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非转移性皮肤黑色素瘤患者 BRAF V600E 突变的临床和预后意义。

Clinical and prognostic significance of BRAF V600E mutation in non-metastatic cutaneous melanoma patients.

机构信息

Department of Medical Oncology, Institute of Oncology, University of Istanbul, Istanbul, Turkey.

出版信息

Neoplasma. 2019 Jul 23;66(4):631-636. doi: 10.4149/neo_2018_181006N740. Epub 2019 Apr 24.

DOI:10.4149/neo_2018_181006N740
PMID:31058533
Abstract

Because of the conflicting conclusions on BRAF mutations in the natural course of non-metastatic melanoma their prognostic significance is still controversial. The present study aims to assess the prevalence and prognostic significance of BRAF V600E mutation and apprehend its association with clinicopathologic features in stage I to III Turkish melanoma patients. A total of 93 adult stages I to III cutaneous primary melanoma patients were included in the study. BRAF V600E mutation was detected using the Real Time PCR. Median age was 52 years (range, 18 to 84) and 68.8% of the patients were men. Overall, BRAF V600E mutation was detected in 46.2% (43/93) of the patients. In stages I and II, trunk was the most frequently affected localization (47.1%) (p=0.05) and regression was found more prevalent in BRAF-mutant patients (38.5%) (p=0.05). Furthermore, males were predominant among stage III BRAF-mutant patients (80.8%) (p=0.05), and both superficially spreading histology subtype (45.0%) (p=0.05) and lower mitotic rate (36.4%) (p=0.02) also were more commonly associated with stage III BRAF-mutant patients. A significantly favorable relapse free survival was found in stage III node-positive BRAF-mutant patients (p=0.02), on the other hand BRAF status was not found to be associated with relapse free survival in stage I and stage II patients (p=0.3). Moreover, there was no overall survival association between stages and BRAF status (p=0.1 and p=0.2). In conclusion, there is no prognostic value of BRAF V600E mutation on overall survival in stage I-III melanoma patients, yet its presence might indicate a decreased risk for development of relapse and/or metastasis in stage III melanoma patients.

摘要

由于 BRAF 突变在非转移性黑色素瘤自然病程中的结论相互矛盾,其预后意义仍存在争议。本研究旨在评估 BRAF V600E 突变在土耳其 I 期至 III 期黑色素瘤患者中的流行率和预后意义,并了解其与临床病理特征的关系。本研究共纳入 93 例 I 期至 III 期皮肤原发性黑色素瘤成年患者。使用实时 PCR 检测 BRAF V600E 突变。中位年龄为 52 岁(范围 18 至 84 岁),68.8%的患者为男性。总体而言,46.2%(43/93)的患者检测到 BRAF V600E 突变。在 I 期和 II 期,躯干是最常见的受累部位(47.1%)(p=0.05),并且在 BRAF 突变患者中发现退行性变更为常见(38.5%)(p=0.05)。此外,III 期 BRAF 突变患者中男性居多(80.8%)(p=0.05),且组织学亚型为浅表扩散型(45.0%)(p=0.05)和较低的有丝分裂率(36.4%)(p=0.02)也与 III 期 BRAF 突变患者更为相关。III 期淋巴结阳性 BRAF 突变患者的无复发生存率显著较好(p=0.02),而 BRAF 状态与 I 期和 II 期患者的无复发生存率无关(p=0.3)。此外,各期之间以及 BRAF 状态与总生存之间均无相关性(p=0.1 和 p=0.2)。总之,BRAF V600E 突变对 I 期至 III 期黑色素瘤患者的总生存无预后价值,但存在 BRAF 突变可能表明 III 期黑色素瘤患者发生复发和/或转移的风险降低。

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