Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion

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  transformat...

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Bibliographic Details
Published in:Pigment cell and melanoma research 2019-09, Vol.32 (5), p.708-713
Main Authors: Baltres, Aline, Salhi, Aicha, Houlier, Aurelie, Pissaloux, Daniel, Tirode, Franck, Haddad, Véronique, Karanian, Marie, Ysmail‐Dahlouk, Salim, Boukendakdji, Fatma, Dahlouk, Djazia, Allaoua, Fateh, Metref, Marzak, Djeridane, Assya, Fraitag, Sylvie, de la Fouchardière, Arnaud
Format: Article
Language:English
Subjects:
Cell Differentiation
Child, Preschool
congenital melanoma
Copy number
Female
Gene Fusion
Gene sequencing
Genetic transformation
giant congenital nevus
Girls
Humans
Immunohistochemistry
Melanoma
Melanoma - complications
Melanoma - genetics
Melanoma - pathology
Metastases
Nevus
Nevus, Pigmented - complications
Nevus, Pigmented - genetics
Nevus, Pigmented - pathology
Proto-Oncogene Proteins c-raf - genetics
RAF1 fusion
Raf1 gene
Rhabdomyosarcoma
Rhabdomyosarcoma - complications
Rhabdomyosarcoma - genetics
Rhabdomyosarcoma - pathology
rhabdomyosarcomatous differentiation
Ribonucleic acid
RNA
Skin cancer
Skin Neoplasms - complications
Skin Neoplasms - genetics
Skin Neoplasms - pathology
small‐cell melanoma
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Summary: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.
ISSN:1755-1471
1755-148X
DOI:10.1111/pcmr.12785