Genetic mutations in the treatment of anaplastic thyroid cancer: a systematic review.
Genetic mutations in the treatment of anaplastic thyroid cancer: a systematic review.
复制标题
DOI：
10.1186/1471-2482-13-s2-s44
复制
发表时间：
2013
期刊：
影响因子：
1.9
通讯作者：
Vitale M
中科院分区：
文献类型：
--
作者：
Guerra A;Di Crescenzo V;Garzi A;Cinelli M;Carlomagno C;Tonacchera M;Zeppa P;Vitale M
甲状腺未分化癌 (ATC) 是一种罕见的致命疾病，尽管采取最好的多学科护理，中位生存期仍为 6 个月。手术切除对于 ATC 患者来说并不能治愈，通常是一种姑息治疗。多学科护理可能包括手术、局部放射治疗和全身治疗。除了传统化疗之外，多激酶靶向抑制剂正在成为新型治疗工具。 ATC 中检测到的大量分子改变是这些抑制剂的目标。本次综述的目的是确定 ATC 中发生的主要遗传改变的患病率，并将结果置于新兴的激酶靶向疗法的背景下。该研究基于已发表的 PubMed 研究，该研究涉及 ATC 中 BRAF、RAS、PTEN、PI3KCA 和 TP53 突变以及 RET 重排的患病率。使用了 21 篇文章，涉及对选定基因的 652 个遗传分析。确定的总体患病率如下：RET/PTC，4%；布拉夫，23%； RAS，60%； PTEN，16%； PI3KCA，24%； TP53，48%。基因改变有时是重叠的。 BRAF、PTEN 和 PI3KCA 基因突变在 ATC 中很常见，其中 RAS 和 TP53 基因突变最常见。鉴于 ATC 遗传的复杂性，有效的治疗可能受益于多学科方法的个体化治疗方案。
Anaplastic thyroid cancer (ATC) is a rare, lethal disease associated with a median survival of 6 months despite the best multidisciplinary care. Surgical resection is not curative in ATC patients, being often a palliative procedure. Multidisciplinary care may include surgery, loco-regional radiotherapy, and systemic therapy. Besides conventional chemotherapy, multi kinase-targeted inhibitors are emerging as novel therapeutic tools. The numerous molecular alteration detected in ATC are targets for these inhibitors. The aim of this review is to determine the prevalence of the major genetic alterations occurring in ATC and place the results in the context of the emerging kinase-targeted therapies. The study is based on published PubMed studies addressing the prevalence of BRAF, RAS, PTEN, PI3KCA and TP53 mutations and RET rearrangements in ATC. 21 articles dealing with 652 genetic analyses of the selected genes were used. The overall prevalence determined were the following: RET/PTC, 4%; BRAF, 23%; RAS, 60%; PTEN, 16%; PI3KCA, 24%; TP53, 48%. Genetic alterations are sometimes overlapping. Mutations of BRAF, PTEN and PI3KCA genes are common in ATC, with RAS and TP53 being the most frequent. Given ATC genetic complexity, effective therapies may benefit from individualized therapeutic regimens in a multidisciplinary approach.