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  • Title: Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion.
    Author: Baltres A, Salhi A, Houlier A, Pissaloux D, Tirode F, Haddad V, Karanian M, Ysmail-Dahlouk S, Boukendakdji F, Dahlouk D, Allaoua F, Metref M, Djeridane A, Fraitag S, de la Fouchardière A.
    Journal: Pigment Cell Melanoma Res; 2019 Sep; 32(5):708-713. PubMed ID: 30945443.
    Abstract:
    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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