BRAF V600 Mutation Profile of Metastatic Melanoma in the Thrace Region of Turkey.

N. Can, E. Taştekin, Tülin Deniz Yalta, N. Süt, Selma Korkmaz, U. Usta, Fulya Öz Puyan, Ezgi Genç, Mert Cezik, Busem Binboğa Tutuğ, Osman Köstek, H. Tozkır
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引用次数: 5

Abstract

OBJECTIVE BRAF is the most common mutation in melanoma. The most common subtype is BRAF V600E, followed by V600K. Initially, the authors aimed to investigate whether clinicopathological features of melanoma are associated with BRAF mutations. We then aimed to present the relationships between the clinicopathological features and the mutated subtype (V600E vs V600K). MATERIAL AND METHOD 61 patients with metastatic malignant melanoma (affecting the lymph node or other distant sites) were selected. Patient data regarding age at the time of diagnosis, sex, metastatic site (lymph node, distant metastasis or both) and primary tumour site were obtained from the hospital's database. Tissue samples containing at least 30% tumour cells were isolated from the specimens of 61 patients (24 samples from primary tumours and 37 from metastatic foci) for BRAF analysis. Comparisons between the BRAF V600 mutation and clinicopathological and histopathological features were performed. RESULTS BRAF V600 mutation was detected in 34 (55.7%) patients. The subtype was BRAF V600E in 22 (64.7%) patients, BRAF V600K in 11(32.4%) patients and BRAF V600R in 1(2.9%) patient. The crucial results of the present study may be summarized as follows: i) BRAF V600 mutation was more common in older patients and tumors with BRAF V600 mutation revealed necrosis and LVI more commonly than wild-type tumors, ii) BRAF V600K mutation was more common in older patients and BRAF V600K mutated tumors exhibited ulceration more commonly than tumors with BRAF V600E mutation (close to significant). CONCLUSION The BRAF V600 mutation may have interactions with prognostic clinicoptahological features of melanoma including necrosis and lymphovascular invasion. V600K mutation may be more common than expected and may have different associations with properties of the tumor such as tumor ulceration and patient age. Investigation of the mutated subtype of the BRAF gene may therefore reveal more detailed data about the management of melanoma and may also prevent missing of candidates for BRAF inhibitor therapies.
土耳其色雷斯地区转移性黑色素瘤BRAF V600突变谱
目的braf是黑色素瘤中最常见的突变。最常见的亚型是BRAF V600E,其次是V600K。最初,作者旨在研究黑色素瘤的临床病理特征是否与BRAF突变相关。然后,我们旨在介绍临床病理特征与突变亚型(V600E vs V600K)之间的关系。材料和方法选择61例转移性恶性黑色素瘤(影响淋巴结或其他远处部位)。患者诊断时的年龄、性别、转移部位(淋巴结、远处转移或两者都有)和原发肿瘤部位的数据从医院的数据库中获得。从61例患者(24例来自原发肿瘤,37例来自转移灶)的标本中分离出含有至少30%肿瘤细胞的组织样本,用于BRAF分析。将BRAF V600突变与临床病理和组织病理特征进行比较。结果braf V600突变34例(55.7%)。BRAF V600E亚型22例(64.7%),BRAF V600K亚型11例(32.4%),BRAF V600R亚型1例(2.9%)。本研究的关键结果可以概括为:i) BRAF V600突变在老年患者中更常见,BRAF V600突变的肿瘤比野生型肿瘤更容易出现坏死和LVI; ii) BRAF V600K突变在老年患者中更常见,BRAF V600K突变的肿瘤比BRAF V600E突变的肿瘤更容易出现溃疡(接近显著)。结论BRAF V600突变可能与黑色素瘤的预后临床病理学特征(包括坏死和淋巴血管侵袭)有相互作用。V600K突变可能比预期的更常见,并且可能与肿瘤的特性(如肿瘤溃疡和患者年龄)有不同的关联。因此,对BRAF基因突变亚型的研究可能会揭示有关黑色素瘤治疗的更详细的数据,也可能防止BRAF抑制剂治疗候选药物的缺失。
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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