PMID- 11246625
OWN - NLM
STAT- MEDLINE
DCOM- 20010510
LR  - 20190906
IS  - 0954-691X (Print)
IS  - 0954-691X (Linking)
VI  - 13
IP  - 2
DP  - 2001 Feb
TI  - A malignant gastrointestinal stromal tumour in a patient with multiple endocrine 
      neoplasia type 1.
PG  - 207-11
AB  - Loss of heterozygosity for polymorphic markers flanking the multiple endocrine 
      neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet tumours from 
      subjects with MEN-1 has been well documented and has led to the hypothesis that 
      the MEN-1 gene functions as a recessive tumour suppressor gene. We report a case 
      of MEN-1 with duodeno-pancreatic gastrinoma, parathyroid hyperplasia, pituitary 
      adenoma, adrenal adenoma, and lipomas, whose rare association with a malignant 
      gastrointestinal stromal tumour (GIST) represents an undescribed combination. 
      MEN-1 mutation in this family was shown as a frameshift (1607delA) in exon 10. To 
      assess the role of the MEN-1 gene in the pathogenesis of tumours less commonly 
      associated with MEN-1, we studied GIST DNA for loss of the unaffected MEN-1 gene 
      allele. Stromal tumour and peripheral leucocyte DNAs from our patient were 
      examined for loss of heterozygosity using the PYGM microsatellite polymorphism 
      and an intragenic polymorphism (D418D in exon 9) in the MEN-1 gene. We showed no 
      evidence for loss of the wild-type MEN-1 allele in GIST. The MEN-1 germline 
      inactivating mutation 1607delA-ter558 in exon 10 was detected in the stromal 
      tumour DNA, but no somatic mutation in the wild-type MEN-1 allele in GIST DNA was 
      detected. Occurrence of GIST could be consistent with the possibility that this 
      MEN-1-related uncommon neoplasm arose independently by a mechanism unrelated to 
      the MEN-1 gene.
FAU - Papillon, E
AU  - Papillon E
AD  - Departement d'Hepato-Gastro-Enterologie, Chu Grenoble, France. 
      ARolachon@chu-grenoble.fr
FAU - Rolachon, A
AU  - Rolachon A
FAU - Calender, A
AU  - Calender A
FAU - Chabre, O
AU  - Chabre O
FAU - Barnoud, R
AU  - Barnoud R
FAU - Fournet, J
AU  - Fournet J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Gastroenterol Hepatol
JT  - European journal of gastroenterology & hepatology
JID - 9000874
RN  - 0 (DNA, Neoplasm)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 11
MH  - DNA, Neoplasm/analysis
MH  - Gastrinoma/genetics/*pathology
MH  - Gastrointestinal Neoplasms/genetics/*pathology
MH  - Genes, Tumor Suppressor
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/genetics/*pathology
MH  - Neoplasms, Multiple Primary/genetics/*pathology
MH  - Polymorphism, Genetic
EDAT- 2001/03/15 10:00
MHDA- 2001/05/22 10:01
CRDT- 2001/03/15 10:00
PHST- 2001/03/15 10:00 [pubmed]
PHST- 2001/05/22 10:01 [medline]
PHST- 2001/03/15 10:00 [entrez]
AID - 10.1097/00042737-200102000-00021 [doi]
PST - ppublish
SO  - Eur J Gastroenterol Hepatol. 2001 Feb;13(2):207-11. doi: 
      10.1097/00042737-200102000-00021.