Uterine Leiomyomas with an Apparently Normal Karyotype Comprise Minor Heteroploid Subpopulations Differently Represented in vivo and in vitro

Uterine Leiomyomas with an Apparently Normal Karyotype Comprise Minor Heteroploid Subpopulations Differently Represented in vivo and in vitro Научная публикация

Журнал

Cytogenetic and Genome Research
ISSN: 1424-8581 , E-ISSN: 1424-859X

Вых. Данные

Год: 2021, Том: 161, Номер: 1-2, Страницы: 43-51 Страниц : 9 DOI: 10.1159/000513173

Ключевые слова

Cell culture; Chromosome abnormalities; MED12 mutations; Normal karyotype; Uterine leiomyoma.

Авторы

Koltsova Alla S. ^1,2 , Efimova Olga A. ¹ , Pendina Anna A. ¹ , Chiryaeva Olga G. ¹ , Osinovskaya Natalia S. ¹ , Shved Natalia Y. ¹ , Yarmolinskaya Maria I. ¹ , Polenov Nikolai I. ¹ , Kunitsa Vladislava V. ¹ , Sagurova Yanina M. ² , Tral Tatyana G. ¹ , Tolibova Gulrukhsor K. ¹ , Baranov Vladislav S. ^1,2

Организации

1	D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russian Federation
2	Department of Genetics and Biotechnology, Saint Petersburg State University, St. Petersburg, Russian Federation

In the present study, we aimed to check whether uterine leiomyomas (ULs) with an apparently normal karyotype in vitro comprise "hidden" cell subpopulations with numerical chromosome abnormalities (heteroploid cells). A total of 32 ULs obtained from 32 patients were analyzed in the study. Each UL was sampled for in vivo and in vitro cytogenetic studies. Karyotyping was performed on metaphase preparations from the cultured UL samples. A normal karyotype was revealed in 20 out of the 32 ULs, of which 9 were selected for further study based on the good quality of the interphase preparations. Then, using interphase FISH with centromeric DNA probes, we analyzed the copy number of chromosomes 7 and 16 in 1,000 uncultured and 1,000 cultured cells of each selected UL. All of the ULs included both disomic cells representing a predominant subpopulation and heteroploid cells reaching a maximum frequency of 21.6% (mean 9.8%) in vivo and 11.5% (mean 6.1%) in vitro. The spectrum of heteroploid cells was similar in vivo and in vitro and mostly consisted of monosomic and tetrasomic cells. However, their frequencies in the cultured samples differed from those in the uncultured ones: while the monosomic cells decreased in number, the tetrasomic cells became more numerous. The frequency of either monosomic or tetrasomic cells both in vivo and in vitro was not associated with the presence of MED12 exon 2 mutations in the tumors. Our results suggest that ULs with an apparently normal karyotype consist of both karyotypically normal and heteroploid cells, implying that the occurrence of minor cell subpopulations with numerical chromosome abnormalities may be considered a characteristic of UL tumorigenesis. Different frequencies of heteroploid cells in vivo and in vitro suggest their dependence on microenvironmental conditions, thus providing a pathway for regulation of their propagation, which may be important for the UL pathogenesis.

Koltsova A.S. , Efimova O.A. , Pendina A.A. , Chiryaeva O.G. , Osinovskaya N.S. , Shved N.Y. , Yarmolinskaya M.I. , Polenov N.I. , Kunitsa V.V. , Sagurova Y.M. , Tral T.G. , Tolibova G.K. , Baranov V.S.
Uterine Leiomyomas with an Apparently Normal Karyotype Comprise Minor Heteroploid Subpopulations Differently Represented in vivo and in vitro
Cytogenetic and Genome Research. 2021. V.161. N1-2. P.43-51. DOI: 10.1159/000513173 WOS OpenAlex

Опубликована online:

5 февр. 2021 г.

Web of science:	WOS:000617028000001
OpenAlex:	W3128534053

БД	Цитирований
Web of science	5
OpenAlex	9