PMID- 9854591
OWN - NLM
STAT- MEDLINE
DCOM- 19990111
LR  - 20190915
IS  - 0039-6060 (Print)
IS  - 0039-6060 (Linking)
VI  - 124
IP  - 6
DP  - 1998 Dec
TI  - The variable penetrance and spectrum of manifestations of multiple endocrine 
      neoplasia type 1.
PG  - 1106-13; discussion 1113-4
AB  - BACKGROUND: Some experts maintain that (1) > 90% of patients with multiple 
      endocrine neoplasia type 1 (MEN1) are first seen with hyperparathyroidism (HPTH) 
      so that routine screening for other features is unnecessary and (2) MEN1 has > or 
      = 94% penetrance by age 50 years. METHODS: We constructed a regional registry of 
      patients with or at risk for MEN1 and examined phenotypic profiles in 34 
      patients. MEN1 was defined as (1) endocrinopathy of 2 of the 3 principal related 
      tissues (parathyroid, gastrointestinal endocrine, pituitary) or (2) 1 such 
      feature plus a first-degree relative with MEN1. RESULTS: The initial feature of 
      MEN1 was HPTH in 50%, pituitary tumor in 18%, and gastrointestinal endocrine 
      tumor in 32% of patients, with overall incidences of 82%, 65%, and 74%, 
      respectively. HPTH developed by age 50 years in 73% of patients and by age 70 
      years in 83%. Penetrance of MEN1 at age 50 years was 82%. Associated features 
      included renal (1) and rectal (1) cancer, malignant thymic carcinoid (1), and 
      malignant pheochromocytoma (1). CONCLUSIONS: Expression of MEN1 can vary 
      considerably from established patterns. In our geographic region HPTH does not 
      routinely precede other features of MEN1 and cannot be used to distinguish 
      affected patients among those at risk. MEN1 can be inapparent until late in life 
      and may be significantly underdiagnosed.
FAU - Carty, S E
AU  - Carty SE
AD  - Department of Surgery, University of Pittsburgh School of Medicine, Pa. 15261, 
      USA.
FAU - Helm, A K
AU  - Helm AK
FAU - Amico, J A
AU  - Amico JA
FAU - Clarke, M R
AU  - Clarke MR
FAU - Foley, T P
AU  - Foley TP
FAU - Watson, C G
AU  - Watson CG
FAU - Mulvihill, J J
AU  - Mulvihill JJ
LA  - eng
GR  - 5M01RR00056/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Surgery
JT  - Surgery
JID - 0417347
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Cause of Death
MH  - Endocrine Gland Neoplasms/epidemiology
MH  - Gastrointestinal Neoplasms/epidemiology
MH  - Humans
MH  - Hyperparathyroidism/epidemiology/etiology
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/complications/*diagnosis/*genetics/mortality
MH  - Neoplasms, Multiple Primary/epidemiology
MH  - *Penetrance
MH  - Pituitary Neoplasms/epidemiology
MH  - Prospective Studies
RF  - 23
EDAT- 1998/12/17 00:00
MHDA- 1998/12/17 00:01
CRDT- 1998/12/17 00:00
PHST- 1998/12/17 00:00 [pubmed]
PHST- 1998/12/17 00:01 [medline]
PHST- 1998/12/17 00:00 [entrez]
AID - S0039-6060(98)70057-1 [pii]
AID - 10.1067/msy.1998.93107 [doi]
PST - ppublish
SO  - Surgery. 1998 Dec;124(6):1106-13; discussion 1113-4. doi: 10.1067/msy.1998.93107.