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甲状腺乳头状癌中 BRAF(V600E) 突变与既定预后因素的关系。

The relationship of the BRAF(V600E) mutation and the established prognostic factors in papillary thyroid carcinomas.

机构信息

Department of Pathology, Gülhane Military Medical Academy and School of Medicine, Ankara, Turkey.

出版信息

Endocr Pathol. 2012 Sep;23(3):135-40. doi: 10.1007/s12022-012-9218-7.

Abstract

It has been shown that BRAF(V600E) mutation in papillary thyroid carcinomas (PTC) is associated both with pathogenesis and poor prognosis. In this study, we aimed to investigate the relationship of the BRAF(V600E) mutation and the established prognostic factors in a cohort of Turkish patients with PTC. Forty-six cases of papillary thyroid carcinoma have been evaluated for the presence of BRAF(V600E) mutation. BRAF(V600E) has been examined by restriction fragment length polymorphism. BRAF(V600E) mutation status has been compared with well-known histopathological and clinical prognostic parameters such as invasion of thyroid capsule, extrathyroidal extension, and the presence of lymph node and/or distant metastasis. We have found that BRAF(V600E) mutation was present in the majority of our cases (40/46). Considering the stage of the disease, five of the negative cases were in stage 1 while the remaining one was in stage 2. Only one BRAF(V600E) negative case has shown extrathyroidal extension and lymph node metastasis. All four patients with distant metastasis had BRAF(V600E) mutation. Statistical analyses revealed that there are no significant relationship between the BRAF(V600E) mutation and the established prognostic factors. We found a relatively higher BRAF(V600E) mutation rate in classical type PTC than in other similar studies. We think that the limited number of our cases may either weaken or mask some potentially important relationship between BRAF(V600E) mutation and the established prognostic factors.

摘要

已经表明,甲状腺乳头状癌(PTC)中的 BRAF(V600E)突变与发病机制和预后不良都有关。在这项研究中,我们旨在调查土耳其 PTC 患者队列中 BRAF(V600E)突变与既定预后因素之间的关系。 评估了 46 例甲状腺乳头状癌是否存在 BRAF(V600E)突变。 通过限制片段长度多态性检查 BRAF(V600E)突变。 将 BRAF(V600E)突变状态与已知的组织病理学和临床预后参数(如甲状腺包膜侵犯、甲状腺外延伸以及淋巴结和/或远处转移的存在)进行比较。 我们发现,我们的大多数病例(40/46)存在 BRAF(V600E)突变。 考虑到疾病的阶段,5 例阴性病例处于 1 期,而其余 1 例处于 2 期。 只有 1 例 BRAF(V600E)阴性病例出现甲状腺外延伸和淋巴结转移。 所有 4 例远处转移的患者均存在 BRAF(V600E)突变。 统计分析显示,BRAF(V600E)突变与既定预后因素之间没有显著关系。 我们发现经典型 PTC 中的 BRAF(V600E)突变率相对较高,高于其他类似研究。 我们认为我们的病例数量有限,这可能会削弱或掩盖 BRAF(V600E)突变与既定预后因素之间一些潜在的重要关系。

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