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

Pigment Cell Melanoma Res 2019 Sep 21;32(5):708-713. Epub 2019 Apr 21.

Department of Biopathology, Centre Léon Bérard, Lyon, France.

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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http://dx.doi.org/10.1111/pcmr.12785DOI Listing
September 2019
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References

(Supplied by CrossRef)
Rhabdomyosarcoma arising in a giant congenital melanocytic nevus
Christman M. P. et al.
Pediatric Dermatology 2014

Elder D. et al.
2018
Melanoma in congenital melanocytic naevi
Kinsler V. A. et al.
The British Journal of Dermatology 2017

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