PMID- 8989266
OWN - NLM
STAT- MEDLINE
DCOM- 19970130
LR  - 20061115
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 82
IP  - 1
DP  - 1997 Jan
TI  - Inactivation of the tumor suppressor gene on 11q13 in brothers with familial 
      acrogigantism without multiple endocrine neoplasia type 1.
PG  - 239-42
AB  - Two of three brothers (the second and third brothers) and their uncle (their 
      mother's brother) presented acrogigantism without multiple endocrine neoplasia 
      type 1 (MEN 1). An invasive macroadenoma was found in the second brother, and it 
      was histologically confirmed as a sparsely granulated GH cell adenoma. Two 
      distinct microadenomas were found in the third brother, and these were 
      histologically diagnosed as a mixed GH cell and PRL cell adenoma and a sparsely 
      granulated GH cell adenoma, respectively. The loss of heterozygosity (LOH) was 
      analyzed in two adenomas (GH cell adenoma from the second brother and a mixed GH 
      cell and PRL cell adenoma from the third brother) by determining microsatellite 
      polymorphisms of DNAs from tumors and patients' leukocytes. The LOH was found on 
      the chromosome 11q13, whereas LOH was not detected on 1p31-36, 2p, 3p, 4, 5, 6p, 
      7, 8, 9p21-22, 12p, and 19q13 in both pituitary adenomas examined. The haplotype 
      analysis showed that the same haplotype on 11q13 was found in their mother and 
      the unaffected first brother as well as in the affected uncle and two brothers. 
      The deleted alleles on chromosome 11q13 in the tumors of two affected brothers 
      were, however, restricted to those transmitted from their unaffected father. 
      These data suggest that inactivation of the MEN 1 gene or other tumor suppressor 
      genes on chromosome 11q13 plays an important role for the development of our 
      familial acrogigantism without MEN 1.
FAU - Yamada, S
AU  - Yamada S
AD  - Department of Neurosurgery, Toranomon Hospital, Tokyo, Japan.
FAU - Yoshimoto, K
AU  - Yoshimoto K
FAU - Sano, T
AU  - Sano T
FAU - Takada, K
AU  - Takada K
FAU - Itakura, M
AU  - Itakura M
FAU - Usui, M
AU  - Usui M
FAU - Teramoto, A
AU  - Teramoto A
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  - 12629-01-5 (Human Growth Hormone)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adenoma/genetics
MH  - Adult
MH  - *Chromosomes, Human, Pair 11
MH  - DNA/analysis
MH  - Genes, Tumor Suppressor/*genetics
MH  - Gigantism/*genetics
MH  - Haplotypes
MH  - Heterozygote
MH  - Human Growth Hormone/metabolism
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - *Multiple Endocrine Neoplasia Type 1
MH  - Pituitary Neoplasms/genetics
EDAT- 1997/01/01 00:00
MHDA- 1997/01/01 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/01/01 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - 10.1210/jcem.82.1.3697 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1997 Jan;82(1):239-42. doi: 10.1210/jcem.82.1.3697.