Spontaneous and induced chromosomal aberrations in peripheral blood of women with endometriosis: evidence of genomic instability

Minerva Obstet Gynecol. 2021 Jun;73(3):369-375. doi: 10.23736/S2724-606X.21.04773-4.

Abstract

Background: Endometriosis is a prevalent gynecological disease which can lead to certain types of cancers. We investigated the spontaneous and induced chromosomal aberrations in peripheral blood lymphocytes (PBL) of endometriosis patients.

Methods: We performed a pilot study utilizing mitomycin C (MMC) to assess chromosomal instability in the peripheral blood of participants. The patient group consisted of 20 infertile endometriosis patients and the controls of 20 healthy fertile women. Blood samples were collected, and two distinct lymphocyte cultures were prepared to evaluate the baseline and the MMC induced chromosomal aberrations.

Results: The results showed a significant difference before and after MMC treatment in both groups (P<0.001) and also revealed that endometriosis patients are far more sensitive to MMC than controls (P<0.001).

Conclusions: The significantly higher frequency of induced and spontaneous chromosomal aberrations in patients can be consider as a sign of genomic instability and the defect in DNA repair mechanisms, which can be both assumed as a driver of cancer development in endometriosis patients.

MeSH terms

  • Chromosome Aberrations
  • DNA Repair
  • Endometriosis* / genetics
  • Female
  • Genomic Instability
  • Humans
  • Pilot Projects