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

Katarzyna Wertheim-Tysarowska; Orest Szczygielski; Katarzyna Seliga; Andrzej Tysarowski; Jerzy Bal; Elżbieta Michalak; Agnieszka Magdalena Rygiel; Ewa Sawicka

doi:10.34763/jmotherandchild.20212501.d-21-00007

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

Journal of Mother and Child

Volume 25 (2021): Issue 1 (March 2021)

By: Katarzyna Wertheim-Tysarowska , Orest Szczygielski , Katarzyna Seliga , Andrzej Tysarowski , Jerzy Bal , Elżbieta Michalak , Agnieszka Magdalena Rygiel and Ewa Sawicka

Open Access

|Oct 2021

Abstract

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.

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Articles in this issue

DOI: https://doi.org/10.34763/jmotherandchild.20212501.d-21-00007 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488

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Language: English

Page range: 19 - 24

Submitted on: Mar 7, 2021

Accepted on: Apr 22, 2021

Published on: Oct 11, 2021

Published by: Institute of Mother and Child

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

Keywords:

Congenital melanocytic nevi,

CMN,

GCMN,

NRAS

Related subjects:

Medicine,

Clinical medicine,

Pediatrics and juvenile medicine,

Paediatric haematology and oncology,

Public health

© 2021 Katarzyna Wertheim-Tysarowska, Orest Szczygielski, Katarzyna Seliga, Andrzej Tysarowski, Jerzy Bal, Elżbieta Michalak, Agnieszka Magdalena Rygiel, Ewa Sawicka, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 25 (2021): Issue 1 (March 2021)