Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens.

IF 1.2 Q3 DERMATOLOGY
Journal of Skin Cancer Pub Date : 2013-01-01 Epub Date: 2013-10-13 DOI:10.1155/2013/469671
Ricardo Vieira, Maria José Simões, Susana Carmona, Conceição Egas, Carlos Faro, Américo Figueiredo
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引用次数: 0

Abstract

DLEC1 has been suggested as a tumor suppressor gene in several cancers. DLEC1 D215N somatic mutation (COSM36702) was identified in a melanoma cell line through whole genome sequencing. However, little is known about the implication and prevalence of this mutation in primary melanomas or in melanocytic nevi. The aim of this study was to genotype DLEC1 D215N mutation in melanoma tissue and melanocytic nevi samples to confirm its occurrence and to estimate its prevalence. Primary melanomas (n = 81) paired with synchronous or asynchronous metastases (n = 21) from 81 melanoma patients and melanocytic nevi (n = 28) were screened for DLEC1 D215N mutation. We found the mutation in 3 primary melanomas and in 2 melanocytic nevi, corresponding to a relatively low prevalence (3.7% and 7.1%, resp.). The pathogenic role of DLEC1 215N mutation is unclear. However, since the mutation has not been previously described in general population, its involvement in nevogenesis and melanoma progression remains a possibility to be clarified in future studies.

鉴定福尔马林固定石蜡包埋黑色素瘤和黑色素细胞痣标本中的 DLEC1 D215N 基因组突变
DLEC1 被认为是多种癌症的抑癌基因。通过全基因组测序,在一个黑色素瘤细胞系中发现了 DLEC1 D215N 体细胞突变(COSM36702)。然而,人们对这种突变在原发性黑色素瘤或黑色素细胞痣中的影响和发生率知之甚少。本研究的目的是对黑色素瘤组织和黑色素细胞痣样本中的DLEC1 D215N突变进行基因分型,以确认其发生率并估计其流行率。研究人员对81名黑色素瘤患者的原发性黑色素瘤(81例)、同步或非同步转移瘤(21例)以及黑色素细胞痣(28例)进行了DLEC1 D215N突变筛查。我们在 3 例原发性黑色素瘤和 2 例黑色素细胞痣中发现了这种突变,发生率相对较低(分别为 3.7% 和 7.1%)。DLEC1 215N 突变的致病作用尚不清楚。然而,由于该基因突变以前未在普通人群中出现过,其参与痣生成和黑色素瘤进展的可能性仍有待今后的研究加以澄清。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Skin Cancer
Journal of Skin Cancer DERMATOLOGY-
CiteScore
2.30
自引率
18.20%
发文量
12
审稿时长
21 weeks
期刊介绍: Journal of Skin Cancer is a peer-reviewed, Open Access journal that publishes clinical and translational research on the detection, diagnosis, prevention, and treatment of skin malignancies. The journal encourages the submission of original research articles, review articles, and clinical studies related to pathology, prognostic indicators and biomarkers, novel therapies, as well as drug sensitivity and resistance.
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