Genetic mutations in the treatment of anaplastic thyroid cancer: a systematic review

BMC Surgery

Research Article

Chiara Carlomagno¹  Massimo Tonacchera²  Pio Zeppa³  Mario Vitale³  Alfredo Garzi³  Vincenzo Di Crescenzo³  Anna Guerra³  Mariapia Cinelli⁴ 

[1] Clinical Medicine and Surgery, University of Naples "Federico II", Naples, Italy;Endocrinology, Research Center of Excellence AmbiSEN, University of Pisa, Pisa, Italy;Medicine and Surgery, University of Salerno, Salerno, Italy;Public Health, University of Naples "Federico II", Naples, Italy;

关键词: Thyroid Cancer;    Sorafenib;    Sunitinib;    Papillary Thyroid Carcinoma;    Differentiate Thyroid Cancer;   

DOI  :  10.1186/1471-2482-13-S2-S44

来源: Springer

【 摘 要 】

BackgroundAnaplastic 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.MethodsThe study is based on published PubMed studies addressing the prevalence of BRAF, RAS, PTEN, PI3KCA and TP53 mutations and RET rearrangements in ATC.Results21 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.ConclusionsMutations 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.

【 授权许可】

Unknown   
© Guerra et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.