PMID- 15292304
OWN - NLM
STAT- MEDLINE
DCOM- 20040903
LR  - 20220408
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 89
IP  - 8
DP  - 2004 Aug
TI  - Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare 
      gastrinoma.
PG  - 3776-84
AB  - No variant of multiple endocrine neoplasia type 1 (MEN1) has been reproducible 
      among families. We examined two large kindreds with MEN1 variants, and we 
      compared these to past reports. The two kindreds were followed up for 20-30 yr 
      with MEN1 tumors in 30 members. Results in cases from two kindreds were that 93% 
      showed parathyroid adenoma, 40% pituitary tumor (always prolactinoma), and 27% 
      enteropancreatic endocrine tumor. The latter included 10% insulinoma, 7% 
      nonfunctioning islet tumor, but only 10% gastrinoma. Compared with prior large 
      series, this lower prevalence of gastrinoma (10% vs. 42%, P < 0.01) and higher 
      prevalence of prolactinoma (40% vs. 22%, P < 0.01) define this variant. Many 
      possible biases of retrospective analyses were excluded as possible explanations. 
      Previously sequenced DNA showed no characteristic MEN1 mutation in these two 
      kindreds and in a third, reported previously; the lack of any shared MEN1 
      mutation also excluded common ancestry for MEN1 among the three kindreds. The 
      causes for differences between this variant and typical MEN1 are unknown. In 
      conclusion, this variant shows more frequent prolactinoma and less frequent 
      gastrinoma than typical MEN1; the variant is reproducible among kindreds. MEN1 
      carriers in such families should have periodic monitoring adjusted for the 
      expected penetrance of tumors.
FAU - Hao, Wei
AU  - Hao W
AD  - Metabolic Diseases Branch, National Institute of Diabetes and Digestive and 
      Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.
FAU - Skarulis, Monica C
AU  - Skarulis MC
FAU - Simonds, William F
AU  - Simonds WF
FAU - Weinstein, Lee S
AU  - Weinstein LS
FAU - Agarwal, Sunita K
AU  - Agarwal SK
FAU - Mateo, Carmen
AU  - Mateo C
FAU - James-Newton, Laura
AU  - James-Newton L
FAU - Hobbs, Gerald R
AU  - Hobbs GR
FAU - Gibril, Fathia
AU  - Gibril F
FAU - Jensen, Robert T
AU  - Jensen RT
FAU - Marx, Stephen J
AU  - Marx SJ
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
SB  - IM
MH  - Adenoma/complications/genetics
MH  - Adolescent
MH  - Adult
MH  - Age Distribution
MH  - Cohort Studies
MH  - Female
MH  - Gastrinoma/epidemiology/*genetics
MH  - *Genetic Variation
MH  - Heterozygote
MH  - Humans
MH  - Longitudinal Studies
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pancreatic Neoplasms/epidemiology/*genetics
MH  - Parathyroid Neoplasms/complications/genetics
MH  - Pedigree
MH  - Pituitary Neoplasms/complications/epidemiology/*genetics
MH  - Prevalence
MH  - Prolactinoma/complications/epidemiology/*genetics
EDAT- 2004/08/05 05:00
MHDA- 2004/09/04 05:00
CRDT- 2004/08/05 05:00
PHST- 2004/08/05 05:00 [pubmed]
PHST- 2004/09/04 05:00 [medline]
PHST- 2004/08/05 05:00 [entrez]
AID - 89/8/3776 [pii]
AID - 10.1210/jc.2003-031511 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2004 Aug;89(8):3776-84. doi: 10.1210/jc.2003-031511.