ETA2023 Poster Presentations Thyroid Cancer (9 abstracts)
A novel somatic genetic alteration in sporadic medullary thyroid carcinoma
Malgorzata Kowalska 1 , Aleksandra Pfeifer 2 , Jadwiga Zebracka-Gala 3 , Marta Cieślicka 4 , Ewa Chmielik 5 , Dagmara Rusinek 6 , Jolanta Krajewska 7 , Agnieszka Czarniecka 8 & Malgorzata Oczko-Wojciechowska 9
1Maria Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Department of Clinical and Molecular Genetic, Gliwice, Poland; 2Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Department of Clinical and Molecular Genetics, Gliwice, Poland; 3Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, M. Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Department of Clinical and Molecular Genetics, Gliwice, Poland; 4Maria Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Gliwice, Poland; 5Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Tumor Pathology Department, Gliwice, Poland; 6Maria Sklodowska-Curie Institute - Oncology Center, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Institute - Oncology Center Gliwice Branch, Gliwice, Gliwice, Poland; 7Maria Skladowska-Curie National Research Institute of Oncology, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Gliwice, Poland; 8Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, The 3-Rd Oncologic Surgery Clinic, Gliwice, Poland; 9Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Department of Clinical and Molecular Genetics, Giwice, Poland
Introduction: Medullary thyroid carcinoma (MTC) is a malignant thyroid tumor originating from parafollicular C-cells. Most of MTCs (75%) are sporadic while remaining are hereditary. The hereditary form of MTC is a consequence of the mutation of the proto-oncogene RET (Rearranged During Transfection). Somatic mutations of the RET gene are also present in 40%-70% of the sporadic form of MTC (sMTC). Somatic mutations are also observed in the RAS genes and very rarely in the BRAF gene. Gene fusions are usually not observed and are rarely reported in MTCs. There are currently two reports describing single medullary thyroid carcinoma specimens in which gene fusions have been detected. According to recent advances in targeted therapies, it is important to identify new potential molecular targets for management of advances and metastatic MTCs. Therefore the aim of this study was to investigate the gene rearrangements and gene variants in tumor tissue of sporadic medullary thyroid carcinoma.
Method and samples: The sporadic MTC tumor tissues of 40 patients were analyzed using Archer library kit and the MiniSeq Illumina sequencing system. For the fusion gene analysis, RNA was isolated from the fresh frozen tissues samples which were collected intraoperatively. RNeasy Micro Kit (Qiagen) were used. The bioinformatics analysis was performed with the Archer Analysis software v. 7.0.0-4 and own bioinformatic pipeline.
Results: RET and RAS genes mutation were predominantly present in sporadic MTC tumor cells. Fusion of ALK gene with long non-coding RNA transcript was detected in 3 samples. Both genes involved in the fusion are located on chromosome 2 and are in an adjacent location, what might be the case of a "read-through" fusion. This fusion has previously been detected in glioblastoma multiforme and Ewing sarcoma cell lines.
Conclusions: Fusion genes in sporadic MTC is rare however ALK fusion gene is observed at low frequencies. The role of this alteration in the carcinogenesis of sporadic medullary thyroid carcinoma requires further investigation.
Volume 92
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Endocrine Abstracts
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