Metastatic Medullary Thyroid Carcinoma as a Presenting Feature of Multiple Endocrine Neoplasia 2B: A Case Report and Literature Review

  • Mohsen Esfandbod ORCID Department of Hematology-Oncology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
  • Bahareh Shateri amiri ORCID Mail Department of Internal Medicine, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
  • Reza Taslimi ORCID Department of Gastroenterology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
Keywords:
Multiple endocrine neoplasia, Type 2B, Neoplasms, Thyroid

Abstract

Background: Multiple Endocrine Neoplasia type 2B (MEN2B) is an autosomal dominant disorder characterized by Medullary Thyroid Carcinoma (MTC) and pheochromocytoma. MTC occurs in almost all MEN2B patients. The tumor develops at an earlier age and is aggressive. Surgery is often not curative for this condition. Death from MTC occurred in 50% of patients with MEN2B. Thus, early diagnosis and prevention are crucial in this regard. Thyroidectomy, as early as the neonatal period, may be indicated in patients with MEN2B identified by genetic screening.

Case Presentation: We reported a 24-year-old male presented to the emergency department with dyspnea for the past 3 months. There was a nodule 3*3 cm in the Right Lower Lobe (RLL) of the thyroid gland. Non-contrast Computer Tomography (CT) scan of the lung revealed multiple nodular lesions compatible with metastasis. The Fine Needle Aspiration (FNA) cytology of the thyroid nodule indicated that the features of medullary thyroid carcinoma were positive stains in Immunohistochemistry (IHC) for calcitonin. A diagnosis of pulmonary metastatic medullary thyroid carcinoma, as a presenting feature of MEN2B, was made. The
patient was treated with Vandetanib.

Conclusion: In the reported MEN2B patient, MTC occurred in the early stages of life and was
multifocal. Thus, it is crucial to diagnose medullary thyroid cancer at the early stages of the disease.

References

[1] American Thyroid Association Guidelines Task Force, Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, et al. Medullary thyroid cancer: Management guidelines of the American Thyroid Association. Thyroid. 2009; 19(6):565-612. [DOI:10.1089/thy.2008.0403] [PMID]
[2] Thosani S, Ayala-Ramirez M, Palmer L, Hu MI, Rich T, Gagel RF, et al. The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2. The Journal of Clinical Endocrinology & Metabolism. 2013; 98(11):E1813-E9. [DOI:10.1210/jc.2013-1653] [PMID] [PMCID]
[3] Machens A, Lorenz K, Dralle H. Peak incidence of pheochromocytoma and primary hyperparathyroidism in multiple endocrine neoplasia 2: Need for age-adjusted biochemical screening. The Journal of Clinical Endocrinology & Metabolism. 2013; 98(2):E336-E45. [DOI:10.1210/jc.2012-3192] [PMID]
[4] Wells SA Jr, 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. 2015; 25(6):567- 610. [DOI:10.1089/thy.2014.0335] [PMID] [PMCID]
[5] Dourisboure RJ, Belli S, Domenichini E, Podestá EJ, Eng C, Solano AR. Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma. Thyroid. 2005; 15(7):668-71. [DOI:10.1089/thy.2005.15.668] [PMID]
[6] O’Riordain DS, O’Brien T, Crotty TB, Gharib H, Grant CS, van Heerden JA. Multiple endocrine neoplasia type 2B: More than an endocrine disorder. Surgery. 1995; 118(6):936-42. [ DOI:10.1016/ S0039-6060(05)80097-2]
[7] Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. The Journal of Clinical Endocrinology and Metabolism. 2001; 86(12):5658-71. [DOI:10.1210/jcem.86.12.8070] [PMID]
Published
2020-08-30
How to Cite
1.
Esfandbod M, Shateri amiri B, Taslimi R. Metastatic Medullary Thyroid Carcinoma as a Presenting Feature of Multiple Endocrine Neoplasia 2B: A Case Report and Literature Review. CRCP. 5(2):55-57.
Section
Case Report(s)