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Anaplastic thyroid cancer – an overview of genetic variations and treatment modalities

Authors Reddi H, Kumar A, Kulstad R

Received 7 June 2014

Accepted for publication 23 August 2014

Published 16 January 2015 Volume 2015:5 Pages 43—52

DOI https://doi.org/10.2147/AGG.S53448

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Dr John Martignetti


Honey V Reddi,1 Anirudh Kumar,2 Roger Kulstad3

1Transgenomic, Inc., New Haven, CT, USA; 2University of Toronto, Toronto, ON, Canada; 3Division of Endocrinology, Marshfield Clinic, Marshfield, WI, USA

Abstract: Anaplastic thyroid carcinoma (ATC) is a rare but highly aggressive malignancy that accounts for about 1%–2% of all thyroid cancer diagnoses but is responsible for up to 30%–40% of thyroid cancer deaths. ATCs are poorly differentiated tumors that develop on the background of preexisting, often undiagnosed, papillary thyroid carcinoma or follicular thyroid carcinoma, through progressive accumulation of changes in several oncogenic and tumor suppressor pathways, including p53, RAS, RAF, Wnt-β-catenin and the PTEN-AKT pathways. Consequently, the 1-year survival rate after diagnosis ranges from 5% to 15%. Current therapeutic approaches are aimed at common late oncogenic changes and involve inhibition of MAPK and PI3K cell proliferation pathways or restoration of p53 and PTEN tumor suppressor pathways. Since single-modality therapy has limited effect on anaplastic thyroid cancer, aggressive multimodal treatments are now the treatment of choice, in spite of which, the mean survival time from diagnosis to death continues to remain at about 6 months. The current review attempts to summarize the genetics involved in the development and progression of ATC and provides some insight into the therapeutic options being evaluated for this aggressive cancer.

Keywords: genetic alterations, treatment strategies, diagnostic testing

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