Giant uterine fibroids with chromosome 22 monosomy. A clinical case

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We present a clinical case of giant uterine fibroids in this research, with the peculiarity of surgical treatment and the course of the postoperative period described. A series of genetic studies specific to uterine fibroids was performed, namely, mutations in the MED12 gene, overexpression of the HMGA2 gene, and chromosomal imbalance. We did not detect mutations of exon 2 of the MED12 gene and an increase in the expression of the HMGA2 gene in the patient’s myomatous node sample. The molecular karyotype arr(22)×1 (chromosome 22 monosomy) was established by comparative genomic hybridization in the tissue of giant uterine fibroids.

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作者简介

Maria Yarmolinskaya

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: m.yarmolinskaya@gmail.com
ORCID iD: 0000-0002-6551-4147
SPIN 代码: 3686-3605
Scopus 作者 ID: 7801562649
Researcher ID: P-2183-2014

MD, Dr. Sci. (Med.), Professor, Professor of the Russian Academy of Sciences

俄罗斯联邦, Saint Petersburg

Anna Tsypurdeeva

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: tsypurdeevan@mail.ru
ORCID iD: 0000-0001-7774-2094
SPIN 代码: 5208-9707

MD, Cand. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Nikolai Polenov

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

编辑信件的主要联系方式.
Email: polenovdoc@mail.ru
ORCID iD: 0000-0001-8575-7026
SPIN 代码: 9387-1703

MD, Cand. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Olga Malysheva

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: omal99@mail.ru
ORCID iD: 0000-0002-8626-5071
SPIN 代码: 1740-2691
Scopus 作者 ID: 6603763549
Researcher ID: O-9897-2014

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Alla Koltsova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: rosenrot15@yandex.ru
ORCID iD: 0000-0002-6587-9429
SPIN 代码: 3038-4096
Scopus 作者 ID: 57189621865
Researcher ID: O-1814-2017
俄罗斯联邦, Saint Petersburg

Anna Pendina

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: pendina@mail.ru
ORCID iD: 0000-0001-9182-9188
SPIN 代码: 3123-2133
Scopus 作者 ID: 6506976983
Researcher ID: F-4396-2017

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Olga Efimova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: efimova_o82@mail.ru
ORCID iD: 0000-0003-4495-0983
SPIN 代码: 6959-5014
Scopus 作者 ID: 14013324600
Researcher ID: F-5764-2014

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Natalia Osinovskaya

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: natosinovskaya@mail.ru
ORCID iD: 0000-0001-7831-9327
SPIN 代码: 3190-2307
Scopus 作者 ID: 6507794800
Researcher ID: K-1168-2018

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Natalia Shved

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: natashved@mail.ru
ORCID iD: 0000-0001-6354-9226
SPIN 代码: 8276-1720

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

参考

  1. Osinovskaya NS, Ivashchenko TE, Dolinskii AK, et al. MED12 gene mutations in women with uterine myoma. Genetika. 2013;49(12):1426–1431. (In Russ.) doi: 10.7868/S0016675813120084
  2. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. New York; 2001.
  3. Cleynen I, Van de Ven WJ. The HMGA proteins: a myriad of functions (review). Int J Oncol. 2008;32(2):289–305.
  4. Pallante P, Sepe R, Puca F, et al. High mobility group a proteins as tumor markers. Front Med (Lausanne). 2015;2. doi: 10.3389/fmed.2015.00015
  5. Mäkinen N, Mehine M, Tolvanen J, et al. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science. 2011;334(6053):252–255. doi: 10.1126/science.1208930
  6. Osinovskaya NS, Malysheva OV, Shved NY, et al. Frequency and spectrum of MED12 exon 2 mutations in multiple versus solitary uterine leiomyomas from russian patients. Int J Gynecol Pathol. 2016;35(6):509–515. doi: 10.1097/PGP.0000000000000255
  7. Koltsova AS, Efimova OA, Pendina AA. A view on uterine leiomyoma genesis through the prism of genetic, epigenetic and cellular heterogeneity. Int J Mol Sci. 2023;24(6). doi: 10.3390/ijms24065752
  8. Sandberg AA. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: leiomyoma. Cancer Genet Cytogenet. 2005;158(1):1–26. doi: 10.1016/j.cancergencyto.2004.08.025
  9. Hu J, Surti U. Subgroups of uterine leiomyomas based on cytogenetic analysis. Hum Pathol. 1991;22(10):1009–1016. doi: 10.1016/0046-8177(91)90009-e
  10. Pandis N, Heim S, Bardi G, et al. Chromosome analysis of 96 uterine leiomyomas. Cancer Genet Cytogenet. 1991;55(1):11–18. doi: 10.1016/0165-4608(91)90229-n
  11. Brosens I, Deprest J, Dal Cin P, et al. Clinical significance of cytogenetic abnormalities in uterine myomas. Fertil Steril. 1998;69(2):232–235. doi: 10.1016/s0015-0282(97)00472-x
  12. Rein MS, Powell WL, Walters FC, et al. Cytogenetic abnormalities in uterine myomas are associated with myoma size. Mol Hum Reprod. 1998;4(1):83–86. doi: 10.1093/molehr/4.1.83
  13. Kataoka S, Yamada H, Hoshi N, et al. Cytogenetic analysis of uterine leiomyoma: the size, histopathology and GnRHa-response in relation to chromosome karyotype. Eur J Obstet Gynecol Reprod Biol. 2003;110(1):58–62. doi: 10.1016/s0301-2115(03)00075-7
  14. Gibas Z, Griffin CA, Emanuel BS. Clonal chromosome rearrangements in a uterine myoma. Cancer Genet Cytogenet. 1988;32(1):19–24. doi: 10.1016/0165-4608(88)90306-8
  15. Kiechle-Schwarz M, Sreekantaiah C, Berger CS, et al. Nonrandom cytogenetic changes in leiomyomas of the female genitourinary tract. A report of 35 cases. Cancer Genet Cytogenet. 1991;53(1):125–136. doi: 10.1016/0165-4608(91)90124-d
  16. Vanni R, Lecca U, Faa G. Uterine leiomyoma cytogenetics. II. Report of forty cases. Cancer Genet Cytogenet. 1991;53(2):247–256. doi: 10.1016/0165-4608(91)90101-y
  17. Quade BJ, Weremowicz S, Neskey DM, et al. Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Res. 2003;63(6):1351–1358.
  18. Mehine M, Kaasinen E, Heinonen HR, et al. Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers. Proc Natl Acad Sci USA. 2016;113(5):1315–1320. doi: 10.1073/pnas.1518752113
  19. Nucci MR, Drapkin R, Dal Cin P, et al. Distinctive cytogenetic profile in benign metastasizing leiomyoma: pathogenetic implications. Am J Surg Pathol. 2007;31(5):737–743. doi: 10.1097/01.pas.0000213414.15633.4e
  20. Wu RC, Chao AS, Lee LY, et al. Massively parallel se quencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma. Oncotarget. 2017;8(29):47547–47554. doi: 10.18632/oncotarget.17708
  21. Raposo MI, Meireles C, Cardoso M, et al. Benign metastasizing leiomyoma of the uterus: rare manifestation of a frequent pathology. Case Rep Obstet Gynecol. 2018;2018. doi: 10.1155/2018/5067276
  22. Holzmann C, Kuepker W, Rommel B, et al. Reasons to reconsider risk associated with power morcellation of uterine fibroids. In Vivo. 2020;34(1):1–9. doi: 10.21873/invivo.11739

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2. Fig. 1. Appearance of the patient before surgery: a — front view; b — side view

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3. Fig. 2. View of the surgical wound (the myomatous node lying therein)

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4. Fig. 3. View of the removed myomatous node (weight 14 kg 800 g)

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5. Fig. 4. The removed myomatous node on the cut

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6. Fig. 5. Appearance of the anterior abdominal wall after surgery

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7. Fig. 6. MED12 gene sequence in codon 44 region (“hot spot”)

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8. Fig. 7. Comparative genomic hybridization data for the uterine fibroid sample: a, whole genome view; b, chromosome 22. The deletion of all unique sequences of chromosome 22 in a non-mosaic form is visible

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