Kinase gene fusions in defined subsets of melanoma

Jacqueline Turner, Kasey Couts, Jamie Sheren, Siriwimon Saichaemchan, Witthawat Ariyawutyakorn, Izabela Avolio, Ethan Cabral, Magdelena Glogowska, Carol Amato, Steven Robinson, Jennifer Hintzsche, Allison Applegate, Eric Seelenfreund, Rita Gonzalez, Keith Wells, Stacey Bagby, John Tentler, Aik Choon Tan, Joshua Wisell, Marileila Varella-GarciaWilliam Robinson

Research output: Contribution to journalArticlepeer-review

38 Citations (Scopus)


Genomic rearrangements resulting in activating kinase fusions have been increasingly described in a number of cancers including malignant melanoma, but their frequency in specific melanoma subtypes has not been reported. We used break-apart fluorescence in situ hybridization (FISH) to identify genomic rearrangements in tissues from 59 patients with various types of malignant melanoma including acral lentiginous, mucosal, superficial spreading, and nodular. We identified four genomic rearrangements involving the genes BRAF, RET, and ROS1. Of these, three were confirmed by Immunohistochemistry (IHC) or sequencing and one was found to be an ARMC10-BRAF fusion that has not been previously reported in melanoma. These fusions occurred in different subtypes of melanoma but all in tumors lacking known driver mutations. Our data suggest gene fusions are more common than previously thought and should be further explored particularly in melanomas lacking known driver mutations.

Original languageEnglish
Pages (from-to)53-62
Number of pages10
JournalPigment Cell and Melanoma Research
Issue number1
Publication statusPublished - 2017 Jan 1

Bibliographical note

Funding Information:
We wish to acknowledge the UCD Research Histology Shared Resource. We thank Dr. Theresa A. Boyle and Kim E. Ellison for assisting with immunohistochemistry.

Publisher Copyright:
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd


  • acral
  • kinase
  • melanoma
  • pan-negative
  • rearrangement

ASJC Scopus subject areas

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


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