Artikel ; Online: Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion.
Pigment cell & melanoma research
2019 Band 32, Heft 5, Seite(n) 708–713
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 ... ...
| 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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| Mesh-Begriff(e) | Cell Differentiation ; Child, Preschool ; Female ; Gene Fusion ; Humans ; Melanoma/complications ; Melanoma/genetics ; Melanoma/pathology ; Nevus, Pigmented/complications ; Nevus, Pigmented/genetics ; Nevus, Pigmented/pathology ; Proto-Oncogene Proteins c-raf/genetics ; Rhabdomyosarcoma/complications ; Rhabdomyosarcoma/genetics ; Rhabdomyosarcoma/pathology ; Skin Neoplasms/complications ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology | |||||
| Chemische Substanzen | Proto-Oncogene Proteins c-raf (EC 2.7.11.1) ; Raf1 protein, human (EC 2.7.11.1) | |||||
| Sprache | Englisch | |||||
| Erscheinungsdatum | 2019-04-21 | |||||
| Erscheinungsland | England | |||||
| Dokumenttyp | Case Reports | |||||
| ZDB-ID | 2409570-9 | |||||
| ISSN | 1755-148X ; 1600-0749 ; 0893-5785 ; 1755-1471 | |||||
| ISSN (online) | 1755-148X ; 1600-0749 | |||||
| ISSN | 0893-5785 ; 1755-1471 | |||||
| DOI | 10.1111/pcmr.12785 | |||||
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| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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