Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma

SeongRyeol Moon; Hee Joo Kim; Yeeun Lee; Yu Joo Lee; Sungwon Jung; Jin Sook Lee; Si Houn Hahn; Kyungdoc Kim; Joo Young Roh; Seungyoon Nam

doi:10.1016/j.compbiomed.2023.106602

Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma

Comput Biol Med. 2023 Mar:154:106602. doi: 10.1016/j.compbiomed.2023.106602. Epub 2023 Jan 24.

Authors

SeongRyeol Moon¹, Hee Joo Kim², Yeeun Lee¹, Yu Joo Lee³, Sungwon Jung³, Jin Sook Lee⁴, Si Houn Hahn⁵, Kyungdoc Kim⁶, Joo Young Roh⁷, Seungyoon Nam⁸

Affiliations

¹ Department of Health Sciences and Technology, Gachon Advanced Institute for Health Sciences and Technology, Gachon University, Incheon, 21999, South Korea.
² Department of Dermatology, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, South Korea.
³ Department of Genome Medicine and Science, Gachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, South Korea.
⁴ Department of Genome Medicine and Science, Gachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, South Korea; Department of Pediatrics, Seoul National University Hospital Child Cancer and Rare Disease Administration, Seoul National University Children's Hospital, Seoul, 03080, South Korea.
⁵ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA.
⁶ VUNO Inc., Seoul, 06536, South Korea.
⁷ Department of Dermatology, Ewha Womans University College of Medicine, Seoul Hospital, Seoul, 07804, South Korea. Electronic address: [email protected].
⁸ Department of Health Sciences and Technology, Gachon Advanced Institute for Health Sciences and Technology, Gachon University, Incheon, 21999, South Korea; Department of Genome Medicine and Science, Gachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, South Korea; AI Convergence Center for Medical Science, Gachon University College of Medicine, Incheon, 21565, South Korea. Electronic address: [email protected].

PMID: 36716688
DOI: 10.1016/j.compbiomed.2023.106602

Abstract

Acral melanoma (AM), a rare subtype of cutaneous melanoma, shows higher incidence in Asians, including Koreans, than in Caucasians. However, the genetic modification associated with AM in Koreans is not well known and has not been comprehensively investigated in terms of oncogenic signaling, and hallmarks of cancer. We performed whole-exome and RNA sequencing for Korean patients with AM and acquired the genetic alterations and gene expression profiles. KIT alterations (previously known to be recurrent alterations in AM) and CDK4/CCND1 copy number amplifications were identified in the patients. Genetic and transcriptomic alterations in patients with AM were functionally converge to the hallmarks of cancer and oncogenic pathways, including 'proliferative signal persistence', 'apoptotic resistance', and 'activation of invasion and metastasis', despite the heterogeneous somatic mutation profiles of Korean patients with AM. This study may provide a molecular understanding for therapeutic strategy for AM.

Keywords: Acral melanoma; RNA-Seq; Signaling pathways; Whole exome sequencing.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Melanoma* / genetics
Melanoma* / metabolism
Melanoma, Cutaneous Malignant
Mutation / genetics
Republic of Korea
Signal Transduction / genetics
Skin Neoplasms* / genetics