Genomic landscapes of acral melanomas in East Asia

John Wen Cheng Chang; Jia Juan Hsieh; Chiao En Wu; Abner Herbert Lim; Cedric Chuan Young Ng; Bin Tean Teh; Jason Yongsheng Chan

doi:10.21873/CGP.20243

Genomic landscapes of acral melanomas in East Asia

John Wen Cheng Chang^*, Jia Juan Hsieh, Chiao En Wu, Abner Herbert Lim, Cedric Chuan Young Ng, Bin Tean Teh, Jason Yongsheng Chan^*

^*Corresponding author for this work

School of Medicine

Research output: Contribution to journal › Journal Article › peer-review

7 Scopus citations

Abstract

Background/Aim: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM. Patients and Methods: Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM. Results: We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients. Conclusion: The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease.

Original language	English
Pages (from-to)	83-92
Number of pages	10
Journal	Cancer Genomics and Proteomics
Volume	18
Issue number	1
DOIs	https://doi.org/10.21873/CGP.20243
State	Published - 01 2021

Bibliographical note

Publisher Copyright:
© 2021 International Institute of Anticancer Research. All rights reserved.

Keywords

Genomics
Precision oncology
Rare cancers
Targeted therapy

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.21873/CGP.20243

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title = "Genomic landscapes of acral melanomas in East Asia",

abstract = "Background/Aim: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM. Patients and Methods: Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM. Results: We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients. Conclusion: The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease.",

keywords = "Genomics, Precision oncology, Rare cancers, Targeted therapy",

author = "Chang, {John Wen Cheng} and Hsieh, {Jia Juan} and Wu, {Chiao En} and Lim, {Abner Herbert} and Ng, {Cedric Chuan Young} and Teh, {Bin Tean} and Chan, {Jason Yongsheng}",

year = "2021",

month = jan,

doi = "10.21873/CGP.20243",

language = "英语",

volume = "18",

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journal = "Cancer Genomics and Proteomics",

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publisher = "International Institute of Anticancer Research",

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T1 - Genomic landscapes of acral melanomas in East Asia

AU - Chang, John Wen Cheng

AU - Hsieh, Jia Juan

AU - Wu, Chiao En

AU - Lim, Abner Herbert

AU - Ng, Cedric Chuan Young

AU - Teh, Bin Tean

AU - Chan, Jason Yongsheng

PY - 2021/1

Y1 - 2021/1

N2 - Background/Aim: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM. Patients and Methods: Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM. Results: We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients. Conclusion: The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease.

AB - Background/Aim: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM. Patients and Methods: Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM. Results: We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients. Conclusion: The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease.

KW - Genomics

KW - Precision oncology

KW - Rare cancers

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M3 - 文章

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JO - Cancer Genomics and Proteomics

JF - Cancer Genomics and Proteomics

IS - 1

ER -

Genomic landscapes of acral melanomas in East Asia

Abstract

Bibliographical note

Keywords

UN SDGs

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