Giant uterine fibroids with chromosome 22 monosomy. A clinical case
- Authors: Yarmolinskaya M.I.1, Tsypurdeeva A.A.1, Polenov N.I.1, Malysheva O.V.1, Koltsova A.S.1, Pendina A.A.1, Efimova O.A.1, Osinovskaya N.S.1, Shved N.Y.1
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Affiliations:
- The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
- Issue: Vol 72, No 3 (2023)
- Pages: 117-125
- Section: Theory and Practice
- URL: https://journals.rcsi.science/jowd/article/view/131212
- DOI: https://doi.org/10.17816/JOWD375307
- ID: 131212
Cite item
Abstract
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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##article.viewOnOriginalSite##About the authors
Maria I. 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-code: 3686-3605
Scopus Author ID: 7801562649
ResearcherId: P-2183-2014
MD, Dr. Sci. (Med.), Professor, Professor of the Russian Academy of Sciences
Russian Federation, Saint PetersburgAnna A. 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-code: 5208-9707
MD, Cand. Sci. (Med.)
Russian Federation, Saint PetersburgNikolai I. Polenov
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Author for correspondence.
Email: polenovdoc@mail.ru
ORCID iD: 0000-0001-8575-7026
SPIN-code: 9387-1703
MD, Cand. Sci. (Med.)
Russian Federation, Saint PetersburgOlga V. 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-code: 1740-2691
Scopus Author ID: 6603763549
ResearcherId: O-9897-2014
Cand. Sci. (Biol.)
Russian Federation, Saint PetersburgAlla S. 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-code: 3038-4096
Scopus Author ID: 57189621865
ResearcherId: O-1814-2017
Russian Federation, Saint Petersburg
Anna A. 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-code: 3123-2133
Scopus Author ID: 6506976983
ResearcherId: F-4396-2017
Cand. Sci. (Biol.)
Russian Federation, Saint PetersburgOlga A. 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-code: 6959-5014
Scopus Author ID: 14013324600
ResearcherId: F-5764-2014
Cand. Sci. (Biol.)
Russian Federation, Saint PetersburgNatalia S. 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-code: 3190-2307
Scopus Author ID: 6507794800
ResearcherId: K-1168-2018
Cand. Sci. (Biol.)
Russian Federation, Saint PetersburgNatalia Yu. 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-code: 8276-1720
Cand. Sci. (Biol.)
Russian Federation, Saint PetersburgReferences
- 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
- Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. New York; 2001.
- Cleynen I, Van de Ven WJ. The HMGA proteins: a myriad of functions (review). Int J Oncol. 2008;32(2):289–305.
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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.
- 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
- 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
- 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
- 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
- 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