ENDOCRINE TUMOURS Genetic predictors of thyroid cancer outcome

• Type: Another Publication in an International Scientific Journal
• Date: 2016

Authors

Tavares, C (Author) Other; Melo, M (Author) Other; Manuel Cameselle Teijeiro, JM (Author) Other; Soares, P (Author) FMUP; Sobrinho Simoes, M (Author) FMUP

Journal

Title: European Journal of Endocrinology

Vol. 174

Pages: R117-R126

ISSN: 0804-4643

Publisher: BioScientifica Ltd.

Indexing

ISI Web of Knowledge - 57 Citations

Scopus - 65 Citations

Other information

Authenticus ID: P-00K-AZW

DOI: 10.1530/eje-15-0605

Abstract (EN): Genetic predictors of outcome are reviewed in the context of a disease - cancer - that can be (too) simplistically described as a 'successful, invasive clone of our own tissues'. Context has many faces that determine a thyroid cancer patient's outcome beyond the influence of genetic markers. There is also plenty of evidence on the prognostic meaning of the interplay between genetics and context/microenvironment factors (encapsulation, degree of invasion, staging, etc.). This review addresses only genetic alterations detected by molecular methods in surgically resected specimens, thus ruling out immunohistochemistry and (F) ISH, despite their crucial relevance as topographically oriented methods. For the sake of the discussion, well-differentiated carcinomas were divided into two main morphologic types: papillary carcinoma (classic and most variants) displaying BRAFV600E mutations and RET/papillary thyroid carcinoma rearrangements and the group of follicular patterned carcinomas that encompasses follicular carcinoma and the encapsulated form of follicular variant of papillary carcinoma, displaying RAS mutations and PAX8/PPARg rearrangement. TERT promoter mutations have been recently described (and associated with distant metastases and reduced survival) in papillary and follicular carcinomas, as well as in poorly differentiated and undifferentiated carcinoma. TP53 mutations, previously thought to be restricted to less differentiated carcinomas, were also detected in papillary and follicular carcinoma and found to carry a guarded prognosis. Besides their putative importance for targeted therapies, the prognostic meaning of such mutations is discussed per se and in the setting of concurrent BRAF mutation.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 10