Guerra Anna, Di Crescenzo Vincenzo, Garzi Alfredo, Cinelli Mariapia, Carlomagno Chiara, Tonacchera Massimo, Zeppa Pio, Vitale Mario
BMC Surg. 2013;13 Suppl 2(Suppl 2):S44. doi: 10.1186/1471-2482-13-S2-S44. Epub 2013 Oct 8.
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.
间变性甲状腺癌（ATC）是一种罕见的致命疾病，尽管采取了最佳的多学科治疗，其平均生存期仍为6个月。手术切除对ATC患者无法治愈，通常只是一种姑息性手术。多学科治疗可能包括手术、局部区域放疗和全身治疗。除了传统化疗外，多激酶靶向抑制剂正成为新的治疗手段。在ATC中检测到的众多分子改变是这些抑制剂的靶点。本综述的目的是确定ATC中发生的主要基因改变的患病率，并将结果置于新兴的激酶靶向治疗背景下。
该研究基于发表在PubMed上的关于ATC中BRAF、RAS、PTEN、PI3KCA和TP53突变以及RET重排患病率的研究。
使用了21篇涉及所选基因652次基因分析的文章。确定的总体患病率如下：RET/PTC，4%；BRAF，23%；RAS，60%；PTEN，16%；PI3KCA，24%；TP53，48%。基因改变有时会重叠。
BRAF、PTEN和PI3KCA基因的突变在ATC中很常见，其中RAS和TP53最为频繁。鉴于ATC的基因复杂性，有效的治疗可能受益于多学科方法中的个体化治疗方案。
