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

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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 Fouchardiere, Arnaud

Edité par CCSD ; Blackwell Munksgaard -

International audience. 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.

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