PMID- 10598193
OWN - NLM
STAT- MEDLINE
DCOM- 20000104
LR  - 20190915
IS  - 0039-6060 (Print)
IS  - 0039-6060 (Linking)
VI  - 126
IP  - 6
DP  - 1999 Dec
TI  - Screening for MEN1 mutations in patients with atypical endocrine neoplasia.
PG  - 1097-103; discussion 1103-4
AB  - BACKGROUND: Most patients from typical multiple endocrine neoplasia type 1 (MEN1) 
      kindreds harbor mutations in the MEN-1 gene, MEN1. We hypothesized that some 
      patients with atypical endocrine neoplasia would also have mutations in MEN1. 
      METHODS: DNA sequencing analysis of mutations in the coding region of MEN1 was 
      performed with genomic DNA obtained from peripheral blood lymphocytes in a total 
      of 21 patients who had: typical MEN1 (n = 8), clinical features suggestive of 
      MEN1 but without a family history of endocrinopathy (n = 7), and atypical 
      endocrine neoplasia and a family history of endocrinopathy suggestive of MEN1 (n 
      = 6). RESULTS: All 8 patients with typical MEN1 had mutations in MEN1. None of 
      the 7 patients with features of MEN1, but without a family history of 
      endocrinopathy, had a MEN1 mutation. In contrast, 4 of 6 patients with atypical 
      endocrine neoplasia that included components of MEN1 and a family history of 
      endocrinopathy had mutations in MEN1, including 2 patients with pheochromocytoma. 
      CONCLUSIONS: Genomic mutations in MEN1 may frequently be identified in patients 
      with atypical endocrine neoplasia, especially in the setting of a family history 
      of endocrinopathy. Atypical presentations of MEN1 may include pheochromocytoma.
FAU - Dackiw, A P
AU  - Dackiw AP
AD  - Department of Surgical Oncology, University of Texas M.D. Anderson Cancer Center, 
      Houston 77030, USA.
FAU - Cote, G J
AU  - Cote GJ
FAU - Fleming, J B
AU  - Fleming JB
FAU - Schultz, P N
AU  - Schultz PN
FAU - Stanford, P
AU  - Stanford P
FAU - Vassilopoulou-Sellin, R
AU  - Vassilopoulou-Sellin R
FAU - Evans, D B
AU  - Evans DB
FAU - Gagel, R F
AU  - Gagel RF
FAU - Lee, J E
AU  - Lee JE
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Surgery
JT  - Surgery
JID - 0417347
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adrenal Gland Neoplasms/diagnostic imaging/*genetics
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - *Genetic Testing
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/diagnostic imaging/*genetics
MH  - Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Pancreatic Neoplasms/diagnostic imaging/genetics
MH  - Pedigree
MH  - Pheochromocytoma/diagnostic imaging/*genetics
MH  - *Proto-Oncogene Proteins
MH  - Radiography
MH  - Restriction Mapping
EDAT- 1999/12/22 00:00
MHDA- 1999/12/22 00:01
CRDT- 1999/12/22 00:00
PHST- 1999/12/22 00:00 [pubmed]
PHST- 1999/12/22 00:01 [medline]
PHST- 1999/12/22 00:00 [entrez]
AID - S0039-6060(99)70067-X [pii]
AID - 10.1067/msy.2099.101376 [doi]
PST - ppublish
SO  - Surgery. 1999 Dec;126(6):1097-103; discussion 1103-4. doi: 
      10.1067/msy.2099.101376.