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Hidden heteroploidies in cultured uterine leiomyomas with an abnormal karyotype
https://doi.org/10.25557/2073-7998.2025.09.45-49
Abstract
Background. Conventional cytogenetic studies reveal chromosomal abnormalities in approximately 40% of uterine leiomyomas (ULs). ULs with a normal karyotype comprise minor cell subpopulations with numerical abnormalities of chromosomes 7 and 16 (so-called heteroploidies). Aim: to screen ULs with an abnormal karyotype, cultured in a medium with and without estrogen and progesterone supplementation, for cells with numerical abnormalities of chromosomes 7, 16 and X.
Methods. The frequency and the spectrum of heteroploidies in nine ULs with an abnormal karyotype, cultured in a medium with and without supplementation of estrogen and progesterone, were studied by interphase FISH using DNA probes to DXZ1, D7Z1, D16Z3 loci of chromosomes X, 7 and 16, respectively.
Results. Small populations of tetraploid cells and cells with monosomies X, 7 or 16 were detected in all UL cultures. The total frequency of heteroploid cells in UL cultures varied from 0.8 to 9.1%; tetraploid cells were predominant over monosomic cells, and cells with monosomy 7 – over monosomies 16 or X. The spectrum and the frequency of heteroploidies did not differ between UL samples cultured with and without hormones.
Conclusions. Small populations of tetraploid and monosomic cells are characteristic of cultured ULs not only with normal but also with an abnormal karyotype. The addition of estrogen and progesterone to the culture medium does not affect the frequency and the spectrum of heteroploidies.
Keywords
uterine leiomyoma,
abnormal karyotype,
heteroploidy,
tetraploidy,
monosomy,
cell culture,
sex steroid hormones,
estrogen,
progesterone
Supporting agencies: The work was carried out within the framework of fundamental scientific research No. 1024032800068-4-3.2.2.
About the Authors
A. S. Koltsova
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
O. A. Efimova
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
M. I. Yarmolinskaya
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
A. A. Pendina
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
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Review
For citations:
Koltsova A.S., Efimova O.A., Yarmolinskaya M.I., Pendina A.A. Hidden heteroploidies in cultured uterine leiomyomas with an abnormal karyotype. Medical Genetics. 2025;24(9):45-49. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.45-49
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