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Open Access 01-10-2013 | Research article

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

Authors: Anna Guerra, Vincenzo Di Crescenzo, Alfredo Garzi, Mariapia Cinelli, Chiara Carlomagno, Massimo Tonacchera, Pio Zeppa, Mario Vitale

Published in: BMC Surgery | Special Issue 2/2013

Abstract

Background

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.

Methods

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

Results

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.

Conclusions

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.

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Title: Genetic mutations in the treatment of anaplastic thyroid cancer: a systematic review
Authors: Anna Guerra
Vincenzo Di Crescenzo
Alfredo Garzi
Mariapia Cinelli
Chiara Carlomagno
Massimo Tonacchera
Pio Zeppa
Mario Vitale
Publication date: 01-10-2013
Publisher: BioMed Central
Published in: BMC Surgery / Issue Special Issue 2/2013
Electronic ISSN: 1471-2482
DOI: https://doi.org/10.1186/1471-2482-13-S2-S44

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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