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Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Hum Mol Genet. 2007 Apr 15; 16 Spec No 1:R7-13.HM

Abstract

Uterine leiomyomata (UL), also known as fibroids, are the most common pelvic tumors in women of reproductive age and are the primary indication for hysterectomy in the USA. Many lines of evidence indicate a strong genetic component to the development of these tumors. In fact, approximately 40% of UL have non-random, tumor-specific chromosome abnormalities which have allowed classification into well-defined subgroups (deletion of portions of 7q, trisomy 12 or rearrangements of 12q15, 6p21 or 10q22) as well as identification of candidate genes for UL predisposition. Although benign, UL have been linked to malignancy through two genomic regions on chromosome 1. Mutation of fumarate hydratase (FH) at 1q43 is known to cause the Mendelian syndromes of multiple cutaneous and uterine leiomyomata (MCL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), and recently, FH mutations have been detected in some non-syndromic UL. In addition, transcriptional profiling suggests that loss of the short arm of chromosome 1 in cellular leiomyomata, an uncommon histological variant of UL, may account in part for the presumed yet rare malignant transformation of UL to uterine leiomyosarcoma.

Authors+Show Affiliations

Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA.No affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Review

Language

eng

PubMed ID

17613550

Citation

Hodge, Jennelle C., and Cynthia C. Morton. "Genetic Heterogeneity Among Uterine Leiomyomata: Insights Into Malignant Progression." Human Molecular Genetics, vol. 16 Spec No 1, 2007, pp. R7-13.
Hodge JC, Morton CC. Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. Hum Mol Genet. 2007;16 Spec No 1:R7-13.
Hodge, J. C., & Morton, C. C. (2007). Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. Human Molecular Genetics, 16 Spec No 1, R7-13.
Hodge JC, Morton CC. Genetic Heterogeneity Among Uterine Leiomyomata: Insights Into Malignant Progression. Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R7-13. PubMed PMID: 17613550.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. AU - Hodge,Jennelle C, AU - Morton,Cynthia C, PY - 2007/9/26/pubmed PY - 2007/11/9/medline PY - 2007/9/26/entrez SP - R7 EP - 13 JF - Human molecular genetics JO - Hum Mol Genet VL - 16 Spec No 1 N2 - Uterine leiomyomata (UL), also known as fibroids, are the most common pelvic tumors in women of reproductive age and are the primary indication for hysterectomy in the USA. Many lines of evidence indicate a strong genetic component to the development of these tumors. In fact, approximately 40% of UL have non-random, tumor-specific chromosome abnormalities which have allowed classification into well-defined subgroups (deletion of portions of 7q, trisomy 12 or rearrangements of 12q15, 6p21 or 10q22) as well as identification of candidate genes for UL predisposition. Although benign, UL have been linked to malignancy through two genomic regions on chromosome 1. Mutation of fumarate hydratase (FH) at 1q43 is known to cause the Mendelian syndromes of multiple cutaneous and uterine leiomyomata (MCL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), and recently, FH mutations have been detected in some non-syndromic UL. In addition, transcriptional profiling suggests that loss of the short arm of chromosome 1 in cellular leiomyomata, an uncommon histological variant of UL, may account in part for the presumed yet rare malignant transformation of UL to uterine leiomyosarcoma. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/17613550/Genetic_heterogeneity_among_uterine_leiomyomata:_insights_into_malignant_progression_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddm043 DB - PRIME DP - Unbound Medicine ER -