PMID- 9141526
OWN - NLM
STAT- MEDLINE
DCOM- 19970523
LR  - 20220408
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 82
IP  - 5
DP  - 1997 May
TI  - Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, 
      lipomas, and other uncommon tumors in subjects with familial multiple endocrine 
      neoplasia type 1.
PG  - 1416-20
AB  - Loss of heterozygosity (LOH) for polymorphic markers flanking the multiple 
      endocrine neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet 
      tumors from subjects with familial MEN-1 (FMEN-1) has been well documented and 
      has led to the hypothesis that the MEN-1 gene functions as a tumor suppressor. To 
      assess the role of the MEN-1 gene in the pathogenesis of tumors less commonly 
      associated with MEN-1, we employed a large number of highly informative 
      polymorphic markers closely linked to the MEN-1 gene to study a series of 13 such 
      tumors from subjects with FMEN-1 for LOH at 11q13. We were able to identify LOH 
      for 1 or more 11q13 markers in 2 of 3 pituitary tumors, 3 lung carcinoids, and 1 
      of 2 lipomas. In every case studied, the allele lost represented the normal 
      allele inherited from the unaffected parent. No LOH was detected in 3 skin 
      angiofibromas, an esophageal leiomyoma, or a renal angiomyolipoma despite the 
      presence of at least 2 informative markers for each tumor. Our results suggest 
      that, like that for parathyroid and pancreatic islet tumors, the pathogenesis of 
      pituitary tumors, lung carcinoids, and lipomas occurring in subjects with FMEN-1 
      probably involves loss of the normal tumor suppressor function of the MEN-1 gene. 
      Our inability to detect 11q13 LOH in skin angiofibromas, leiomyoma, and 
      angiomyolipoma from subjects with FMEN-1 is consistent with the possibility that 
      these neoplasms arose independently by a mechanism unrelated to the MEN-1 gene, 
      but a role for the MEN-1 gene in the pathogenesis of these tumors cannot be 
      definitively excluded until the gene itself is identified and evaluated for small 
      intragenic deletions or point mutations in such tumors.
FAU - Dong, Q
AU  - Dong Q
AD  - Metabolic Diseases Branch, National Institute of Diabetes and Digestive and 
      Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.
FAU - Debelenko, L V
AU  - Debelenko LV
FAU - Chandrasekharappa, S C
AU  - Chandrasekharappa SC
FAU - Emmert-Buck, M R
AU  - Emmert-Buck MR
FAU - Zhuang, Z
AU  - Zhuang Z
FAU - Guru, S C
AU  - Guru SC
FAU - Manickam, P
AU  - Manickam P
FAU - Skarulis, M
AU  - Skarulis M
FAU - Lubensky, I A
AU  - Lubensky IA
FAU - Liotta, L A
AU  - Liotta LA
FAU - Collins, F S
AU  - Collins FS
FAU - Marx, S J
AU  - Marx SJ
FAU - Spiegel, A M
AU  - Spiegel AM
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
SB  - IM
MH  - Adult
MH  - Angiofibroma/genetics
MH  - Angiomyolipoma/genetics
MH  - Carcinoid Tumor/genetics
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - *Heterozygote
MH  - Humans
MH  - Leiomyoma/genetics
MH  - Lipoma/*genetics
MH  - Lung Neoplasms/*genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pituitary Neoplasms/*genetics
EDAT- 1997/05/01 00:00
MHDA- 1997/05/01 00:01
CRDT- 1997/05/01 00:00
PHST- 1997/05/01 00:00 [pubmed]
PHST- 1997/05/01 00:01 [medline]
PHST- 1997/05/01 00:00 [entrez]
AID - 10.1210/jcem.82.5.3944 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1997 May;82(5):1416-20. doi: 10.1210/jcem.82.5.3944.