Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

Jong-Chul Shin, J C Shin, Helen L. Ross, H L Ross, Sherman Elias, S Elias, D D Nguyen, Dianne Nguyen, Dorothy Mitchell‐Leef, D Mitchell-Leef, J L Simpson, Joe Leigh Simpson, F Z Bischoff, Farideh Z. Bischoff
Human genetics · 1997 · vol. 100(3-4) , pp. 401–406 · doi:10.1007/s004390050524 · PMID:9272163 · W1982948669
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This study used multi-color FISH to assess chromosomal numeric alterations in endometriosis, finding increased monosomy for chromosomes 17 and 16, and trisomy for chromosome 11 in some samples.

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Abstract Endometriosis affects 10–15% of women of reproductive age and is a common cause of infertility and pelvic pain. Although endometriosis is characterized by abnormal growth or turn-over of cells, the genetic changes involved remain unclear. We employed a multi-color fluorescence in situ hybridization (FISH) strategy to determine the incidence of somatic chromosomal numeric alterations in severe/late stage endometriosis. Using alpha-satellite sequence-specific DNA probes for chromosomes 7, 8, 11, 12, 16, 17, and 18, simultaneous two- and three-color FISH were performed to evaluate the frequency of monosomic, disomic, and trisomic cells in normal control and endometriotic tissue specimens. In one of four endometriosis samples studied, a significantly higher frequency of monosomy for chromosome 17 (14.8%, χ2 4 = 53.3, P < 0.0001) and 16 (8.8%, χ2 4 = 11.4, P < 0.05) was observed. An increased number of cells with chromosome 11 trisomy (14.8%, χ2 4 = 96.2, P < 0.0001) were detected in a second case. In a third case, a distinct colony of nuclei with chromosome 16 monosomy (14.1%, χ2 4 = 21.39, P < 0.005) was detected. Acquired chromosome-specific aneuploidy may be involved in endometriosis, reflecting clonal expansion of chromosomally abnormal cells. That candidate tumor suppressor genes and oncogenes have been mapped to chromosomes 11, 16, and 17 suggests that chromosomal loss or gain plays a role in the development and/or progression of endometriosis. Similar content being viewed by others Author information Authors and Affiliations Additional information Received: 27 December 1997 / Accepted: 14 April 1997 Rights and permissions About this article Cite this article Shin, JC., Ross, H., Elias, S. et al. Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH). Hum Genet 100, 401–406 (1997). https://doi.org/10.1007/s004390050524 Issue date: DOI: https://doi.org/10.1007/s004390050524

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Aneuploidy Endometriosis In Situ Hybridization, Fluorescence Color Endometriosis Female Humans In Situ Hybridization, Fluorescence

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