Comparison of mutation profiles in primary melanomas and corresponding nodal naevi using next-generation sequencing.
Clin Exp Dermatol
; 47(2): 373-380, 2022 Feb.
Article
em En
| MEDLINE
| ID: mdl-34591998
ABSTRACT
BACKGROUND:
Nodal naevi (NN) represent aggregates of melanocytes within peripheral lymph nodes. NN are relatively often found in patients with malignant melanoma (MM), and may mimic metastatic disease.AIM:
To study mutation profiles in MM and NN to find out whether NN descend from a primary MM.METHODS:
Next-generation sequencing was performed on formalin-fixed paraffin-embedded tissue of 26 pairs of primary MM and corresponding NN detected by sentinel lymph node biopsy, and 29 MM-characteristic genes were investigated.RESULTS:
In this study, 90% of mutations were detected exclusively in either MM or NN, but not both, in the same patient; the percentage of identical NN and MM mutations in the same individual was only 10%. The most frequently discovered shared mutations were a C>G substitution in the CDKN2A gene and in-frame deletion in ARID1A. Oncogenic driver mutations were frequently observed in MM but only rarely in NN. About three-quarters of mutations in both MM and NN were characterized by C>T or G>A substitutions. The detected rate of ultraviolet (UV)-related C>T base changes was comparably high in both primary MM (35%) and NN (32%).CONCLUSIONS:
Based on our data, it seems that NN descend from previously UV-exposed BRAF wildtype cutaneous melanocytes, rather than from primary MM or arrested progenitor cells.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Proteínas Proto-Oncogênicas B-raf
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Melanoma
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Mutação
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Nevo Pigmentado
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article