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BRAF突变的类型和发生率与甲状腺乳头状癌的组织类型及患者年龄密切相关,但与肿瘤侵袭性无关。

Type and prevalence of BRAF mutations are closely associated with papillary thyroid carcinoma histotype and patients' age but not with tumour aggressiveness.

作者信息

Trovisco Vítor, Soares Paula, Preto Ana, de Castro Inês Vieira, Lima Jorge, Castro Patrícia, Máximo Valdemar, Botelho Tiago, Moreira Severina, Meireles Ana Margarida, Magalhães João, Abrosimov Alexander, Cameselle-Teijeiro José, Sobrinho-Simões Manuel

机构信息

IPATIMUP (Institute of Molecular Pathology and Immunology of the University of Porto), R. Roberto Frias s/n, 4200, Porto, Portugal.

出版信息

Virchows Arch. 2005 Jun;446(6):589-95. doi: 10.1007/s00428-005-1236-0. Epub 2005 May 19.

Abstract

A high prevalence of the BRAF(V600E) somatic mutation was recently reported in several series of papillary thyroid carcinomas (PTC). This mutation appears to be particularly prevalent in PTC with a predominantly papillary architecture. Another BRAF mutation (K601E) was detected in a follicular adenoma and in some cases of the follicular variant of PTC. The few studies on record provided controversial data on the relationship between the occurrence of BRAF mutations and clinicopathologic parameters such as gender, age and tumour staging. In an attempt to clarify such controversies we decided to enlarge our previous series to 315 tumours or tumour-like lesions diagnosed in 280 patients, including a thorough analysis of several clinicopathologic features. The BRAF(V600E) mutation was exclusively detected in PTC with a papillary or mixed follicular/papillary architecture both of the conventional type (46%) and of other histotypes, such as microcarcinoma (43%), Warthin-like PTC (75%) and oncocytic variant of PTC (55%). The BRAF(K601E) mutation was detected in four of the 54 cases of the follicular variant of PTC (7%). The mean age of patients with conventional PTC harbouring BRAF(V600E) (46.7 years) was significantly higher (P<0.0001) than that of patients with conventional PTC without BRAF(V600E) (29.5 years). The BRAF (BRAF(V600E)) mutated PTC did not exhibit signs of higher aggressiveness (size, vascular invasion, extra-thyroid extension and nodal metastasis) and were in fact less often multicentric than PTC without the mutation.

摘要

最近在几系列甲状腺乳头状癌(PTC)中报道了BRAF(V600E)体细胞突变的高发生率。这种突变似乎在主要为乳头状结构的PTC中特别普遍。在滤泡性腺瘤和一些PTC滤泡变体病例中检测到另一种BRAF突变(K601E)。现有少数研究提供了关于BRAF突变的发生与临床病理参数(如性别、年龄和肿瘤分期)之间关系的有争议数据。为了澄清这些争议,我们决定将之前的病例系列扩大到280例患者诊断出的315个肿瘤或肿瘤样病变,包括对几个临床病理特征的全面分析。BRAF(V600E)突变仅在具有乳头状或滤泡/乳头状混合结构的PTC中检测到,包括传统类型(46%)和其他组织学类型,如微小癌(43%)、Warthin样PTC(75%)和PTC嗜酸细胞变体(55%)。在54例PTC滤泡变体病例中有4例(7%)检测到BRAF(K601E)突变。携带BRAF(V600E)的传统PTC患者的平均年龄(46.7岁)显著高于(P<0.0001)不携带BRAF(V600E)的传统PTC患者(29.5岁)。BRAF(BRAF(V600E))突变的PTC没有表现出更高侵袭性的迹象(大小、血管侵犯、甲状腺外扩展和淋巴结转移),事实上与未发生突变的PTC相比,多中心性的情况更少。

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