The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children.

Autor:	Wertheim-Tysarowska K; Institute of Mother and Child, Medical Genetics Department, Kasprzaka 17a, PL 01-211, Warsaw, Poland., Szczygielski O; Clinic of Surgery of Children and Adolescents, Kasprzaka 17a, PL 01-211, Warsaw, Poland., Seliga K; Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Translational and Molecular Oncology Department, W. K. Roentgena 5, PL 02-781, Warsaw Poland., Tysarowski A; Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Translational and Molecular Oncology Department, W. K. Roentgena 5, PL 02-781, Warsaw Poland., Bal J; Institute of Mother and Child, Medical Genetics Department, Kasprzaka 17a, PL 01-211, Warsaw, Poland., Michalak E; Institute of Mother and Child, Department of Pathology, Kasprzaka 17a, PL 01-211, Warsaw, Poland., Rygiel AM; Institute of Mother and Child, Medical Genetics Department, Kasprzaka 17a, PL 01-211, Warsaw, Poland., Sawicka E; Clinic of Surgery of Children and Adolescents, Kasprzaka 17a, PL 01-211, Warsaw, Poland.
Jazyk:	angličtina
Zdroj:	Journal of mother and child [J Mother Child] 2021 Oct 11; Vol. 25 (1), pp. 19-24. Date of Electronic Publication: 2021 Oct 11.
DOI:	10.34763/jmotherandchild.20212501.d-21-00007
Abstrakt:	Background: Large and giant congenital melanocytic nevi (CMN), benign naevomelanocytic proliferations derived from neural crests, with a projected adult size (PAS) ≥ 20 cm, are connected to a high risk of melanoma and neurocutaneous melanosis. Among several factors, genetic alterations seem to be involved in tumorigenesis. The aim of the present study was to analyse the mutation status of NRAS and BRAF genes in resection specimens from large or giant CMN in a group of Polish patients. Material and Methods: The formalin-fixed, paraffin-embedded resection specimens from 18 patients, fixed in the years of 2006 to 2017, were included in the study. The regions containing the highest load of melanocytes were macrodissected prior to DNA isolation. The NRAS and BRAF mutation status was evaluated using qPCR. Results: We detected activating mutations in NRAS gene (codons: 12 and 61) in 7 out of the 18 (38.9%) patients. No BRAF mutations were found. Conclusion: Our study, the first molecular analysis of large/giant CMN in Polish patients, supports the hypothesis that NRAS mutation in codon 61 are frequent, recurrent mutations in large/giant CMN. Moreover, we show, for the first time, that NRAS mutations in codon 12 (p.Gly12Asp) can be also detected in giant CMN. The exact role of these genetic alterations in CMN formation remains to be elucidated. (© 2021 Katarzyna Wertheim-Tysarowska et al. published by Sciendo.)
Databáze:	MEDLINE
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