PMID- 10770180
OWN - NLM
STAT- MEDLINE
DCOM- 20000501
LR  - 20061115
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 85
IP  - 4
DP  - 2000 Apr
TI  - A genotypic and histopathological study of a large Dutch kindred with 
      hyperparathyroidism-jaw tumor syndrome.
PG  - 1449-54
AB  - Familial primary hyperparathyroidism is the main feature of 2 familial endocrine 
      neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and 
      hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently 
      described syndrome that has been associated with ossifying fibroma of the jaw and 
      various types of renal lesions, including benign cysts, Wilms' tumor, and 
      hamartomas. To further illustrate the natural history of this syndrome, we 
      describe a large, previously unreported Dutch kindred in which 13 affected 
      members presented with either parathyroid adenoma or carcinoma; in 5 affected 
      individuals, cystic kidney disease was found. Additionally, pancreatic 
      adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, 
      testicular mixed germ cell tumor with major seminoma component, and Hurthle cell 
      thyroid adenoma were also identified. Linkage analysis of the family using 
      MEN1-linked microsatellite markers and mutation analysis excluded the involvement 
      of the MEN1 gene. Using markers from the HPT-JT region in 1q2531, cosegregation 
      with the disease was found, with a maximum logarithm of odds score of 2.41 
      obtained for 6 markers using the most conservative calculation. Meiotic telomeric 
      recombination between D1S413 and D1S477 was identified in 3 affected individuals, 
      and when combined with previous reports, delineated the HPT-JT region to 14 
      centimorgan. Combined comparative genomic hybridization and loss of 
      heterozygosity data revealed complex genetic abnormalities in the tumors, 
      suggesting different possible genetic mechanisms for the disease. In conclusion, 
      we report a family with hyperparathyroidism linked to chromosome 1q, and 
      exhibiting several types of renal and endocrine tumors that have not been 
      previously described.
FAU - Haven, C J
AU  - Haven CJ
AD  - Department of Pathology, Leiden University Medical Center, The Netherlands.
FAU - Wong, F K
AU  - Wong FK
FAU - van Dam, E W
AU  - van Dam EW
FAU - van der Juijt, R
AU  - van der Juijt R
FAU - van Asperen, C
AU  - van Asperen C
FAU - Jansen, J
AU  - Jansen J
FAU - Rosenberg, C
AU  - Rosenberg C
FAU - de Wit, M
AU  - de Wit M
FAU - Roijers, J
AU  - Roijers J
FAU - Hoppener, J
AU  - Hoppener J
FAU - Lips, C J
AU  - Lips CJ
FAU - Larsson, C
AU  - Larsson C
FAU - Teh, B T
AU  - Teh BT
FAU - Morreau, H
AU  - Morreau H
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 (Genetic Markers)
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1
MH  - Female
MH  - Genetic Markers
MH  - *Genotype
MH  - Humans
MH  - Hyperparathyroidism/*complications/*genetics/pathology
MH  - Jaw Neoplasms/*complications/*genetics/pathology
MH  - Lod Score
MH  - Loss of Heterozygosity
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/genetics
MH  - *Mutation
MH  - Netherlands
MH  - Pedigree
MH  - Recombination, Genetic
MH  - Syndrome
EDAT- 2000/04/19 00:00
MHDA- 2000/04/19 00:01
CRDT- 2000/04/19 00:00
PHST- 2000/04/19 00:00 [pubmed]
PHST- 2000/04/19 00:01 [medline]
PHST- 2000/04/19 00:00 [entrez]
AID - 10.1210/jcem.85.4.6518 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2000 Apr;85(4):1449-54. doi: 10.1210/jcem.85.4.6518.