PMID- 17853334
OWN - NLM
STAT- MEDLINE
DCOM- 20071113
LR  - 20070913
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 115
IP  - 8
DP  - 2007 Sep
TI  - Developing effective screening strategies in multiple endocrine neoplasia type 1 
      (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 
      1.
PG  - 509-17
AB  - BACKGROUND: Multiple-endocrine-neoplasia-type-1 (MEN1) is an autosomal-dominant 
      inherited disorder characterized by the combined occurrence of primary 
      hyperparathyroidism (pHPT), gastroenteropancreatic neuroendocrine tumors (GEP), 
      adenomas of the pituitary gland (APA), adrenal cortical tumors (ADR) and other 
      tumors. As the tumors appear in an unpredictable schedule, uncertainty about 
      screening programs is persisting. OBJECTIVE: To optimize screening and to analyze 
      possible differences in sporadic versus familial cases. METHODS: We analyzed data 
      of 419 individuals including 306 MEN-1 patients (138 isolated and168 familial 
      cases out of 102 unrelated families). RESULTS: A total of 683 tumors occurred 
      consisting of 273 pHPT, 138 APA, 166 GEP, 57 ADR, 24 thymic- and 
      bronchial-carcinoids as well as 25 neoplasms of other tissues. The age-related 
      penetrance was determined as 10%, 35%, 67%, 81% and 100% at 20, 30, 40, 50 and 65 
      years respectively. Although pHPT being the most frequent first manifestation 
      (41%), also GEP (22%) or APA (21%) were found to be the first presentation. APA 
      occurred significantly more frequent (p<0,05) in isolated (n=138) than in 
      familial (n=168) cases, whereas GEP showed a tendency to occur more often in 
      familial cases. Genotype/phenotype correlation in 140 clinically affected MEN-1 
      cases showed a tendency for truncating mutations, especially nonsense mutations 
      to be associated to GEP and carcinoids of the lungs and thymus. CONCLUSION: In 
      view of the morbidity and frequency in familial cases an effective screening 
      programme should aim at an early diagnosis of GEP particularly when truncating, 
      especially nonsense mutations are found.
FAU - Schaaf, L
AU  - Schaaf L
AD  - Endocrinology and Clinical Chemistry, Max-Planck-Institute of Psychiatry, 
      Kraepelinstrasse 10, 80804 Munich, Germany. schaaf@mpipsykl.mpg.de
FAU - Pickel, J
AU  - Pickel J
FAU - Zinner, K
AU  - Zinner K
FAU - Hering, U
AU  - Hering U
FAU - Hofler, M
AU  - Hofler M
FAU - Goretzki, P E
AU  - Goretzki PE
FAU - Spelsberg, F
AU  - Spelsberg F
FAU - Raue, F
AU  - Raue F
FAU - von zur Muhlen, A
AU  - von zur Muhlen A
FAU - Gerl, H
AU  - Gerl H
FAU - Hensen, J
AU  - Hensen J
FAU - Bartsch, D K
AU  - Bartsch DK
FAU - Rothmund, M
AU  - Rothmund M
FAU - Schneyer, U
AU  - Schneyer U
FAU - Dralle, H
AU  - Dralle H
FAU - Engelbach, M
AU  - Engelbach M
FAU - Karges, W
AU  - Karges W
FAU - Stalla, G K
AU  - Stalla GK
FAU - Hoppner, W
AU  - Hoppner W
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - DNA/blood/genetics
MH  - Female
MH  - Genotype
MH  - Germany/epidemiology
MH  - Humans
MH  - Male
MH  - Mass Screening/*methods
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*epidemiology/genetics
MH  - Nuclear Family
MH  - Phenotype
MH  - Polymerase Chain Reaction
EDAT- 2007/09/14 09:00
MHDA- 2007/11/14 09:00
CRDT- 2007/09/14 09:00
PHST- 2007/09/14 09:00 [pubmed]
PHST- 2007/11/14 09:00 [medline]
PHST- 2007/09/14 09:00 [entrez]
AID - 10.1055/s-2007-970160 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2007 Sep;115(8):509-17. doi: 10.1055/s-2007-970160.