Novel three-way complex rearrangement of TRPM1-PUM1-LCK in a case of agminated Spitz nevi arising in a giant congenital hyperpigmented macule.
LCK
PUM1
TRPM1
Spitz nevus
agminated Spitz nevi
Journal
Pigment cell & melanoma research
ISSN: 1755-148X
Titre abrégé: Pigment Cell Melanoma Res
Pays: England
ID NLM: 101318927
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
30
01
2020
revised:
06
04
2020
accepted:
20
04
2020
pubmed:
10
5
2020
medline:
11
6
2021
entrez:
10
5
2020
Statut:
ppublish
Résumé
The genetic anomalies associated with the agminated variant of Spitz nevus have so far been limited to HRAS G13R mutations, especially when arising within a nevus spilus. A previous report exposed the case of a man with a giant pigmented macule involving his upper right limb and trunk. Since childhood, Spitz nevi have been periodically arising, within the pigmented area. The histopathology of several lesions displayed the usual criteria of junctional, compound, or intradermal Spitz nevi with a diversity of cytomorphological and architectural features. Some lesions spontaneously regressed. Genetic studies confirmed in three lesions an identical translocation involving TRPM1, PUM1, and LCK. No mutations in HRAS, NRAS, BRAF, or other known fusion genes linked to Spitz nevus were detected. LCK break-apart fluorescence in situ hybridization confirmed the rearrangement was present not only in the melanocytic proliferation but also in the surrounding non-spitzoid melanocytes. This report expands the list of genetic alterations involved both in giant congenital macules and in agminated Spitz nevi, and also extends the concept of mosaicism in melanocytes to gene translocations.
Substances chimiques
PUM1 protein, human
0
RNA-Binding Proteins
0
TRPM Cation Channels
0
TRPM1 protein, human
0
LCK protein, human
EC 2.7.10.2
Lymphocyte Specific Protein Tyrosine Kinase p56(lck)
EC 2.7.10.2
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
767-772Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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