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The Thyroid Gland01:23

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Updated: Sep 27, 2025

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Medullary thyroid cancer - An update.

Laura Fugazzola1

  • 1IRCCS Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases, Milan and Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Best Practice & Research. Clinical Endocrinology & Metabolism
|April 15, 2022
PubMed
Summary

Medullary thyroid cancer (MTC), a rare neuroendocrine tumor, presents unique research opportunities due to its distinct progression and genetic profile. Advances in diagnosis and targeted therapies are improving personalized follow-up for advanced MTC.

Keywords:
cabozantinibcalcitonincirculating tumor DNAmedullary thyroid cancermiRNAselpercatinib

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Area of Science:

  • Endocrinology
  • Oncology
  • Translational Research

Background:

  • Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor, accounting for approximately 5% of all thyroid cancers.
  • It originates from parafollicular cells and exhibits unique clinical behavior, including insidious micro-metastasis and unpredictable progression.
  • MTC possesses a well-defined genetic landscape in both sporadic and familial forms, making it a valuable model for targeted therapy development.

Purpose of the Study:

  • To provide an updated overview of diagnostic modalities for medullary thyroid cancer.
  • To review current therapeutic strategies for advanced MTC.
  • To highlight emerging opportunities for personalized patient follow-up in the context of precision medicine.

Main Methods:

  • This review synthesizes current literature on medullary thyroid cancer diagnosis and treatment.
  • It focuses on advancements relevant to precision medicine and personalized care.
  • The review examines genetic characterization and its implications for targeted drug development.

Main Results:

  • Diagnostic tools for MTC are continually evolving, aiding in earlier and more accurate detection.
  • Therapeutic options for advanced MTC are expanding, with a growing emphasis on targeted agents.
  • Personalized follow-up strategies are being developed, leveraging genetic insights and advanced monitoring techniques.

Conclusions:

  • Medullary thyroid cancer, despite its rarity, offers significant translational research potential.
  • Precision medicine approaches are transforming the management of MTC, from diagnosis to long-term follow-up.
  • Continued research into MTC's unique biology and genetics promises further advancements in patient care.