Dario de Biase1, Greta Gandolfi2, Moira Ragazzi3, Markus Eszlinger4, Valentina Sancisi2, Mila Gugnoni2, Michela Visani5, Annalisa Pession5, Gianpaolo Casadei6, Cosimo Durante7, Giuseppe Costante8, Rocco Bruno9, Massimo Torlontano10, Ralf Paschke4, Sebastiano Filetti7, Simonetta Piana3, Andrea Frasoldati11, Giovanni Tallini1, Alessia Ciarrocchi2. 1. 1 Department of Medicine (DIMES), Anatomic Pathology Unit, Bellaria Hospital, University of Bologna , Bologna, Italy . 2. 2 Laboratory of Translational Research , Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy . 3. 3 Pathology Unit, Department of Oncology , Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy . 4. 4 Division of Endocrinology and Nephrology, University of Leipzig , Leipzig, Germany . 5. 5 Department of Pharmacology and Biotechnology (FaBiT), University of Bologna , Bologna, Italy . 6. 6 Anatomic Pathology Unit, AUSL Bologna-Maggiore Hospital , Bologna, Italy . 7. 7 Department of Internal Medicine, University la Sapienza , Rome, Italy . 8. 8 Department of Health Science, University Magna Grecia di Catanzaro , Catanzaro, Italy . 9. 9 Endocrinology Unit, Tinchi-Pisticci, Matera, Italy . 10. 10 Department of Medical Science , Ospedale Casa Sollievo della Sofferenza-IRCCS, San Giovanni Rotondo, Italy . 11. 11 Endocrinology Unit, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy .
Abstract
BACKGROUND: Small papillary thyroid carcinomas have contributed to the worldwide increased incidence of differentiated thyroid cancer observed over the past decades. However, the mortality rate has not changed over the same period of time, raising questions about the possibility that thyroid cancer patients, especially those with small tumors, are overdiagnosed and overtreated. Molecular prognostic marker able to discriminate aggressive thyroid cancers from those with an indolent course would be of great relevance to tailor the therapeutic approach and reduce overtreatment. Mutations in the TERT promoter were recently reported to correlate strongly with aggressiveness in advanced forms of thyroid cancer, holding promise for a possible clinical application. The occurrence and potential clinical relevance of TERT mutations in papillary thyroid microcarcinomas (mPTCs) is currently unknown. This study aimed to analyze the occurrence of two TERT promoter mutations (-124C>T and -146C>T) and their potential association with unfavorable clinical features in a large cohort of mPTCs. METHODS: A total of 431 mPTCs cases were collected from six Italian institutions, and TERT promoter mutational status was assessed by a next-generation sequencing approach. RESULTS: TERT promoter mutations were found in 4.7% of the analyzed mPTCs, showing that even microcarcinomas carry mutations in this gene. Correlation analysis showed that TERT promoter mutations are not associated with aggressive features or clinical outcome in the cohort analyzed. CONCLUSIONS: TERT mutations are present but uncommon in mPTCs. Apparently, in mPTCs, the occurrence of TERT mutations is not correlated with unfavorable clinical features.
BACKGROUND: Small papillary thyroid carcinomas have contributed to the worldwide increased incidence of differentiated thyroid cancer observed over the past decades. However, the mortality rate has not changed over the same period of time, raising questions about the possibility that thyroid cancerpatients, especially those with small tumors, are overdiagnosed and overtreated. Molecular prognostic marker able to discriminate aggressive thyroid cancers from those with an indolent course would be of great relevance to tailor the therapeutic approach and reduce overtreatment. Mutations in the TERT promoter were recently reported to correlate strongly with aggressiveness in advanced forms of thyroid cancer, holding promise for a possible clinical application. The occurrence and potential clinical relevance of TERT mutations in papillary thyroid microcarcinomas (mPTCs) is currently unknown. This study aimed to analyze the occurrence of two TERT promoter mutations (-124C>T and -146C>T) and their potential association with unfavorable clinical features in a large cohort of mPTCs. METHODS: A total of 431 mPTCs cases were collected from six Italian institutions, and TERT promoter mutational status was assessed by a next-generation sequencing approach. RESULTS:TERT promoter mutations were found in 4.7% of the analyzed mPTCs, showing that even microcarcinomas carry mutations in this gene. Correlation analysis showed that TERT promoter mutations are not associated with aggressive features or clinical outcome in the cohort analyzed. CONCLUSIONS:TERT mutations are present but uncommon in mPTCs. Apparently, in mPTCs, the occurrence of TERT mutations is not correlated with unfavorable clinical features.
Authors: Min Ji Jeon; Sung Min Chun; Ji-Young Lee; Kyeong Woon Choi; Deokhoon Kim; Tae Yong Kim; Se Jin Jang; Won Bae Kim; Young Kee Shong; Dong Eun Song; Won Gu Kim Journal: Endocrine Date: 2019-01-15 Impact factor: 3.633
Authors: Salvatore Piscuoglio; Charlotte Ky Ng; Melissa Murray; Kathleen A Burke; Marcia Edelweiss; Felipe C Geyer; Gabriel S Macedo; Akiko Inagaki; Anastasios D Papanastasiou; Luciano G Martelotto; Caterina Marchio; Raymond S Lim; Rafael A Ioris; Pooja K Nahar; Ino De Bruijn; Lillian Smyth; Muzaffar Akram; Dara Ross; John H Petrini; Larry Norton; David B Solit; Jose Baselga; Edi Brogi; Marc Ladanyi; Britta Weigelt; Jorge S Reis-Filho Journal: J Pathol Date: 2016-01-25 Impact factor: 7.996