The genetic evolution of acral melanoma

Meng Wang, Satoshi Fukushima, Yi-Shuan Sheen, Egle Ramelyte, Noel Cruz-Pacheco, Chenxu Shi, Shanshan Liu, Ishani Banik, Jamie D. Aquino, Martin Sangueza Acosta, Mitchell Levesque, Reinhard Dummer, Jau-Yu Liau, Chia-Yu Chu, A. Hunter Shain, Iwei Yeh and Boris C. Bastian ()
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Meng Wang: University of California San Francisco
Satoshi Fukushima: Kumamoto University
Yi-Shuan Sheen: National Taiwan University Hospital and National Taiwan University College of Medicine
Egle Ramelyte: University of Zurich
Noel Cruz-Pacheco: University of California San Francisco
Chenxu Shi: University of California San Francisco
Shanshan Liu: University of California San Francisco
Ishani Banik: University of California San Francisco
Jamie D. Aquino: University of California San Francisco
Martin Sangueza Acosta: Caja Nacional de Salud
Mitchell Levesque: University of Zurich
Reinhard Dummer: University of Zurich
Jau-Yu Liau: National Taiwan University Hospital and National Taiwan University College of Medicine
Chia-Yu Chu: National Taiwan University Hospital and National Taiwan University College of Medicine
A. Hunter Shain: University of California San Francisco
Iwei Yeh: University of California San Francisco
Boris C. Bastian: University of California San Francisco

Nature Communications, 2024, vol. 15, issue 1, 1-13

Abstract: Abstract Acral melanoma is an aggressive type of melanoma with unknown origins. It is the most common type of melanoma in individuals with dark skin and is notoriously challenging to treat. We examine exome sequencing data of 139 tissue samples, spanning different progression stages, from 37 patients. We find that 78.4% of the melanomas display clustered copy number transitions with focal amplifications, recurring predominantly on chromosomes 5, 11, 12, and 22. These complex genomic aberrations are typically shared across all progression stages of individual patients. TERT activating alterations also arise early, whereas MAP-kinase pathway mutations appear later, an inverted order compared to the canonical evolution. The punctuated formation of complex aberrations and early TERT activation suggest a unique mutational mechanism that initiates acral melanoma. The marked intratumoral heterogeneity, especially concerning MAP-kinase pathway mutations, may partly explain the limited success of therapies for this melanoma subtype.

Date: 2024
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DOI: 10.1038/s41467-024-50233-z

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