Giant uterine fibroids with chromosome 22 monosomy. A clinical case

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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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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 Petersburg

Anna 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 Petersburg

Nikolai 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 Petersburg

Olga 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 Petersburg

Alla 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 Petersburg

Olga 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 Petersburg

Natalia 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 Petersburg

Natalia 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 Petersburg

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Supplementary files

Supplementary Files
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1. JATS XML
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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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
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от 15.07.2002 г.



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