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Allergy & Immunology60 papers

Medullary thyroid carcinoma

Last edited: 4/14/2026

Overview

Medullary thyroid carcinoma (MTC) constitutes 2-4% of thyroid cancers, characterized by neuroendocrine features and association with RET proto-oncogene mutations, either germline or somatic 1. It presents with variable clinical behavior, ranging from localized disease to refractory metastatic forms 1.

Diagnosis

  • Genetic Testing: Essential for identifying RET mutations, crucial in familial cases 5.
  • Serum Calcitonin Levels: Elevated levels are indicative of MTC; monitoring is critical for disease progression 118.
  • Imaging Studies: Ultrasound, CT, MRI, and radioisotope scans (e.g., radioiodine uptake) for localization and staging 14.
  • Histopathology: Histological examination confirms diagnosis; high-grade forms correlate with poorer prognosis 1.

    • Management

  • First-Line Treatments:
    • - Surgical Resection: Primary treatment for localized disease 4. - Pralsetinib: Approved for metastatic MTC; specific dosing details not provided in abstracts 2.
  • Adjunctive Therapies:
    • - Radiotherapy: Considered in specific cases, particularly for symptom relief 4. - Chemotherapy: Limited efficacy; pralsetinib represents a newer targeted approach 2.

    Special Populations

  • Pediatrics: Early detection crucial in MEN 2 syndromes; prophylactic thyroidectomy recommended in high-risk cases 13.
  • Comorbidities: Management in context of MEN 2 syndromes requires multidisciplinary care addressing pheochromocytoma and mucosal neuromas 13.

    • Key Recommendations

  • Genetic Testing for RET Mutations: Essential for diagnosis and management planning in suspected MTC cases (Evidence: Strong 5).
  • Serum Calcitonin Monitoring: Regular assessment for early detection of recurrence and disease progression (Evidence: Moderate 118).
  • Surgical Resection for Localized Disease: Primary treatment to improve outcomes (Evidence: Strong 4).
  • Use of Targeted Therapy: Pralsetinib for metastatic disease as a first-line targeted therapy (Evidence: Moderate 2).
  • Multidisciplinary Approach for Syndromic Cases: Essential in managing MEN 2 syndromes to address multiple endocrine manifestations (Evidence: Expert opinion 13).

    • References

    1 Lasolle H, Do Cao C, Lamartina L, Al Ghuzlan A, Drui D, Buffet C et al.. ENDOCAN-TUTHYREF network consensus recommendations. Refractory medullary thyroid cancer. Annales d'endocrinologie 2025. link 2 Zhang D, Sun Y, Cai Y, Zeng P, Wang Y, Cai M et al.. Real-world FAERS safety analysis of Pralsetinib. Scientific reports 2025. link 3 Sira L, Balogh Z, Vitális E, Kovács D, Győry F, Molnár C et al.. Case Report: Medullary Thyroid Cancer Workup Initiated by Unexpectedly High Procalcitonin Level-Endocrine Training Saves Life in the COVID-19 Unit. Frontiers in endocrinology 2021. link 4 Wells SA, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF et al.. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid : official journal of the American Thyroid Association 2015. link 5 Heshmati HM, Gharib H, Khosla S, Abu-Lebdeh HS, Lindor NM, Thibodeau SN. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clinic proceedings 1997. link 6 Beerman H, Rigaud C, Bogomoletz WV, Hollander H, Veldhuizen RW. Melanin production in black medullary thyroid carcinoma (MTC). Histopathology 1990. link 7 Bjartell A, Persson P, Absood A, Sundler F, Håkanson R. Helodermin-like peptides in noradrenaline cells of adrenal medulla. Regulatory peptides 1989. link90101-8) 8 Holm R, Sobrinho-Simões M, Nesland JM, Johannessen JV. Concurrent production of calcitonin and thyroglobulin by the same neoplastic cells. Ultrastructural pathology 1986. link 9 Albores-Saavedra J, LiVolsi VA, Williams ED. Medullary carcinoma. Seminars in diagnostic pathology 1985. link 10 Ghatei MA, Springall DR, Nicholl CG, Polak JM, Bloom SR. Gastrin-releasing peptide-like immunoreactivity in medullary thyroid carcinoma. American journal of clinical pathology 1985. link 11 Dämmrich J, Ormanns W, Schäffer R. Electron microscopic demonstration of calcitonin in human medullary carcinoma of thyroid by the immuno gold staining method. Histochemistry 1984. link 12 Van Zwieten MJ, Frith CH, Nooteboom AL, Wolfe HJ, Delellis RA. Medullary thyroid carcinoma in female BALB/c mice. A report of 3 cases with ultrastructural, immunohistochemical, and transplantation data. The American journal of pathology 1983. link 13 Kaufman FR, Roe TF, Isaacs H, Weitzman JJ. Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. Pediatrics 1982. link 14 Parthasarathy KL, Shimaoka K, Bakshi SP, Razack MS. Radiotracer uptake in medullary carcinoma of the thyroid. Clinical nuclear medicine 1980. link 15 Mendelsohn G, Baylin SB, Eggleston JC. Relationship of metastatic medullary thyroid carcinoma to calcitonin content of pheochromocytomas: an immunohistochemical study. Cancer 1980. link45:3<498::aid-cncr2820450314>3.0.co;2-r) 16 Aw TC, Seah HC, Cheah JS. Medullary carcinoma of the thyroid presenting as fatal asphyxia. The Medical journal of Australia 1979. link 17 Kameda Y, Harada T, Ito K, Ikeda A. Immunohistochemical study of the medullary thyroid carcinoma with reference to C-thyroglobulin reaction of tumor cells. Cancer 1979. link44:6<2071::aid-cncr2820440618>3.0.co;2-o) 18 Sizemore GW, Hpeath H, Larson JM. Immunochemical heterogeneity of calcitonin in plasma of patients with medullary thryoid carcinoma. The Journal of clinical investigation 1975. link

    Original source

    1. [1]
      ENDOCAN-TUTHYREF network consensus recommendations. Refractory medullary thyroid cancer. — Lasolle H, Do Cao C, Lamartina L, Al Ghuzlan A, Drui D, Buffet C et al. Annales d'endocrinologie (2025)
    2. [2]
      Real-world FAERS safety analysis of Pralsetinib. — Zhang D, Sun Y, Cai Y, Zeng P, Wang Y, Cai M et al. Scientific reports (2025)
    3. [3]
      Case Report: Medullary Thyroid Cancer Workup Initiated by Unexpectedly High Procalcitonin Level-Endocrine Training Saves Life in the COVID-19 Unit. — Sira L, Balogh Z, Vitális E, Kovács D, Győry F, Molnár C et al. Frontiers in endocrinology (2021)
    4. [4]
      Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. — Wells SA, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF et al. Thyroid : official journal of the American Thyroid Association (2015)
    5. [5]
      Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. — Heshmati HM, Gharib H, Khosla S, Abu-Lebdeh HS, Lindor NM, Thibodeau SN Mayo Clinic proceedings (1997)
    6. [6]
      Melanin production in black medullary thyroid carcinoma (MTC). — Beerman H, Rigaud C, Bogomoletz WV, Hollander H, Veldhuizen RW Histopathology (1990)
    7. [7]
      Helodermin-like peptides in noradrenaline cells of adrenal medulla. — Bjartell A, Persson P, Absood A, Sundler F, Håkanson R Regulatory peptides (1989)
    8. [8]
      Concurrent production of calcitonin and thyroglobulin by the same neoplastic cells. — Holm R, Sobrinho-Simões M, Nesland JM, Johannessen JV Ultrastructural pathology (1986)
    9. [9]
      Medullary carcinoma. — Albores-Saavedra J, LiVolsi VA, Williams ED Seminars in diagnostic pathology (1985)
    10. [10]
      Gastrin-releasing peptide-like immunoreactivity in medullary thyroid carcinoma. — Ghatei MA, Springall DR, Nicholl CG, Polak JM, Bloom SR American journal of clinical pathology (1985)
    11. [11]
      Electron microscopic demonstration of calcitonin in human medullary carcinoma of thyroid by the immuno gold staining method. — Dämmrich J, Ormanns W, Schäffer R Histochemistry (1984)
    12. [12]
      Medullary thyroid carcinoma in female BALB/c mice. A report of 3 cases with ultrastructural, immunohistochemical, and transplantation data. — Van Zwieten MJ, Frith CH, Nooteboom AL, Wolfe HJ, Delellis RA The American journal of pathology (1983)
    13. [13]
      Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. — Kaufman FR, Roe TF, Isaacs H, Weitzman JJ Pediatrics (1982)
    14. [14]
      Radiotracer uptake in medullary carcinoma of the thyroid. — Parthasarathy KL, Shimaoka K, Bakshi SP, Razack MS Clinical nuclear medicine (1980)
    15. [15]
      Relationship of metastatic medullary thyroid carcinoma to calcitonin content of pheochromocytomas: an immunohistochemical study. — Mendelsohn G, Baylin SB, Eggleston JC Cancer (1980)
    16. [16]
      Medullary carcinoma of the thyroid presenting as fatal asphyxia. — Aw TC, Seah HC, Cheah JS The Medical journal of Australia (1979)
    17. [17]
      Immunohistochemical study of the medullary thyroid carcinoma with reference to C-thyroglobulin reaction of tumor cells. — Kameda Y, Harada T, Ito K, Ikeda A Cancer (1979)
    18. [18]
      Immunochemical heterogeneity of calcitonin in plasma of patients with medullary thryoid carcinoma. — Sizemore GW, Hpeath H, Larson JM The Journal of clinical investigation (1975)
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