Fundamentals and recent advances in the evaluation and management of medullary thyroid carcinoma.

Mol Cell Endocrinol

Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

Published: October 2024

AI Article Synopsis

  • - Medullary thyroid carcinoma (MTC) is a rare form of thyroid cancer, mostly occurring sporadically while also being linked to genetic syndromes like multiple endocrine neoplasia.
  • - RET mutations are key drivers of MTC, and recent research indicates that many patients have druggable genetic alterations, enhancing treatment options.
  • - Early surgical intervention is crucial for the best chance at curing MTC, but ongoing advancements in surveillance, localized treatments, and systemic therapies have improved outcomes for patients with advanced stages of the disease.

Article Abstract

Medullary thyroid carcinoma (MTC) is a rare primary neuroendocrine thyroid carcinoma that is distinct from other thyroid or neuroendocrine cancers. Most cases of MTC are sporadic, although MTC exhibits a high degree of heritability as part of the multiple endocrine neoplasia syndromes. REarranged during Transfection (RET) mutations are the primary oncogenic drivers and advances in molecular profiling have revealed that MTC is enriched in druggable alterations. Surgery at an early stage is the only chance for cure, but many patients present with or develop metastases. C-cell-specific calcitonin trajectory and structural doubling times are critical biomarkers to inform prognosis, extent of surgery, likelihood of residual disease, and need for additional therapy. Recent advances in the role of active surveillance, regionally directed therapies for localized disease, and systemic therapy with multi-kinase and RET-specific inhibitors for progressive/metastatic disease have significantly improved outcomes for patients with MTC.

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http://dx.doi.org/10.1016/j.mce.2024.112295DOI Listing

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