Document Detail


A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.
MedLine Citation:
PMID:  10770180     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 Hürthle 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.
Authors:
C J Haven; F K Wong; E W van Dam; R van der Juijt; C van Asperen; J Jansen; C Rosenberg; M de Wit; J Roijers; J Hoppener; C J Lips; C Larsson; B T Teh; H Morreau
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  85     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2000 Apr 
Date Detail:
Created Date:  2000-05-01     Completed Date:  2000-05-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1449-54     Citation Subset:  AIM; IM    
Affiliation:
Department of Pathology, Leiden University Medical Center, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
Genetic Markers
Genotype*
Humans
Hyperparathyroidism / complications*,  genetics*,  pathology
Jaw Neoplasms / complications*,  genetics*,  pathology
Lod Score
Loss of Heterozygosity
Male
Multiple Endocrine Neoplasia Type 1 / genetics
Mutation*
Netherlands
Pedigree
Recombination, Genetic
Syndrome
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Subclinical Cushing's syndrome in patients with adrenal incidentaloma: clinical and biochemical feat...
Next Document:  Leucine 7 to proline 7 polymorphism in the preproneuropeptide Y is associated with birth weight and ...