PMID- 32801775
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 1178-6930 (Print)
IS  - 1178-6930 (Electronic)
IS  - 1178-6930 (Linking)
VI  - 13
DP  - 2020
TI  - Medullary Thyroid Carcinoma in a Patient with MEN 1 Syndrome. Case Report and 
      Literature Review.
PG  - 7599-7603
LID - 10.2147/OTT.S259656 [doi]
AB  - 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.
CI  - (c) 2020 Friziero et al.
FAU - Friziero, Alberto
AU  - Friziero A
AUID- ORCID: 0000-0003-0431-6566
AD  - Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, 
      University of Padua, Padua, Italy.
FAU - Da Dalt, Gianfranco
AU  - Da Dalt G
AUID- ORCID: 0000-0002-4246-9128
AD  - Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, 
      University of Padua, Padua, Italy.
FAU - Piotto, Andrea
AU  - Piotto A
AD  - Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, 
      University of Padua, Padua, Italy.
FAU - Serafini, Simone
AU  - Serafini S
AUID- ORCID: 0000-0001-8392-7714
AD  - Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, 
      University of Padua, Padua, Italy.
FAU - Grego, Andrea
AU  - Grego A
AUID- ORCID: 0000-0002-7217-3184
AD  - Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, 
      University of Padua, Padua, Italy.
FAU - Galuppini, Francesca
AU  - Galuppini F
AUID- ORCID: 0000-0002-3245-2322
AD  - Department of Woman's and Children's Health-SDB, University of Padua, Padua, 
      Italy.
FAU - Pennelli, Gianmaria
AU  - Pennelli G
AUID- ORCID: 0000-0003-0210-165X
AD  - Department of Medicine-DIMED, Pathology Unit, University of Padua, Padua, Italy.
FAU - Sperti, Cosimo
AU  - Sperti C
AUID- ORCID: 0000-0002-7869-8715
AD  - Department of Surgery, Oncology and Gastroenterology-DISCOG, 3rd Surgical Clinic, 
      University of Padua, Padua, Italy.
LA  - eng
PT  - Case Reports
DEP - 20200731
PL  - New Zealand
TA  - Onco Targets Ther
JT  - OncoTargets and therapy
JID - 101514322
PMC - PMC7402866
OTO - NOTNLM
OT  - MEN 1 gene
OT  - RET gene
OT  - multiple endocrine neoplasia type 1
OT  - multiple endocrine neoplasia type 2
OT  - thyroid cancer
OT  - thyroidectomy
COIS- The authors report no conflicts of interest.
EDAT- 2020/08/18 06:00
MHDA- 2020/08/18 06:01
PMCR- 2020/07/31
CRDT- 2020/08/18 06:00
PHST- 2020/04/24 00:00 [received]
PHST- 2020/06/30 00:00 [accepted]
PHST- 2020/08/18 06:00 [entrez]
PHST- 2020/08/18 06:00 [pubmed]
PHST- 2020/08/18 06:01 [medline]
PHST- 2020/07/31 00:00 [pmc-release]
AID - 259656 [pii]
AID - 10.2147/OTT.S259656 [doi]
PST - epublish
SO  - Onco Targets Ther. 2020 Jul 31;13:7599-7603. doi: 10.2147/OTT.S259656. 
      eCollection 2020.