PMID- 7962349
OWN - NLM
STAT- MEDLINE
DCOM- 19941221
LR  - 20131121
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 79
IP  - 5
DP  - 1994 Nov
TI  - Variable regions of chromosome 11 loss in different pathological tissues of a 
      patient with the multiple endocrine neoplasia type I syndrome.
PG  - 1498-502
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited 
      disorder characterized by nodular proliferation of the parathyroid glands and 
      tumors of the anterior pituitary gland, the endocrine pancreas, and the 
      neuroendocrine cell system of the gut. Loss of the putative tumor suppressor 
      effect of the MEN1 gene is probably responsible for the development of 
      MEN1-associated tumors. We report here a genetic study of a female MEN1 patient 
      with the association of nodular hyperplasia of two parathyroid glands, an 
      insulinoma, multiple duodenal gastrinomas, a prolactinoma, and a gastric 
      carcinoid. We performed loss of heterozygosity (LOH) studies of chromosome 11 on 
      all affected tissues except the insulinoma. Allelic losses of chromosome 11 were 
      detected in several tumors, but the chromosomal regions of LOH were different, 
      suggesting that different somatic mutational events are involved in the 
      pathogenesis of these tumors. LOH of chromosome 11 was also detected in the 
      prolactinoma of this patient, which indicates that the MEN1 gene has a tumor 
      suppressor effect in the pituitary.
FAU - Beckers, A
AU  - Beckers A
AD  - Department of Endocrinology, University of Liege, Belgium.
FAU - Abs, R
AU  - Abs R
FAU - Reyniers, E
AU  - Reyniers E
FAU - De Boulle, K
AU  - De Boulle K
FAU - Stevenaert, A
AU  - Stevenaert A
FAU - Heller, F R
AU  - Heller FR
FAU - Kloppel, G
AU  - Kloppel G
FAU - Meurisse, M
AU  - Meurisse M
FAU - Willems, P J
AU  - Willems PJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (DNA, Neoplasm)
RN  - SY7Q814VUP (Calcium)
SB  - IM
GS  - MEN1
MH  - Calcium/blood
MH  - *Chromosomes, Human, Pair 11
MH  - DNA, Neoplasm/analysis/genetics
MH  - Female
MH  - Genetic Linkage
MH  - Heterozygote
MH  - Humans
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/blood/*genetics/*pathology
MH  - Neuroendocrine Tumors/genetics/pathology
MH  - Parathyroid Neoplasms/genetics/pathology
MH  - Pituitary Neoplasms/genetics/pathology
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1994/11/01 00:00
MHDA- 1994/11/01 00:01
CRDT- 1994/11/01 00:00
PHST- 1994/11/01 00:00 [pubmed]
PHST- 1994/11/01 00:01 [medline]
PHST- 1994/11/01 00:00 [entrez]
AID - 10.1210/jcem.79.5.7962349 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1994 Nov;79(5):1498-502. doi: 10.1210/jcem.79.5.7962349.