PMID- 9050920
OWN - NLM
STAT- MEDLINE
DCOM- 19970325
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 99
IP  - 3
DP  - 1997 Mar
TI  - Differential loss of heterozygosity in familial, sporadic, and uremic 
      hyperparathyroidism.
PG  - 342-9
AB  - Various genetic loci harboring oncogenes, tumor suppressor genes, and genes for 
      calcium receptors have been implicated in the development of parathyroid tumors. 
      We have carried out loss of heterozygosity (LOH) studies in chromosomes 1p, 1q, 
      3q, 6q, 11q, 13q, 15q, and X in a total of 89 benign parathyroid tumors. Of 
      these, 28 were sporadic parathyroid adenomas from patients with no family history 
      of the disease, 41 were secondary parathyroid tumors, 5 were from patients with a 
      history of previous irradiation to the neck, 12 were from patients with a family 
      history of hyperparathyroidism, and 3 were parathyroid tumors related to multiple 
      endocrine neoplasia type 1 (MEN1). In addition, we determined the chromosomal 
      localization of a second putative calcium-sensing receptor, CaS, for inclusion in 
      the LOH studies. Based on analysis of somatic cell hybrids and fluorescent in 
      situ hybridization to metaphase chromsomes, the gene for CaS was mapped to 
      chromosomal region 2q21-q22. The following results were obtained from the LOH 
      studies: (1) out of the 24 tumors that showed LOH, only 4 had more than one 
      chromosomal region involved, (2) in the tumors from uremic patients, LOH of 
      chromosome 3q was detected in a subset of the tumors, (3) LOH of the MEN1 region 
      at 11q13 was the most common abnormality found in both MEN1-related and sporadic 
      parathyroid tumours but was not a feature of the other forms of parathyroid 
      tumors, (4) LOH in 1p and 6q was not as frequent as previously reported, and (5) 
      tumor suppressor genes in 1q and X might have played a role, particularly on the 
      X chromosome, in the case of familial parathyroid adenomas. We therefore conclude 
      that the tumorigenesis of familial, sporadic, and uremic hyperparathyroidism 
      involves different genetic triggers in a non-progressive pattern.
FAU - Farnebo, F
AU  - Farnebo F
AD  - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden. 
      ffa@gen.ks.se
FAU - Teh, B T
AU  - Teh BT
FAU - Dotzenrath, C
AU  - Dotzenrath C
FAU - Wassif, W S
AU  - Wassif WS
FAU - Svensson, A
AU  - Svensson A
FAU - White, I
AU  - White I
FAU - Betz, R
AU  - Betz R
FAU - Goretzki, P
AU  - Goretzki P
FAU - Sandelin, K
AU  - Sandelin K
FAU - Farnebo, L O
AU  - Farnebo LO
FAU - Larsson, C
AU  - Larsson C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Receptors, LDL)
SB  - IM
MH  - Adenoma/complications/genetics
MH  - Autoradiography
MH  - Calcium-Binding Proteins/*genetics
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 2
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Hybrid Cells
MH  - Hyperparathyroidism/complications/*genetics
MH  - Hyperparathyroidism, Secondary/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/complications/genetics
MH  - Neoplasms/genetics
MH  - Parathyroid Neoplasms/complications/*genetics/secondary
MH  - Receptors, LDL/*genetics
MH  - Uremia/complications
EDAT- 1997/03/01 00:00
MHDA- 1997/03/01 00:01
CRDT- 1997/03/01 00:00
PHST- 1997/03/01 00:00 [pubmed]
PHST- 1997/03/01 00:01 [medline]
PHST- 1997/03/01 00:00 [entrez]
AID - 10.1007/s004390050369 [doi]
PST - ppublish
SO  - Hum Genet. 1997 Mar;99(3):342-9. doi: 10.1007/s004390050369.