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Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion
Author(s) -
Baltres Aline,
Salhi Aicha,
Houlier Aurelie,
Pissaloux Daniel,
Tirode Franck,
Haddad Véronique,
Karanian Marie,
YsmailDahlouk Salim,
Boukendakdji Fatma,
Dahlouk Djazia,
Allaoua Fateh,
Metref Marzak,
Djeridane Assya,
Fraitag Sylvie,
de la Fouchardière Arnaud
Publication year - 2019
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12785
Subject(s) - neuroblastoma ras viral oncogene homolog , pathology , malignant transformation , nevus , blue nevus , melanoma , fusion gene , biology , congenital melanocytic nevus , medicine , mutation , gene , cancer research , genetics , kras
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.