PMID- 35247589
OWN - NLM
STAT- MEDLINE
DCOM- 20220517
LR  - 20220517
IS  - 1530-891X (Print)
IS  - 1530-891X (Linking)
VI  - 28
IP  - 5
DP  - 2022 May
TI  - The Importance of Periodical Screening for Primary Hyperparathyroidism in a 
      Pituitary Tumor Cohort in Searching Patients With MEN1 and Its Genetic Profile.
PG  - 509-514
LID - S1530-891X(22)00065-9 [pii]
LID - 10.1016/j.eprac.2022.02.010 [doi]
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome 
      characterized by parathyroid, anterior pituitary, and/or duodenopancreatic 
      neuroendocrine tumors. Studies have indicated that investigating primary 
      hyperparathyroidism (pHPT) with subsequent genetic screening may be an essential 
      tool for the early diagnosis of MEN1 in patients with pituitary tumors (PTs). 
      This study aimed to investigate the presence of pHPT in patients with PTs and, 
      subsequently, to screen for genetic mutations and related tumors in patients with 
      MEN1 syndrome. METHODS: This study included 255 patients with PTs who were 
      assessed for the presence of MEN1 by serum calcium and parathyroid hormone 
      measurements. Mutation screening of the MEN1, CDKN1B, and AIP genes was performed 
      in the index cases showing the MEN1 phenotype. RESULTS: Five patients with PTs 
      presented a clinical condition compatible with MEN1. These patients had a younger 
      age of onset and a more severe clinical condition. Genetic analysis identified a 
      frameshift mutation in the MEN1 gene in one of the cases with the MEN1 phenotype, 
      but point mutations in CDKN1B and AIP were not detected in any of these patients. 
      CONCLUSION: Our results show that periodic screening for pHPT in patients with 
      PTs may be useful to detect MEN1 syndrome; thus, it is recommended in those 
      patients with both findings a genetic analysis of MEN1 gene and an additional 
      search of related tumors. By contrast, our data suggest that CDKN1B and AIP 
      mutations do not seem to play a relevant role in the pathogenesis of MEN1.
CI  - Copyright (c) 2022 AACE. Published by Elsevier Inc. All rights reserved.
FAU - Damianse, Sabrina S P
AU  - Damianse SSP
AD  - Service of Endocrinology, Presidente Dutra University Hospital of the Federal 
      University of Maranhao (HUUFMA), Brasilian Hospital Services Company (EBSERH), 
      Sao Luis, Brazil; Research Group in Clinical and Molecular Endocrinology and 
      Metabology (ENDOCLIM), Sao Luis, Brazil; Clinical Research Center (CEPEC), 
      Presidente Dutra University Hospital of the Federal University of Maranhao 
      (HUUFMA) Brasilian Hospital Services Company (EBSERH), Sao Luis, Brazil; 
      Postgraduate Program in Adult Health (PPGSAD), Federal University of Maranhao 
      (UFMA), Sao Luis, Brazil.
FAU - Nascimento, Gilvan C
AU  - Nascimento GC
AD  - Service of Endocrinology, Presidente Dutra University Hospital of the Federal 
      University of Maranhao (HUUFMA), Brasilian Hospital Services Company (EBSERH), 
      Sao Luis, Brazil; Research Group in Clinical and Molecular Endocrinology and 
      Metabology (ENDOCLIM), Sao Luis, Brazil; Clinical Research Center (CEPEC), 
      Presidente Dutra University Hospital of the Federal University of Maranhao 
      (HUUFMA) Brasilian Hospital Services Company (EBSERH), Sao Luis, Brazil.
FAU - Rocha, Viviane C C
AU  - Rocha VCC
AD  - Service of Endocrinology, Presidente Dutra University Hospital of the Federal 
      University of Maranhao (HUUFMA), Brasilian Hospital Services Company (EBSERH), 
      Sao Luis, Brazil; Research Group in Clinical and Molecular Endocrinology and 
      Metabology (ENDOCLIM), Sao Luis, Brazil; Clinical Research Center (CEPEC), 
      Presidente Dutra University Hospital of the Federal University of Maranhao 
      (HUUFMA) Brasilian Hospital Services Company (EBSERH), Sao Luis, Brazil.
FAU - Nascimento, Ana Giselia P A C
AU  - Nascimento AGPAC
AD  - Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), 
      Sao Luis, Brazil; Clinical Research Center (CEPEC), Presidente Dutra University 
      Hospital of the Federal University of Maranhao (HUUFMA) Brasilian Hospital 
      Services Company (EBSERH), Sao Luis, Brazil; Pathology Unit, Presidente Dutra 
      University Hospital of the Federal University of Maranhao (HUUFMA), Sao Luis, 
      Brazil.
FAU - Gaido, Nadja C
AU  - Gaido NC
AD  - Pathology Unit, Presidente Dutra University Hospital of the Federal University of 
      Maranhao (HUUFMA), Sao Luis, Brazil.
FAU - Azulay, Rossana S S
AU  - Azulay RSS
AD  - Service of Endocrinology, Presidente Dutra University Hospital of the Federal 
      University of Maranhao (HUUFMA), Brasilian Hospital Services Company (EBSERH), 
      Sao Luis, Brazil; Research Group in Clinical and Molecular Endocrinology and 
      Metabology (ENDOCLIM), Sao Luis, Brazil; Clinical Research Center (CEPEC), 
      Presidente Dutra University Hospital of the Federal University of Maranhao 
      (HUUFMA) Brasilian Hospital Services Company (EBSERH), Sao Luis, Brazil.
FAU - Dos Santos, Wellyandra C
AU  - Dos Santos WC
AD  - Clinical Research Center (CEPEC), Presidente Dutra University Hospital of the 
      Federal University of Maranhao (HUUFMA) Brasilian Hospital Services Company 
      (EBSERH), Sao Luis, Brazil; Postgraduate Program in Adult Health (PPGSAD), 
      Federal University of Maranhao (UFMA), Sao Luis, Brazil.
FAU - Rodrigues, Vandilson P
AU  - Rodrigues VP
AD  - Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), 
      Sao Luis, Brazil; Clinical Research Center (CEPEC), Presidente Dutra University 
      Hospital of the Federal University of Maranhao (HUUFMA) Brasilian Hospital 
      Services Company (EBSERH), Sao Luis, Brazil; Department of Morphology, Federal 
      University of Maranhao (UFMA), Sao Luis, Brazil.
FAU - Quidute, Ana Rosa P
AU  - Quidute ARP
AD  - Department of Physiology and Pharmacology, Federal University of Ceara (UFC), 
      Fortaleza, Brazil.
FAU - Magalhaes, Marcelo
AU  - Magalhaes M
AD  - Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), 
      Sao Luis, Brazil; Clinical Research Center (CEPEC), Presidente Dutra University 
      Hospital of the Federal University of Maranhao (HUUFMA) Brasilian Hospital 
      Services Company (EBSERH), Sao Luis, Brazil; Research and Extension Nucleus 
      (NUPE), UNDB University Center, Sao Luis, Brazil.
FAU - Dos S Faria, Manuel
AU  - Dos S Faria M
AD  - Service of Endocrinology, Presidente Dutra University Hospital of the Federal 
      University of Maranhao (HUUFMA), Brasilian Hospital Services Company (EBSERH), 
      Sao Luis, Brazil; Research Group in Clinical and Molecular Endocrinology and 
      Metabology (ENDOCLIM), Sao Luis, Brazil; Clinical Research Center (CEPEC), 
      Presidente Dutra University Hospital of the Federal University of Maranhao 
      (HUUFMA) Brasilian Hospital Services Company (EBSERH), Sao Luis, Brazil. 
      Electronic address: mfaria1949@gmail.com.
LA  - eng
PT  - Journal Article
DEP - 20220302
PL  - United States
TA  - Endocr Pract
JT  - Endocrine practice : official journal of the American College of Endocrinology 
      and the American Association of Clinical Endocrinologists
JID - 9607439
SB  - IM
MH  - Genetic Profile
MH  - Humans
MH  - *Hyperparathyroidism, Primary/diagnosis/genetics/pathology
MH  - *Multiple Endocrine Neoplasia Type 1/complications/genetics
MH  - Mutation
MH  - *Pituitary Neoplasms/complications/genetics
OTO - NOTNLM
OT  - MEN1
OT  - duodenopancreatic tumors
OT  - hypercalcemia
OT  - molecular analysis
OT  - pituitary tumors
OT  - primary hyperparathyroidism
EDAT- 2022/03/06 06:00
MHDA- 2022/05/18 06:00
CRDT- 2022/03/05 20:12
PHST- 2021/10/19 00:00 [received]
PHST- 2022/02/21 00:00 [revised]
PHST- 2022/02/23 00:00 [accepted]
PHST- 2022/03/06 06:00 [pubmed]
PHST- 2022/05/18 06:00 [medline]
PHST- 2022/03/05 20:12 [entrez]
AID - S1530-891X(22)00065-9 [pii]
AID - 10.1016/j.eprac.2022.02.010 [doi]
PST - ppublish
SO  - Endocr Pract. 2022 May;28(5):509-514. doi: 10.1016/j.eprac.2022.02.010. Epub 2022 
      Mar 2.