Medullary thyroid carcinoma (MTC) is a rare thyroid cancer arising from parafollicular C cells belonging to the heterogeneous class of neuroendocrine neoplasms. Mutations in the RET and RAS genes are detected in approximately 50% to 80% of sporadic MTCs, while other genetic alterations are relatively uncommon. Only a few transcriptomic studies of this neoplasia have been performed, and the biology and the molecular mechanisms underlying its progression remain largely unknown. In this study, we performed transcriptome profiling of a cohort comprising 72 MTC specimens from patients with different genetic backgrounds. The presented data highlighted the molecular heterogeneity of MTCs and the need for personalized treatment strategies. For this reason, the obtained profiles could offer novel perspectives into the molecular landscape of this neoplasm within the scientific community.

Comprehensive Transcriptome Profiling of Sporadic Medullary Thyroid Carcinomas

Palumbo, Domenico;Melone, Viola;Palo, Luigi;Rocco, Domenico;Weisz, Alessandro;Tarallo, Roberta
;
Vitale, Mario
2026

Abstract

Medullary thyroid carcinoma (MTC) is a rare thyroid cancer arising from parafollicular C cells belonging to the heterogeneous class of neuroendocrine neoplasms. Mutations in the RET and RAS genes are detected in approximately 50% to 80% of sporadic MTCs, while other genetic alterations are relatively uncommon. Only a few transcriptomic studies of this neoplasia have been performed, and the biology and the molecular mechanisms underlying its progression remain largely unknown. In this study, we performed transcriptome profiling of a cohort comprising 72 MTC specimens from patients with different genetic backgrounds. The presented data highlighted the molecular heterogeneity of MTCs and the need for personalized treatment strategies. For this reason, the obtained profiles could offer novel perspectives into the molecular landscape of this neoplasm within the scientific community.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11386/4943796
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