ECE2018 Guided Posters Thyroid Cancer - Diagnostics & Treatments (12 abstracts)
Molecular profiling of a large papillary thyroid cancer series followed at a single center: data on mutation density, heterogeneity and phenotype-genotype correlations
Carla Colombo 1, , Marina Muzza 1, , Maria Carla Proverbio 2 , Delfina Tosi 4, , Chiara Pesenti 2, , Stefania Rossi 4, , Valentina Cirello 1 , Simone De Leo 1 , Gaetano Bulfamante 4, , Stefano Ferrero 2, , Silvia Tabano 2, & Laura Fugazzola 1
1Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Milano, Italy; 2Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Milano, Italy; 3Endocrine Unit, Fondazione IRCCS Ca’ Granda-Ospedale Maggiore Policlinico, Milan, Milano, Italy; 4Unit of Pathology, ASST Santi Paolo e Carlo, Milan, Milano, Italy; 5Department of Health Sciences, Università degli Studi di Milano, Milan, Milano, Italy; 6Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Milano, Italy; 7Department of Biomedical, Surgical and Dental Sciences, Università degli Studi di Milano, Milan, Milano, Italy.
Recent advances in the molecular classification of papillary thyroid cancer (PTC) have improved the diagnostic work-up and the care of patients with thyroid nodules and cancer, highlighting the need to routinely add information on the genetic pattern to the classification of cancer. The genomic background of a large series of 208 PTCs followed at a single Center was analysed by a custom MA genotyping platform (PTC-MA), which allows the simultaneous detection of 19 genetic alterations including point mutations and fusions in a sensitive, fast and economic way. The 74% of the cancers analysed has been genetically classified, being BRAFV600E variant and TERT promoter mutations the most frequent alterations, followed by RET/PTC fusions. Fusions were significantly more frequent in younger ages, while TERT associated with older patients. Interestingly, in 20% of cases two or more mutations were found. In particular, a TERT promoter mutation was associated with BRAF and RAS mutations in 28.7 and 14.2%, respectively, and the co-occurrence of a fusion with ≥1 point mutation/s was also observed. In the majority of cases, allelic frequencies were consistent with the presence of the heterozygous mutation in virtually all the neoplastic cells. Nevertheless, in a minority of cases, mutations were detected by the PTC-MA assay even if present at low allelic frequencies indicating a tumor heterogeneity. A significant correlation of aggressive features was found with mutation density, but not with the allelic frequencies of driver oncogenes. The genotype-phenotype correlation revealed that aggressive clinical characteristics were more frequent in mutated cases, and the strong cooperative role of coexisting BRAFV600E and TERT promoter mutations in the development of a group of PTCs displaying the worst clinicalpathological features was confirmed. In conclusion, a large monoinstitutional series of PTCs was fully genotyped by means of a cost and time-effective customized panel, revealing interesting data and implying the actual prospective to routinely include it in thyroid cancer classification, in view of a personalized therapeutic approach.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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