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Medullary Thyroid Carcinoma in a Patient with MEN 1 Syndrome. Case Report and Literature Review

Authors Friziero A, Da Dalt G, Piotto A, Serafini S, Grego A, Galuppini F, Pennelli G, Sperti C

Received 24 April 2020

Accepted for publication 30 June 2020

Published 31 July 2020 Volume 2020:13 Pages 7599—7603

DOI https://doi.org/10.2147/OTT.S259656

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Dr Leo Jen-Liang Su


Alberto Friziero,1 Gianfranco Da Dalt,1 Andrea Piotto,1 Simone Serafini,1 Andrea Grego,1 Francesca Galuppini,2 Gianmaria Pennelli,3 Cosimo Sperti1

1Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, University of Padua, Padua, Italy; 2Department of Woman’s and Children’s Health-SDB, University of Padua, Padua, Italy; 3Department of Medicine-DIMED, Pathology Unit, University of Padua, Padua, Italy

Correspondence: Cosimo Sperti
Department of Surgery, Oncology and Gastroenterology, 3 rd Surgical Clinic, University of Padua, via Giustiniani 2, Padova 35128, Italy
Tel +39 0498218845
Fax +39 0498218821
Email csperti@libero.it

Abstract: Medullary thyroid cancer (MTC) is typically associated with multiple endocrine neoplasia type 2 syndrome (MEN 2), but not with multiple endocrine neoplasia type 1 (MEN 1). We report a very rare case of MTC in a patient with MEN 1 syndrome. A 60-year-old Caucasian woman with sporadic MEN 1 syndrome was admitted in October 2018 for recurrent hyperparathyroidism unresponsive to medical therapy. Her medical history included the diagnosis of a non-functioning pancreatic neuroendocrine tumor (NF-pNET) of the head of the pancreas 1.5 cm in size in 2001, and subtotal parathyroidectomy for uncontrolled hyperparathyroidism due to bilateral parathyroid hyperplasia in the same year. This history prompted genetic studies, and MEN 1 syndrome was confirmed. Family screening was performed in first-degree relatives, with negative results. Other typical clinical manifestations of MEN 1 syndrome were ruled out. In November 2018, the patient underwent excision of the residual left inferior parathyroid, extended to include the left thyroid lobe, for recurrent uncontrolled hyperparathyroidism. The pathologist identified MTC and adenoma of the parathyroid gland. Genetic tests were performed to identify any RET mutation, with negative results. The patient underwent total thyroidectomy about 6 months later, and the subsequent histological report showed only focal reactive C-cell hyperplasia of the thyroid. A literature review identified only three previously published cases of MTC coexisting with MEN 1 syndrome. This association may have two etiological hypotheses: either a sporadic MTC arising in a patient with MEN 1 syndrome, or a rare case of medullary cancer linked to a MEN 1 gene mutation.

Keywords: MEN 1 gene, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, RET gene, thyroid cancer, thyroidectomy

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