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Genetic Alterations among Korean Melanoma Patients Showing Tumor Heterogeneity: A Comparison between Primary Tumors and Corresponding Metastatic Lesions.
- Source :
-
Cancer research and treatment [Cancer Res Treat] 2018 Oct; Vol. 50 (4), pp. 1378-1387. Date of Electronic Publication: 2018 Jan 22. - Publication Year :
- 2018
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Abstract
- Purpose: Melanoma is a highly heterogeneous neoplasm, composed of subpopulations of tumor cells with distinct molecular and biological phenotypes and genotypes. In this study, to determine the genetic heterogeneity between primary and metastatic melanoma in Korean melanoma patients, we evaluated several well-known genetic alterations of melanoma. In addition, to elucidate the clinical relevance of each genetic alteration and heterogeneity between primary and metastatic lesions, clinical features and patient outcome were collected.<br />Materials and Methods: In addition to clinical data, BRAF, NRAS, GNAQ/11 mutation and KIT amplification data was acquired from an archived primary Korean melanoma cohort (KMC) of 188 patients. Among these patients, 43 patients were included for investigation of tumor heterogeneity between primary melanoma and its corresponding metastatic lesions.<br />Results: Overall incidence of genetic aberrations of the primary melanomas in KMC was 17.6% of BRAF V600, 12.6% of NRAS mutation, and 28.6% of KIT amplification. GNAQ/11 mutation was seen in 66.6% of the uveal melanoma patients. Patients with BRAF mutation were associated with advanced stage and correlated to poor prognosis (p < 0.01). Among 43 patients, 55.8% showed heterogeneity between primary and metastatic lesion. The frequency of BRAF mutation and KIT amplification significantly increased in the metastatic lesions compared to primary melanomas. <GNAQ/11 mutation showed 100% homogeneity in uveal melanoma patients.<br />Conclusion: Our data demonstrated heterogeneity between primary melanomas and corresponding metastatic lesions for BRAF, NRAS mutation and KIT amplification. However, GNAQ/11 mutation was genetically homogeneous between primary and metastatic melanoma lesions in uveal melanoma.
- Subjects :
- Adult
Aged
Aged, 80 and over
Cohort Studies
Female
GTP Phosphohydrolases genetics
GTP-Binding Protein alpha Subunits, Gq-G11 genetics
Gene Amplification
Humans
Male
Membrane Proteins genetics
Middle Aged
Mutation
Proto-Oncogene Proteins B-raf genetics
Proto-Oncogene Proteins c-kit genetics
Republic of Korea
Young Adult
Asian People genetics
DNA Mutational Analysis methods
Genetic Heterogeneity
Melanoma genetics
Neoplasm Metastasis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2005-9256
- Volume :
- 50
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Cancer research and treatment
- Publication Type :
- Academic Journal
- Accession number :
- 29361821
- Full Text :
- https://doi.org/10.4143/crt.2017.535