Abstract 6085: Molecular profile by next generation sequencing in papillary thyroid carcinoma, Colombian Cohort at Fundacion Santa fe de Bogota University Hospital

Abstract

Objective/aim: To describe the main molecular alterations in a Colombian Cohort of patients diagnosed with Papillary Thyroid Carcinoma (PTC) at Fundacion Santa Fe de Bogota University Hospital between 1993 and 2011 Methods: A total of 231 surgically intervened patients at our institution and diagnosed with PTC with available paraffin blocks were analysed. DNA and RNA extraction was performed from FFPE samples using Quick-DNA & RNA FFPE MiniPrep Kit (Zymo Research). Next Generation Sequencing analysis was performed using SOPHiA Solid Tumor Solutions Kit (SOPHiA GENETICS, Saint Sulpice, Suiza), which detects 42 DNA genes and 137 fusion genes with the platform MiSeq System (Illlumina, San Diego, California). Data underwent QA and QC and variants were analysed through Sophia commercial pipeline for somatic aberrations. Results: Among 231 patients, 82% were women, average age 45 +/- 13 y-o, 97% from Colombia, with institutional pathologic diagnosis of PTC. The most frequent histological subtypes were Classic PTG (33%), Follicular Infiltrative (29%) and Tall cell (23%). Identification of clinically relevant molecular alterations was done (see table 1). The most frequent SNV mutations were BRAF-V600E (72%), TP53 (9%) and IDH1-R132H (8%). The most frequent insertions or deletions (INDELS) were found in KIT (75%). We identified 8 fusion genes (most frequent were RET-CCD6 and ETV6-NTRK3). Interestingly, we detected 3 MSI positive cases. Conclusions: PTC molecular profile by NGS can allow us to improve molecular understanding of the disease and identify possible prognostic factors and treatment targets. Table 1. Molecular alterations detected by next-generation sequencing in Papillary carcinoma Molecular alterations Gene n % INDEL (n=20) KIT 15 75,0 NRAS 1 5,0 PTPN11 1 5,0 TP53 3 15 SNV (n=226) BRAF 163 72,1 FGFR1 1 0,4 HRAS 2 0,9 IDH1 19 8,4 KIT 2 0,9 KRAS 2 0,9 NRAS 9 4,0 PDGFRA 1 0,4 PIK3CA 3 1,3 SMAD4 4 1,8 TP53 20 8,8 Fusion genes (n=6) CCDC6-RET 2 25,0 ETV6-NTRK3 2 25,0 GOLGB1-TACC3 1 12,5 MYH14-BICC1 2 25,0 GOPC-RET 1 12,5 MSI (n=231) MSI-L 3 1,3 Negative 228 98,7 Citation Format: Paula Rodriguez, Sebastián González, Sergio Cruz, Yesith Juez, David Becerra, Margarita Baldión, Sandra Perdomo, Angela Beltran, Jose Hakim, Deyanira Gonzales. Molecular profile by next generation sequencing in papillary thyroid carcinoma, Colombian Cohort at Fundacion Santa fe de Bogota University Hospital [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 6085.