Distinct clinical and pathological features are associated with the BRAF T1799A(V600E) mutation in primary melanoma
Distinct clinical and pathological features are associated with the BRAF T1799A(V600E) mutation in primary melanoma
复制标题
DOI：
10.1038/sj.jid.5700632
复制
发表时间：
2007-04-01
影响因子：
6.5
通讯作者：
McArthur, Grant A.
中科院分区：
文献类型：
--
作者：
Liu, Wendy;Kelly, John W.;McArthur, Grant A.
BRA(T1799A)突变编码BRAF(V600E)，导致丝裂原活化蛋白激酶途径的激活。本研究旨在探讨含有BRAF(T1799A)突变的原发性侵袭性黑色素瘤的临床病理特征。对来自澳大利亚的251例侵袭性原发黑色素瘤患者进行了访谈和检查，以了解他们的黑色素瘤特征和危险因素。进行独立的病理回顾、BRAF(T1799A)突变的等位基因特异性聚合酶链式反应、Ki67免疫组织化学染色和磷酸组蛋白-H3(PH3)检测。在112例(45%)的原发黑色素瘤中发现了胸罩Fall 799A突变。与BRAF(T1799A)突变(P<；0.05)相关的因素有：肿瘤厚度低(OR=33)；核分裂率低(OR=2.0)；Ki67评分低(OR=5.0)；PH3评分低(OR=3.3)；浅表性播散性黑色素瘤(OR-10.0)；色素性黑色素瘤(OR=3.7)；无日光性角化病史(OR=2.7)；躯干或四肢部位(OR 3.4)或四肢(OR=2.0)；儿童时期高水平日晒(OR=2.0)；
The BRA(T1799A) mutation encodes BRAF(V600E) that leads to activation of the mitogen-activated protein kinase pathway. This study aimed to assess the clinico-pathological features of primary invasive melanomas containing the BRAF(T1799A) mutation. Patients (n=251) with invasive primary melanomas from Australia were interviewed and examined with respect to their melanoma characteristics and risk factors. Independent review of pathology, allele-specific PCR for the BRAF(T1799A) mutation, immunohistochemical staining with Ki67, and phospho-histone-H3 (PH3) were performed. The BRA fall 799A mutation was found in 112 (45%) of the primary melanomas. Associations with the BRAF(T1799A) mutation (P < 0.05) were as follows: low tumor thickness (odds ratio (OR) =33); low mitotic rate (OR= 2.0); low Ki67 score (OR= 5.0); low PH3 score (OR= 3.3); superficial spreading melanoma (OR-10.0); pigmented melanoma (OR=3.7); a lack of history of solar keratoses (OR=2.7); a location on the trunk (OR 3.4) or extremity (OR=2.0); a high level of self-reported childhood sun exposure (OR=2.0);