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Characterizations of Gene Alterations in Melanoma Patients from Chinese Population
Joint Authors
Luo, Yi
Zhang, Zhenzhen
Liu, Jianfan
Li, Linqing
Xu, Xuezheng
Yao, Xinyu
Dai, Zixun
Wang, Xin
Yang, Shuo
Wu, Hongwei
Bu, Jie
Wu, Yuan
Xiang, Tianmin
Li, Xianan
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-01-30
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Melanoma is a human skin malignant tumor with high invasion and poor prognosis.
The limited understanding of genomic alterations in melanomas in China impedes the diagnosis and therapeutic strategy selection.
We conducted comprehensive genomic profiling of melanomas from 39 primary and metastatic formalin-fixed paraffin-embedded (FFPE) samples from 27 patients in China based on an NGS panel of 223 genes.
No significant difference in gene alterations was found between primary and metastasis melanomas.
The status of germline mutation, CNV, and somatic mutation in our cohort was quite different from that reported in Western populations.
We further delineated the mutation patterns of 4 molecular subgroups (BRAF, RAS, NF1, and Triple-WT) of melanoma in our cohort.
BRAF mutations were more frequently identified in melanomas without chromic sun-induced damage (non-CSD), while RAS mutations were more likely observed in acral melanomas.
NF1 and Triple-WT subgroups were unbiased between melanomas arising in non-CSD and acral skin.
BRAF, RAS, and NF1 mutations were significantly associated with lymph node metastasis or presence of ulceration, implying that these cancer driver genes were independent prognostic factors.
In summary, our results suggest that mutational profiles of malignant melanomas in China are significantly different from Western countries, and both gene mutation and amplification play an important role in the development and progression of melanomas.
American Psychological Association (APA)
Luo, Yi& Zhang, Zhenzhen& Liu, Jianfan& Li, Linqing& Xu, Xuezheng& Yao, Xinyu…[et al.]. 2020. Characterizations of Gene Alterations in Melanoma Patients from Chinese Population. BioMed Research International،Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1135494
Modern Language Association (MLA)
Luo, Yi…[et al.]. Characterizations of Gene Alterations in Melanoma Patients from Chinese Population. BioMed Research International No. 2020 (2020), pp.1-8.
https://search.emarefa.net/detail/BIM-1135494
American Medical Association (AMA)
Luo, Yi& Zhang, Zhenzhen& Liu, Jianfan& Li, Linqing& Xu, Xuezheng& Yao, Xinyu…[et al.]. Characterizations of Gene Alterations in Melanoma Patients from Chinese Population. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1135494
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1135494