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发育异常痣、恶性雀斑样痣及原位黑色素瘤中BRAF突变的频率

Frequency of BRAF Mutations in Dysplastic Nevi, Lentigo Maligna, and Melanoma In Situ.

作者信息

Prkačin Ivana, Šamija Ivan, Filipović Nika, Vucić Matej, Vučić Majda, Ferara Nikola, Šitum Mirna

机构信息

Department of Dermatovenereology, Sestre Milosrdnice University Hospital Center, HR-10000 Zagreb, Croatia.

Department of Oncology and Nuclear Medicine, Sestre Milosrdnice University Hospital Center, HR-10000 Zagreb, Croatia.

出版信息

J Clin Med. 2024 Aug 15;13(16):4799. doi: 10.3390/jcm13164799.

Abstract

In melanomas, mutations in the BRAF gene are common and their occurrence represents an early oncogenic event. Our goal was to determine and compare the frequency of BRAF gene mutations in dysplastic nevi (ND) and melanomas in situ (MIS), as well as whether there is a correlation between the presence of BRAF gene mutations and various anamnestic, clinical, and histopathologic variables. : A total of 175 patients-106 with ND, 41 with MIS, and 28 with lentigo maligna (LM) were included in the study. DNA was extracted from tissue samples and analyzed using the competitive allele-specific TaqMan chain reaction by polymerase in real time to detect the presence of BRAF V600E and V600K mutations. The data were compared with anamnestic, clinical, and histopathological data. : There is a statistically significant correlation between the presence of BRAF mutation and the diagnosis of melanoma in situ (χ test, χ = 29.17, < 0.0001). Patients with LM had a significantly lower incidence of BRAF mutations compared to patients with ND and MIS. There was a significant correlation between the presence of a BRAF mutation and tumor localization, as well as the age of the patient, but no statistically significant correlation between the presence of a BRAF mutation and sex, tumor size, or previous melanoma diagnosis. : BRAF mutations in ND are essentially required; however, they are an insufficient oncogenic trigger for the development of melanoma. This research contributes to a better understanding of the etiopathogenesis of melanoma and the role of ND as possible precursor lesions.

摘要

在黑色素瘤中,BRAF基因突变很常见,其出现代表了早期致癌事件。我们的目标是确定并比较发育异常痣(ND)和原位黑色素瘤(MIS)中BRAF基因突变的频率,以及BRAF基因突变的存在与各种既往史、临床和组织病理学变量之间是否存在相关性。:本研究共纳入175例患者,其中106例患有ND,41例患有MIS,28例患有恶性雀斑样痣(LM)。从组织样本中提取DNA,并使用竞争性等位基因特异性TaqMan实时聚合酶链反应进行分析,以检测BRAF V600E和V600K突变的存在。将数据与既往史、临床和组织病理学数据进行比较。:BRAF突变的存在与原位黑色素瘤的诊断之间存在统计学显著相关性(χ检验,χ = 29.17,< 0.0001)。与患有ND和MIS的患者相比,患有LM的患者BRAF突变的发生率显著较低。BRAF突变的存在与肿瘤定位以及患者年龄之间存在显著相关性,但BRAF突变的存在与性别、肿瘤大小或既往黑色素瘤诊断之间无统计学显著相关性。:ND中BRAF突变基本上是必需的;然而,它们是黑色素瘤发生发展的不足致癌触发因素。这项研究有助于更好地理解黑色素瘤的病因发病机制以及ND作为可能前驱病变的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7569/11355897/2c57a7fea350/jcm-13-04799-g001.jpg

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