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<p>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.</p>

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Comprehensive Transcriptome Profiling of Sporadic Medullary Thyroid Carcinomas

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月15日

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  • Domenico Palumbo,
  • Viola Melone,
  • Luigi Palo,
  • Fabio Russo,
  • Domenico Rocco,
  • Caterina Mian,
  • Susi Barollo,
  • Simona Censi,
  • Loris Bertazza,
  • Maria Chiara Zatelli,
  • Alessandro Weisz,
  • Roberta Tarallo,
  • Mario Vitale

摘要

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.