PMID- 17823710
OWN - NLM
STAT- MEDLINE
DCOM- 20080215
LR  - 20220629
IS  - 1807-5932 (Print)
IS  - 1807-5932 (Linking)
VI  - 62
IP  - 4
DP  - 2007 Aug
TI  - The impact of clinical and genetic screenings on the management of the multiple 
      endocrine neoplasia type 1.
PG  - 465-76
AB  - PURPOSE: To perform clinical and genetic screening for multiple endocrine 
      neoplasia type 1 (MEN1) in patients at the Academic Hospital of the University of 
      Sao Paulo School of Medicine, and to analyze its impact on clinical management of 
      patients with MEN1. METHODS: The clinical diagnosis of MEN1 was made in 
      accordance with the Consensus on multiple endocrine neoplasias. Mutation analysis 
      of the entire MEN1 tumor suppressor gene and genetic screening of at-risk family 
      members were performed by direct sequencing. To analyze the implementation of 
      genetic diagnosis, the studied patients were separated into 3 groups: MEN1 index 
      cases (group I), clinically diagnosed MEN1 cases (group II), and genetically 
      diagnosed MEN1 cases (group III). RESULTS: In total, 154 individuals were 
      clinically and genetically studied. We identified 12 different MEN1 mutations. 
      Fifty-two MEN1 cases were identified: 13 in group I, 28 in group II, and 11 in 
      group III. The mean age in group III (27.0 years) was significantly lower than in 
      groups I (39.5 years) and II (42.4 years; P = 0.03 and P = 0.01, respectively). 
      Patients in groups I and II mostly presented 2 or 3 MEN1-related tumors, while 
      81.8% of those in group III presented 1 or no MEN1-related tumor. Additionally, 
      in group III, 45.4% of cases were asymptomatic, and no metastasis or death was 
      verified. Surveillance for MEN1 mutations allowed the exclusion of 102 
      noncarriers, including a case of MEN1 phenocopy. CONCLUSION: Our data supports 
      the benefits of clinical and genetic screening for multiple endocrine neoplasia 
      type 1 in the management of this syndrome.
FAU - Lourenco, Delmar Muniz Jr
AU  - Lourenco DM Jr
AD  - Unidade de Endocrinologia Genetica, LIM-25, Endocrinlologia, Hospital das 
      Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, 
      Brasil.
FAU - Toledo, Rodrigo Almeida
AU  - Toledo RA
FAU - Coutinho, Flavia Lima
AU  - Coutinho FL
FAU - Margarido, Leontina Conceicao
AU  - Margarido LC
FAU - Siqueira, Sheila Aparecida Coelho
AU  - Siqueira SA
FAU - dos Santos, Marcelo Augusto Cortina Goncalves
AU  - dos Santos MA
FAU - Montenegro, Fabio Luiz de Menezes
AU  - Montenegro FL
FAU - Machado, Marcel Cerqueira Cesar
AU  - Machado MC
FAU - Toledo, Sergio Pereira Almeida
AU  - Toledo SP
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Clinics (Sao Paulo)
JT  - Clinics (Sao Paulo, Brazil)
JID - 101244734
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Follow-Up Studies
MH  - Genetic Predisposition to Disease
MH  - *Genetic Testing
MH  - Germ-Line Mutation
MH  - Humans
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - *Mutation
MH  - Polymerase Chain Reaction
MH  - Prevalence
MH  - Proto-Oncogene Proteins/*genetics
MH  - Risk Factors
EDAT- 2007/09/08 09:00
MHDA- 2008/02/19 09:00
CRDT- 2007/09/08 09:00
PHST- 2007/07/05 00:00 [received]
PHST- 2007/07/07 00:00 [accepted]
PHST- 2007/09/08 09:00 [pubmed]
PHST- 2008/02/19 09:00 [medline]
PHST- 2007/09/08 09:00 [entrez]
AID - S1807-5932(22)03091-5 [pii]
PST - ppublish
SO  - Clinics (Sao Paulo). 2007 Aug;62(4):465-76.