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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)6-14
Number of pages9
JournalPigment Cell and Melanoma Research
Issue number1
StatePublished - Jan 2024


  • ZEB2::ALK rearrangements
  • alk fusion genes
  • alk kinase inhibitors
  • giant congenital melanocytic nevi
  • pediatric melanoma

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology
  • Dermatology
  • Oncology


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