ECE2022 Rapid Communications Rapid Communications 3: Thyroid 1 (7 abstracts)
Are BRAF-TERT mutated differentiated thyroid cancers similar to other double mutated?
Alessandra Colapinto 1 , Cristina Basso 1 , Valentina Vicennati 1 , Ottavio Cavicchi 2 , Elisa Lodi Rizzini 3 , Arber Golemi 4 , Elena Tabacchi 4 , Margherita Nannini 5 , Dario De Biase 6 , Antonio De Leo 7 , Giovanni Tallini 7 , Uberto Pagotto 1 & Andrea Repaci 8
1IRCCS Azienda Ospedaliero-Universitaria di Bologna, Alma Mater Studiorum University of Bologna, Department of Medical and Surgical Sciences (DIMEC), Division of Endocrinology and Diabetes Prevention and Care, Bologna, Italy; 2IRCCS Azienda Ospedaliero-Universitaria di Bologna, Otolaryngology Head and Neck Surgery Unit; 3IRCCS Azienda Ospedaliero-Universitaria di Bologna, Radiotherapy Unit, Bologna, Italy; 4IRCCS Azienda Ospedaliero-Universitaria di Bologna, Nuclear Medicine Unit, Bologna, Italy; 5IRCCS Azienda Ospedaliero-Universitaria di Bologna, Oncology Unit, Bologna, Italy; 6Alma Mater Studiorum University of Bologna, Department of Pharmacy and Biotechnology (FaBit), Molecular Diagnostic Unit, Bologna, Italy; 7Alma Mater Studiorum University of Bologna, Department of Experimental, Diagnostic and Specialty Medicine, Anatomic Pathology and Molecular Diagnostic Unit, Bologna, Italy; 8IRCCS Azienda Ospedaliero-Universitaria di Bologna, Division of Endocrinology and Diabetes Prevention and Care, Bologna, Italy
Introduction: Differentiated thyroid cancers (DTCs) carrying BRAF and TERT mutations are associated with high-risk clinicopathological features and poor prognosis. However, there are currently no studies comparing BRAF-TERT tumors to other double mutated DTCs.
Aim: To verify whether BRAF-TERT mutated DTCs differ from other double mutated DTCs in terms of clinicopathological characteristics and outcome.
Materials and Methods: 168 DTCs consecutively operated between 2017 and 2021 were analyzed by Next Generation Sequencing. Based on the number of mutant genes, patients were first classified into single or double mutated groups. Multiple mutated DTCs were further subclassified on the basis of the presence or absence of the BRAF-TERT mutation in two groups and finally compared each other regarding clinicopathological characteristics, persistent disease one year after the initial treatment and at the end of the follow-up, respectively.
Results: In our population 25/168 DTCs (14,8%) had a double mutation, which in more than 50% (14/25 – 56%) was BRAF-TERT positive. The other double mutated tumors were subdivided as: 5/25 RAS-TERT (20%), 2/25 BRAF-P53 (8%), 2/25 BRAF-PI3KCA (8%), 1/25 RAS-PI3KCA (4%) and 1/25 TERT-PI3KCA (4%). From the comparison with single mutated DTCs, double mutated DTCs were more associated with older age, larger tumor, more advanced TNM stage (OR 8,88; 95% CI 2,68 to 29,36), greater risk of structural persistence (OR 13,39; 95% CI 5,06 to 35,41), increased progression of disease (OR 7, 00; 95% CI 2.04 to 23,93) and death. Compared to other double mutated, BRAF-TERT DTCs do not differ in age, sex, aggressive histotype, tumor size, extrathyroidal extension, lymph node involvement, distant metastases, stage (AJCC 8 ed), ATA risk, post-therapeutic I-131 whole body scan and PET uptake (P-value > 0.05). Although 3 of the 14 patients carrying BRAF-TERT mutated DTC died from disease progression, this data was not statically significant and no differences were observed in terms of disease persistence rates at 12 months and at the last follow-up. The two groups differ from each other only in the value of thyroglobulin at the time of ablation, which was statistically significant lower in the BRAF-TERT subgroup (median 2,2 ng/dl vs 54,10 ng/dl P-value 0.010).
Conclusions: Double mutated DTCs showed similar clinicopathological features, regardless the pair of gene involved. Furthermore, lower thyroglobulin at ablation in BRAF-TERT mutated DTCs should not be considered as a valid predictor of remission. Further prospective studies with longer follow-up and wider population are necessary to confirm our results.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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