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首页> 外文期刊>Applied immunohistochemistry and molecular morphology: AIMM >Clinicopathologic findings and braf mutation in cutaneous melanoma in young adults
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Clinicopathologic findings and braf mutation in cutaneous melanoma in young adults

机译:年轻人皮肤黑色素瘤的临床病理发现和braf突变

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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 (BRAFV600E). 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 BRAFV600E was analyzed successfully in 93 cases using an RTPCR. The BRAFV600E 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 BRAFV600E mutation (P0.05). There was no significant association between BRAFV600E 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.
机译:年轻患者的皮肤黑色素瘤很少见,且发病率增加。目前尚不清楚病因和临床结果是否与老年人皮肤黑色素瘤相似。皮肤黑色素瘤患者的BRAF基因突变的频率范围通常为20%至80%;但是,尚未评估年轻人群中BRAF突变的状态和临床意义。我们调查了18到30岁之间的132例原发性皮肤黑色素瘤患者,重点研究了BRAF基因(BRAFV600E)突变的临床特征,病理特征和分子评估。主要见于女性(61.4%),躯干是最常见的受累部位(40.4%),浅表黑色素瘤是主要的组织学类型(79.5%)。使用RTPCR成功分析了93例BRAFV600E中的突变。 BRAFV600E突变的检出率为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。无BRAFV600E突变的黑色素瘤出现退化现象(P0.05)。 BRAFV600E突变与性别,组织学类型,克拉克水平,Breslow指数,日光弹性病,血管淋巴和神经周围的浸润,腹膜炎和共存痣之间无显着相关性。与老年患者的黑色素瘤一样,这些结果可能表明BRAF突变可能不是黑色素瘤肿瘤发生的唯一关键因素,并且应该有与黑色素瘤相关的多种遗传途径。

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