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA.
2
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
3
Harvard Medical School, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
4
Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
5
Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, MN 55905, USA.
6
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. Electronic address: cmorton@bwh.harvard.edu.

Abstract

Black women are disproportionately affected by uterine leiomyomata (UL), or fibroids, compared to other racial groups, having a greater lifetime risk of developing UL and an earlier age of diagnosis. In order to elucidate molecular and genetic mechanisms responsible for the increased prevalence and morbidity associated with UL in black women, clinical, pathologic, cytogenetic, and select molecular profiling (MED12 mutation analysis) of 75 self-reported black women undergoing surgical treatment for UL was performed. Our observations are broadly representative of previous cytogenetic studies of UL: karyotypically abnormal tumors were detected in 30.7% of women and 17.4% of analyzed tumors. No notable association was observed between race and increased occurrence of cytogenetic abnormalities that might contribute to any population-specific morbidity or prevalence rate. Our data on MED12 mutation analyses (73.2% of tumors harbored a MED12 mutation) provide additional support for a significant role of MED12 in tumorigenesis. Although the effect of MED12-mediated tumorigenesis appears significant irrespective of race, other genetic events such as the distribution of karyotypic abnormalities appear differently in black women. This case series indicates that presently recognized genetic and molecular characteristics of UL do not appear to explain the increased prevalence and morbidity of UL in black women.

KEYWORDS:

Fibroids; clinical; cytogenetic; molecular; race

PMID:
29666002
PMCID:
PMC5909837
DOI:
10.1016/j.cancergen.2018.01.001
[Indexed for MEDLINE]
Free PMC Article

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