Details

Autor(en) / Beteiligte

• Perkins, Ifeoma U.
• Tan, Serena Y.
• McCalmont, Timothy H.
• Chou, Pauline M.
• Mully, Thaddeus W.
• Gerami, Pedram
• Pomerantz, Jason H.
• Reyes‐Múgica, Miguel
• Balkin, Daniel M.
• Kruse, Lacey L.
• Huang, Benjamin
• Reichek, Jennifer L.
• Gangopadhyay, Noopur
• Chiosea, Simon
• Green, Jared R.
• Chamlin, Sarah L.
• Frieden, Ilona J.
• Bastian, Boris C.
• Yeh, Iwei

Titel

Melanoma in infants, caused by a gene fusion involving the anaplastic lymphoma kinase (ALK)

Ist Teil von

• Pigment cell and melanoma research, 2024-01, Vol.37 (1), p.6-14

Ort / Verlag

England: Wiley Subscription Services, Inc

Erscheinungsjahr

2024

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• We describe the first cases of pediatric melanoma with ALK fusion gene arising within giant congenital melanocytic nevi. Two newborn boys presented with large pigmented nodular plaques and numerous smaller satellite nevi. Additional expansile nodules developed within both nevi and invasive melanomas were diagnosed before 10 months of age in both boys. Oncogenic driver mutations in NRAS and BRAF were absent in both cases. Instead, oncogenic ZEB2::ALK fusion genes were identified in both the nevus and melanoma developing within the nevus. In both cases, tumors were noted by ultrasound in utero, demonstrated significant nodularity at birth, and progressed to melanoma in the first year of life suggesting that congenital nevi with ALK fusion genes may behave more aggressively than those with other mutations. As ALK kinase inhibitors are effective against a range of tumors with similar ALK fusion kinases, identifying ALK fusion genes in congenital melanocytic nevi may provide an opportunity for targeted therapy. Giant congenital melanocytic nevus with multiple proliferative nodules. This patient developed melanoma within the melanocytic nevus within the first year of life. The nevus, proliferative nodule and melanoma all harbored ZEB2::ALK fusion genes with copy number aberrations accumulating during progression.