ECE2022 Oral Communications Oral Communications 3: Thyroid 1 (6 abstracts)
RET Fusion Genes in Thyroid Carcinomas
Barbora Pekova 1 , Vlasta Sykorova 1 , Karolina Mastnikova 1 , Eliska Vaclavikova 1 , Jitka Moravcova 1 , Petr Vlcek 2 , Petr Lastuvka 2 , Rami Katra 2 , Petr Bavor 2 , Daniela Kodetova 2 , Martin Chovanec 3 , Jana Drozenova 3 , Jaromir Astl 4 , Petr Hrabal 4 , Josef Vcelak 1 & Bela Bendlova 1
1Institute of Endocrinology, Department of Molecular Endocrinology, Prague 1, Czech Republic; 2Motol University Hospital, Prague, Czech Republic; 3University Hospital Kralovske Vinohrady, Prague, Czech Republic; 4Military University Hospital, Prague,
Objective: RET fusion genes are known driver mutation in thyroid cancer and have been described mainly in pediatric thyroid carcinomas, in which they represent the most common genetic alteration. In large cohorts of adult patients, RET fusions have not yet been well characterized. The aims of this study were to identify RET fusion-positive thyroid tumors in a cohort of different types of thyroid carcinomas and to correlate them with clinical and histopathological features and to determine the prognostic significance of RET fusion genes based on long-term follow-up of patients with thyroid cancer harboring this mutation.
Methods: The cohort consisted of 1067 different thyroid cancer samples (fresh frozen tissues). Based on the detected mutation, samples were triaged. Samples positive for the BRAF, HRAS, KRAS, NRAS, RET or NTRK fusion gene mutation were excluded from the further RET fusion gene analyses. Samples were analyzed using Real-Time PCR (LC480, Roche) or using the FusionPlex Comprehensive Thyroid and Lung panel (ArcherDx) by next generation sequencing on MiSeq sequencer (Illumina).
Results: RET fusion genes were detected in 103/914 (11.3%) papillary thyroid carcinomas, from which 32/118 (27.1%) were from pediatric patients (7-20 years old) and 71/796 (8.9%) were from adult patients. A total of 17 types of RET fusions were found, including the following partner genes: CCDC6, NCOA4, PRKAR1A, SQSTM1, IKBKG, RASAL2, TPR, ACBD5, RUFY2, BBIP1, AFAP1L2, AKAP13, TRIM27, SPECC1L, FBXO41, GOLGA5, SSBP2. The RET fusion-positive carcinomas were associated with follicular growth pattern, multifocality, extrathyroidal invasion, lymph node and distant metastases. Lymph node metastases were found in almost all (93.8%) pediatric cases. On the other hand, most patients responded well to radioiodine treatment.
Conclusion: In summary, RET fusion gene were found only in papillary thyroid carcinomas. The frequency was approximately three times higher in pediatric patients than in adult patients. RET fusion-positive carcinomas correlated with aggressive tumor behavior. In conclusion, the genetic molecular testing of RET fusions is important not only for patient’s diagnosis and prognosis, but also for possible targeted therapy.
Supported by the Ministry of Health of the Czech Republic DRO (Institute of Endocrinology – EU, 00023761) and AZV NU21-01-00448 grant.
Volume 81
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