ECE2014 Poster Presentations Thyroid Cancer (70 abstracts)
TERT promoter mutations correlate with a more advanced stage at diagnosis and with a poorer prognosis in differentiated thyroid cancer
Carla Colombo 1 , Marina Muzza 1 , Stefania Rossi 2 , Valentina Cirello 1 , Michela Perrino 1 , Delfina Tosi 2 , Beatrice Vigo 1 , Simone De Leo 1 , Gaetano Bulfamante 2 , Elisa Magnani 3 , Elisa Pignatti 3 , Manuela Simoni 3 , Leonardo Vicentini 4 & Laura Fugazzola 1
1Endocrine Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca’ Granda, Milan, Italy; 2Unit of Pathological Anatomy, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy; 3Department of Biomedicine, Metabolism and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; 4Endocrine Surgery Unit, Fondazione IRCCS Ca’Granda, Milan, Italy.
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends and plays a role in cellular senescence, being repressed in postnatal somatic cells. Mutations C228T and C250T of the telomerase reverse transcriptase (TERT) were recently reported in human cancers. In thyroid cancer, TERT mutations are more frequent in aggressive histotypes, but very few data are available about the potential correlations with clinical features in papillary and follicular thyroid cancers (PTC and FTC). In the present study, TERT proximal promoter mutations were explored in a large series of 182 PTCs and 58 FTCs and correlated with clinical and prognostic data. TERT mutations were found in 22/182 (12%) PTCs and in 8/58 (14%) FTCs, being TERT C228T the most prevalent. No mutations were found in 20 controls. TERT mutations were significantly associated with an older age at diagnosis and a worst outcome and they were the only significant independent predictors of persistence/recurrence (P=0.0002 at logistic regression analysis). BRAFV600E mutation was found in 64/182 tumors (35.2%). BRAFV600E tumors harbored more frequently a TERT mutation than BRAFWT cases (15.6 vs 10.2%). In FTCs, ras mutations were found in 14/58 cases. The prevalence of TERT mutations in rasmut and rasWT cases was of 14.3 and 13.6% respectively. Seven metastatic lymph-nodes were also studied and their molecular pattern was identical to that of the primary tumor in 4, while it was discrepant in three patients (acquirement or loss of a TERT or BRAF mutation in the metastasis).
In conclusion, we found a 13% prevalence of TERT mutations in a large series of differentiated thyroid cancers. TERT mutations were the only significant independent predictors of persistence/recurrence and seem to be strong markers of tumor aggressiveness, allowing to identify the small subgroup of tumors with a poorer outcome and for those a more aggressive treatment should be deserved.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more