The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children
, , , , , , e | 11 ott 2021
Article Category: Original paper
Pubblicato online: 11 ott 2021
Pagine: 19 - 24
Ricevuto: 07 mar 2021
Accettato: 22 apr 2021
DOI: https://doi.org/10.34763/jmotherandchild.20212501.d-21-00007
Parole chiave
© 2021 Katarzyna Wertheim-Tysarowska et al. published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
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
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
Results
We detected activating mutations in
Conclusion
Our study, the first molecular analysis of large/giant CMN in Polish patients, supports the hypothesis that