FEATURES OF THE FREQUENCY OF CHROMOSOME 17 POLYSOMY OCCURRENCE DEPENDING ON THE CLINICOPATHOLOGICAL CHARACTERISTICS OF BREAST CANCER

DOI: 10.22138/2500-0918-2025-22-1-43-60

O.D. Shakirova¹,², E.V. Kaigorodova¹,², S.V. Patalyak¹,²,
M.Yu. Gishchenko², N.A. Tarabanovskaya¹,²,
L.E. Sinyanskiy¹,², V.O. Tarakanova¹,²

¹Cancer Research institute, tomsk national Research Medical Center,
Russian academy of sciences, Tomsk, Russian Federation;
²Siberian state Medical university of the Ministry of Health of Russia,
Tomsk, Russian Federation

Abstract. Purpose of the study to assess the frequency of occurrence of chromosome 17 polysomy (increase in the number of CEP17) using 2 probes in invasive breast cancer depending on clinicopathological characteristics (age, preservation of menstrual function, HER2/neu status, molecular tumor type, disease stage). Materials and Methods. A retrospective study included 40 patients with primary invasive breast carcinoma treated at the Tomsk N.N. Blokhin National Medical Research Center. HER2 status was evaluated using immunohistochemistry and FISH reactions according to ASCO/CAP 2023 criteria. An increase in CEP17 signals indicates the increase in the number of this chromosome, observed in true polysomy 17 or polyploidy. In this study, the term «chromosome 17 polysomy» refers to an increase in the number of CEP17 signals. «Polysomy 17» was registered when the number of CEP17 signals was ≥3 per tumor cell nucleus. Patients with detected chromosome 17 polysomy were included in the main group, while those without polysomy were included in the comparison group. The frequency of occurrence of «chromosome 17 polysomy» was assessed based on major clinical and pathological characteristics such as age, lymph node involvement, differentiation grade, disease stage, biological subtype, and preservation of menstrual function. The differences were evaluated using Fisher's exact test (F) with Bonferroni correction. Differences were considered statistically significant at p<0.05. Results. Out of 40 patients included in the study, chromosome 17 polysomy was found in 7 patients with BC, accounting for 17.5%. When analyzing the HER2 status, no discrepancies were found between IHC and FISH data. In the group with chromosome 17 polysomy, there was heterogeneity in IHC test results. In 10% of cases, chromosome 17 polysomy was found with HER2 protein overexpression but without gene amplification. When comparing clinicopathological data, statistically significant differences were found in terms of menstrual function preservation (p≤0.05) at the time of diagnosis. Chromosome 17 polysomy was more common in patients with preserved menstrual function. Conclusion. When determining HER2 status by the FISH method, it is necessary to use dual-probe systems not only as control but also to determine 17 chromosome ploidy. This could be useful in identifying subgroups of BC patients with genetic and clinical characteristics. The association between chromosome 17 polysomy and menstrual function preservation makes further research on this chromosomal abnormality essential.

Keywords: breast cancer, Her2/neu (ERBB2), fluorescence in situ hybridization, chromosome 17 polysomy, CEP17

There is no conflict of interest.
Contact details of the corresponding author:
Olesia D. Shakirov
shakirova@oncology.tomsk.ru
Received: 20.01.2025
For citation: Shakirova O.D., Kaigorodova E.V., Patalyak S.V., Gishchenko M.Yu., Tarabanovskaya N.A., Sinyanskiy L.E, Tarakanova V.O. Features of the frequency of chromosome 17 polysomy occurrence depending on the clinicopathological characteristics of breast cancer. [Online] Vestn. Ural. Med. Akad. Nauki. = Journal of Ural Medical Academic Science. 2025, Vol. 22, no. 1, pp. 43–60. DOI: 10.22138/2500-0918-2025-22-1-43-60 (In Russ)

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Аuthors
Olesia D. Shakirova
Cancer Research Institute, Тomsk National Research Medical Center, Russian Academy of Sciences
Postgraduate Student
Department of Oncology, Siberian State Medical University of the Ministry of Health of Russia
Assistant
Tomsk, Russian Federation
shakirova@oncology.tomsk.ru

Evgenya V.Kaigorodova
Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences
MD, DSc, Leading Researcher, Department of General and Molecular Pathology
Professor of the Department of Biochemistry and Molecular Biology with the Course of 
Clinical Laboratory Diagnostics
Siberian State Medical University of the Ministry of Health of Russia
Tomsk, Russian Federation
kaigorodova@oncology.tomsk.ru
ORCID: 0000-0003-4378-6915

Stanislav V. Patalyak
Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences
MD, PhD, Head of the Department of Systemic and Personalized Cancer Therapy
Siberian State Medical University of the Ministry of Health of Russia
Assistant, Department of Oncology
Tomsk, Russian Federation
ORCID: 0000-0002-9468-1980

Maksim Yu. Grishchenko
Siberian State Medical University of the Ministry of Health of Russia
MD, PhD, Head of the Department of Surgery Division with a Mobilization Training and Emergency Medicne Course

Natalia A.Tarabanovskaya
Department of General Oncology, Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences
MD, PhD, Senior Researcher
Siberian State Medical University of the Ministry of Health of Russia
Assistant, Department of Oncology
Tomsk, Russian Federation
ORCID: 0000-0003-4378-6915

Valeria O. Tarakanova
Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences
Junior Researcher, Department of Systemic and Personalized Cancer Therapy
Siberian State Medical University of the Ministry of Health of Russia
Assistant, Department of Oncology
Tomsk, Russian Federation
ORCID: 0000-0001-9472-017X

Lev E. Sinyanskiy
Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences
MD, PhD, Junior Researcher, Department of Thoracic Oncology
Assistant, Department of Oncology
Siberian State Medical University of the Ministry of Health of Russia
Tomsk, Russian Federation
ORCID: 0000-0003-0370-5201or