Clinicopathologic findings and BRAF mutation in cutaneous melanoma in young adults.

Bruna Estrozi, Juliana Machado, Rubens Rodriguez, Carlos E Bacchi
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引用次数: 11

Abstract

Cutaneous melanoma in young patients is rare with increasing incidence. It is not clear whether the etiology and clinical outcome are similar to cutaneous melanoma in the elderly. Mutations in BRAF gene in patients with cutaneous melanoma, in general, range in frequency from 20% to 80%; however, the status and clinical significance of BRAF mutations in the young population have not been evaluated. We investigated 132 cases of primary cutaneous melanoma in patients aged between 18 and 30 years with emphasis on clinical characteristics, pathologic features, and molecular evaluation of mutation in the BRAF gene (BRAF(V600E)). It was predominantly seen in female individuals (61.4%), trunk was the most common site of involvement (40.4%), and superficially spreading melanoma was the predominant histologic type (79.5%). Mutation in BRAF(V600E) was analyzed successfully in 93 cases using an RT-PCR. The BRAF(V600E) mutation was identified in 38.7% (36/93) and was associated with vertical growth phase (P=0.01) and mild inflammatory infiltrate (P=0.02). No case of melanoma with regression phenomenon presented with BRAF(V600E) mutation (P<0.05). There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus. As in melanomas in older patients, these results probably indicate that BRAF mutation may not be the only key factor in melanoma tumorigenesis, and that there should be multiple alternative genetic pathways related to melanoma.

青壮年皮肤黑色素瘤的临床病理表现和BRAF突变
皮肤黑色素瘤在年轻患者是罕见的,发病率增加。目前尚不清楚其病因和临床结果是否与老年皮肤黑色素瘤相似。皮肤黑色素瘤患者BRAF基因突变的频率一般在20%到80%之间;然而,BRAF突变在年轻人群中的地位和临床意义尚未得到评估。我们调查了132例年龄在18 - 30岁之间的原发性皮肤黑色素瘤患者,重点研究BRAF基因突变的临床特征、病理特征和分子评估(BRAF(V600E))。主要见于女性(61.4%),躯干是最常见的受累部位(40.4%),浅表扩散黑色素瘤是主要的组织学类型(79.5%)。应用RT-PCR成功分析了93例BRAF(V600E)突变。BRAF(V600E)突变占38.7%(36/93),与垂直生长期(P=0.01)和轻度炎症浸润(P=0.02)相关。BRAF(V600E)突变无黑色素瘤消退现象(P
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