Molecular-genetic characteristics of rare melanocytic tumors in children

T. S. Belysheva; Белышева Т. С.; Y. V. Vishnevskaya; Вишневская Я. В.; I. S. Kletskaya; Клецкая И. С.; A. M. Stroganova; Строганова А. М.; D. I. Sofronov; Софронов Д. И.; S. N. Mikhaylova; Михайлова С. Н.; S. M. Shumilova; Шумилова С. М.; G. S. Krasnov; Краснов Г. С.; V. V. Semenova; Семенова В. В.; T. V. Nasedkina; Наседкина Т. В.

doi:10.17650/2070-9781-2020-12-4-32-39

Molecular-genetic characteristics of rare melanocytic tumors in children

Authors: Belysheva T.S.¹, Vishnevskaya Y.V.¹, Kletskaya I.S.², Stroganova A.M.¹, Sofronov D.I.¹, Mikhaylova S.N.¹, Shumilova S.M.³, Krasnov G.S.³, Semenova V.V.³, Nasedkina T.V.³
Affiliations:
1. N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
2. Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University of the Ministry of Health of Russia
3. Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
Issue: Vol 12, No 4 (2020)
Pages: 32-39
Section: TUMORS OF THE SKIN
Published: 06.11.2020
URL: https://sarbon.abvpress.ru/jour/article/view/12
DOI: https://doi.org/10.17650/2070-9781-2020-12-4-32-39
ID: 12

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Abstract

Aim of the study– to analyze the molecular genetic profile of rare melanocytic tumors in children, including skin melanoma.

Materials and methods.The study of melanocytic neoplasms tissue samples of 11 pediatric patients with melanocytic tumors was carried out by the method of targeted genomic DNA sequencing. The coding regions of genes involved in the processes of melanogenesis, melanomogenesis, proliferation, cell adhesion were investigated.

Results.It was found that in two cases in giant congenital melanocytic nevi there were mutations in the NRASgene, the same mutations were found in samples of melanomas that developed against the background of these nevi. In both cases, the developed melanomas were highly malignant. In one patient, a mutation in the CTNNB1 gene was detected in a melanoma sample, which is absent in the nevi tissue cells. In two cases of Spitz nevus, in the lentignous melanocytic nevus and in the Reed nevus, mutations in the promoter region of the TERTgene (c.-269G> A and c.-348G> C) were detected. The V600E mutation in the BRAFgene was found in dysplastic nevus and Reed nevus; in the latter case, its combination with mutations in the TERT gene promoter was revealed.In a sample of a blue nevus, the p.Q209L mutation in the GNAQ gene was detected, which is a pathognomonic genetic aberration, associated with this type of melanocytic nevus.

Conclusion.The study of the spectrum of mutations in samples of children with rare melanocytic tumors, including melanoma, indicates that the type of mutation identified was largely associated with the clinical characteristics of the nevus.

Keywords

melanoma, children, rare melanocytic tumors, blue nevus, Spitz’s nevus, malignant transformation, molecular genetics profile, genes, mutations, alleles