CC BY 4.0 · World J Nucl Med 2025; 24(01): 075-077
DOI: 10.1055/s-0044-1791818
Case Report

Rare Combination of Multiple Endocrine Neoplasia 1 with Medullary Thyroid Carcinoma and Clinical Value of 68Ga-DOTATATE PET/CT in Diagnosing Different Lesions and Exploring Theranostic Strategy

Parth Baberwal
1   Radiation Medicine Centre, Bhabha Atomic Research Centre, Tata Memorial Hospital Annexe, Mumbai, Maharashtra, India
2   Homi Bhabha National Institute, Mumbai, Maharashtra, India
,
Rahul V. Parghane
1   Radiation Medicine Centre, Bhabha Atomic Research Centre, Tata Memorial Hospital Annexe, Mumbai, Maharashtra, India
2   Homi Bhabha National Institute, Mumbai, Maharashtra, India
,
1   Radiation Medicine Centre, Bhabha Atomic Research Centre, Tata Memorial Hospital Annexe, Mumbai, Maharashtra, India
2   Homi Bhabha National Institute, Mumbai, Maharashtra, India
› Author Affiliations

Abstract

Multiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by the presence of hyperplastic or neoplastic tumors in the parathyroid, pituitary, and gastroenteropancreatic endocrine tissues. The presence of lesions in at least two out of the three glands (pituitary, parathyroid, and pancreas) is indicative of MEN1 syndrome. Medullary thyroid carcinoma (MTC) is a type of tumor that originates from the parafollicular C cells of the thyroid gland. It is frequently found as part of MEN2 syndrome. MEN1 with MTC is a relatively uncommon occurrence. We report a rare case of MTC that later on developed parathyroid carcinoma, pituitary microadenoma, pancreatic neuroendocrine tumor (NET), and duodenal NET. The case was identified as part of MEN1 syndrome using exome sequencing and somatostatin receptor–based functional imaging 68Ga-DOTATATE positron emission tomography/computed tomography was employed for exploring theranostic strategy in the management of the patient.



Publication History

Article published online:
25 October 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Trump D, Farren B, Wooding C. et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM 1996; 89 (09) 653-669
  • 2 Al-Salameh A, Baudry C, Cohen R. Update on multiple endocrine neoplasia type 1 and 2. Presse Med 2018; 47 (09) 722-731
  • 3 Bohacek L. Medullary thyroid carcinoma in a patient with MEN 1. J Surg Oncol 2014; 110 (07) 899-900
  • 4 Aranda Velazquez GB, Porta MM, Martínez D, Oriola J, Halperin Rabinovich I. Medullary thyroid carcinoma as manifestation of the loss of heterozygosity in a patient with MEN1. Endocrinol Nutr 2016; 63 (07) 371-373
  • 5 Cetani F, Pardi E, Berardi V, Romei C, Marcocci C, Elisei R. Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations. J Surg Oncol 2017; 116 (08) 1197-1199
  • 6 Friziero A, Da Dalt G, Piotto A. et al. Medullary thyroid carcinoma in a patient with MEN 1 syndrome. case report and literature review. OncoTargets Ther 2020; 13: 7599-7603
  • 7 Thakker RV, Newey PJ, Walls GV. et al; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 2012; 97 (09) 2990-3011
  • 8 Cinque L, Sparaneo A, Salcuni AS. et al. MEN1 gene mutation with parathyroid carcinoma: first report of a familial case. Endocr Connect 2017; 6 (08) 886-891