Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

被引：42

作者：

Puig-Butille, Joan A. ^{[1
,2
,3
]}

Badenas, Celia ^{[1
,2
,3
]}

Ogbah, Zighereda ^{[3
,4
]}

Carrera, Cristina ^{[1
,3
,4
]}

Aguilera, Paula ^{[1
,3
,4
]}

Malvehy, Josep ^{[1
,3
,4
]}

Puig, Susana ^{[1
,3
,4
]}

机构：

[1] ISCIII, Ctr Invest Biomed Enfermedades Raras CIBERER, Barcelona, Spain

[2] Hosp Clin Barcelona, Biochem & Mol Genet Serv, Melanoma Unit, E-08036 Barcelona, Spain

[3] IDIBAPS Inst Invest Biomed August Pi & Sunyer, Barcelona, Spain

[4] Hosp Clin Barcelona, Dept Dermatol, Melanoma Unit, E-08036 Barcelona, Spain

来源：

EXPERIMENTAL DERMATOLOGY | 2013年 / 22卷 / 02期

关键词：

acral lentiginous melanoma; AURKA; melanoma; MLPA; NRAS; MALIGNANT-MELANOMA; MELANOCYTIC TUMORS; SIGNALING PATHWAY; DISTINCT SUBTYPES; ACTIVATION; MUTATIONS; HETEROZYGOSITY; AMPLIFICATION; REFINE; LOCUS;

D O I：

10.1111/exd.12080

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS-related pathways are present in 87.5% of acral lentiginous melanomas.

引用

页码：148 / 150

页数：3

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