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

Shin, JC, Ross, HL, Elias, S et al. (1997). Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH) . 100(3-4), 401-406. 10.1007/s004390050524

cited authors

  • Shin, JC; Ross, HL; Elias, S; Nguyen, DD; Mitchell-Leef, D; Simpson, JL; Bischoff, FZ

fiu authors

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%, χ24 = 53.3, P < 0.0001) and 16 (8.8%, χ24 = 11.4, P < 0.05) was observed. An increased number of cells with chromosome 11 trisomy (14.8%, χ24 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%, χ24 = 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.

publication date

  • September 25, 1997

Digital Object Identifier (DOI)

start page

  • 401

end page

  • 406

volume

  • 100

issue

  • 3-4