PMID- 36967793
OWN - NLM
STAT- MEDLINE
DCOM- 20230328
LR  - 20230328
IS  - 1664-2392 (Print)
IS  - 1664-2392 (Electronic)
IS  - 1664-2392 (Linking)
VI  - 14
DP  - 2023
TI  - Clinical and molecular features of four Brazilian families with multiple 
      endocrine neoplasia type 1.
PG  - 1117873
LID - 10.3389/fendo.2023.1117873 [doi]
LID - 1117873
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      syndrome characterized by its clinical variability and complexity in diagnosis 
      and treatment. We performed both clinical and molecular descriptions of four 
      families with MEN1 in a follow-up at a tertiary center in Brasilia. METHODS: From 
      a preliminary review of approximately 500 medical records of patients with 
      pituitary neuroendocrine tumor (PitNET) from the database of the 
      Neuroendocrinology Outpatient Clinic of the University Hospital of Brasilia, a 
      total of 135 patients met the criteria of at least two affected family members. 
      From this cohort, we have identified 34 families: only four with a phenotype of 
      MEN1 and the other 30 families with the phenotype of familial isolated pituitary 
      adenoma (FIPA). Eleven patients with a clinical diagnosis of MEN1 from these four 
      families were selected. RESULTS: Variants in MEN1 gene were identified in all 
      families. One individual from each family underwent genetic testing using 
      targeted high-throughput sequencing (HTS). All patients had primary 
      hyperparathyroidism (PHPT), and the second most common manifestation was PitNET. 
      One individual had well-differentiated liposarcoma, which has been previously 
      reported in a single case of MEN1. Three variants previously described in the 
      database and a novel variant in exon 2 have been found. CONCLUSIONS: The study 
      allowed the genotypic and phenotypic characterization of families with MEN1 in a 
      follow-up at a tertiary center in Brasilia.
CI  - Copyright (c) 2023 Miranda, Valadares, Barra, Mesquita, de Santana, de Castro, Rita 
      and Naves.
FAU - Miranda, Isabella Santiago de Melo
AU  - Miranda ISM
AD  - Section of Endocrinology, University Hospital of Brasilia, Brasilia, Brazil.
FAU - Valadares, Luciana Pinto
AU  - Valadares LP
AD  - SARAH Network Rehabilitation Hospitals, Brasilia, Brazil.
FAU - Barra, Gustavo Barcelos
AU  - Barra GB
AD  - Genomics Section, Sabin Medicina Diagnostica, Brasilia, Brazil.
FAU - Mesquita, Pedro Goes
AU  - Mesquita PG
AD  - Genomics Section, Sabin Medicina Diagnostica, Brasilia, Brazil.
FAU - de Santana, Lidiana Bandeira
AU  - de Santana LB
AD  - Section of Endocrinology, University Hospital of Brasilia, Brasilia, Brazil.
FAU - de Castro, Lucas Faria
AU  - de Castro LF
AD  - Section of Endocrinology, University Hospital of Brasilia, Brasilia, Brazil.
FAU - Rita, Ticiane Henriques Santa
AU  - Rita THS
AD  - Genomics Section, Sabin Medicina Diagnostica, Brasilia, Brazil.
FAU - Naves, Luciana Ansaneli
AU  - Naves LA
AD  - Section of Endocrinology, University Hospital of Brasilia, Brasilia, Brazil.
LA  - eng
PT  - Journal Article
DEP - 20230310
PL  - Switzerland
TA  - Front Endocrinol (Lausanne)
JT  - Frontiers in endocrinology
JID - 101555782
SB  - IM
MH  - Humans
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics/pathology
MH  - Brazil/epidemiology
MH  - *Growth Hormone-Secreting Pituitary Adenoma/genetics
MH  - *Pituitary Neoplasms/diagnosis/genetics/pathology
MH  - *Neuroendocrine Tumors
PMC - PMC10036827
OTO - NOTNLM
OT  - gastroenteropancreatic tumor
OT  - menin gene
OT  - molecular test
OT  - multiple endocrine neoplasia type 1
OT  - pituitary adenoma
OT  - primary hyperparathyroidism
OT  - variants
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/03/28 06:00
MHDA- 2023/03/28 19:05
PMCR- 2023/01/01
CRDT- 2023/03/27 03:16
PHST- 2022/12/07 00:00 [received]
PHST- 2023/02/20 00:00 [accepted]
PHST- 2023/03/28 19:05 [medline]
PHST- 2023/03/27 03:16 [entrez]
PHST- 2023/03/28 06:00 [pubmed]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fendo.2023.1117873 [doi]
PST - epublish
SO  - Front Endocrinol (Lausanne). 2023 Mar 10;14:1117873. doi: 
      10.3389/fendo.2023.1117873. eCollection 2023.