Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion.
RAF1 fusion
congenital melanoma
giant congenital nevus
rhabdomyosarcomatous differentiation
small-cell melanoma
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 2019
09 2019
Historique:
received:
19
10
2018
revised:
10
03
2019
accepted:
23
03
2019
pubmed:
5
4
2019
medline:
26
3
2020
entrez:
5
4
2019
Statut:
ppublish
Résumé
A girl, born with a posterior lumbosacral giant congenital nevus, developed a central nodule that expanded over a period of 14 months into a 10-cm pedunculated mass. Histological analysis of the mass revealed melanoma of myxoid, small round-cell type with areas of rhabdomyosarcomatous transformation confirmed by immunohistochemistry. RNA sequencing identified an in-frame SASS6(e14)-RAF1(e8) fusion in both components and the nevus. A RAF1 FISH break-apart test found a balanced rearrangement pattern in the nevus and an unbalanced pattern in the malignant areas. Wild-type status of NRAS and BRAF was confirmed by NGS techniques. The array-CGH profile displayed copy number alterations commonly found in rhabdomyosarcomas. Despite intensive treatment, widespread metastatic evolution of the melanomatous component was observed.
Substances chimiques
Proto-Oncogene Proteins c-raf
EC 2.7.11.1
Raf1 protein, human
EC 2.7.11.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
708-713Informations de copyright
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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