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Critically evaluated key points on hereditary medullary thyroid carcinoma.

Daqi Zhang1, Nan Liang1, Hui Sun1

  • 1Division of Thyroid Surgery, The China-Japan Union Hospital of Jilin University, Jilin Provincial Key Laboratory of Surgical Translational Medicine, Jilin Provincial Precision Medicine Laboratory of Molecular Biology and Translational Medicine on Differentiated Thyroid Carcinoma, Changchun, China.

Frontiers in Endocrinology
|June 26, 2024
PubMed
Summary

Medullary thyroid carcinoma (MTC) is rare, diagnosed via calcitonin (Ctn) levels and RET gene mutation analysis. Early surgery offers cure, while advanced stages may use tyrosine kinase inhibitors.

Keywords:
CEAcalcitonindiagnosishereditarymedullary thyroid carcinomamenpathologythyroid

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Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Medullary thyroid carcinoma (MTC) comprises 3% of thyroid cancers, with 75% sporadic (sMTC) and 25% hereditary (hMTC) linked to Multiple Endocrine Neoplasia type 2 (MEN2).
  • Early diagnosis of MTC is crucial for effective management and improved patient outcomes.
  • Identifying RET proto-oncogene mutations aids in diagnosing hereditary MTC and managing affected families.

Purpose of the Study:

  • To outline diagnostic criteria and treatment strategies for Medullary Thyroid Carcinoma (MTC).
  • To emphasize the importance of calcitonin (Ctn) levels and RET mutation analysis in MTC management.
  • To define follow-up classifications and progression monitoring for MTC patients.

Main Methods:

  • Determining tumor marker calcitonin (Ctn) levels for diagnosis and monitoring.
  • Detecting RET proto-oncogene mutations for hereditary MTC identification.
  • Utilizing pTNM staging, RECIST criteria, and Ctn doubling time for assessing tumor progression.

Main Results:

  • Calcitonin (Ctn) levels guide surgical intervention thresholds (>100 pg/ml advises surgery).
  • Total thyroidectomy with central lymphadenectomy is the primary treatment for early-stage MTC.
  • Advanced MTC may be treated with tyrosine kinase inhibitors, with local treatments prioritized over systemic ones in case of progression.

Conclusions:

  • Accurate diagnosis and staging of MTC are essential for tailored treatment.
  • Postoperative monitoring, including Ctn levels and RET analysis, is critical for patient follow-up.
  • Active surveillance is often feasible, with treatment decisions guided by tumor progression and patient symptoms.