title: Studies in a kindred with parathyroid carcinoma.
abstract: We report a family with primary hyperparathyroidism in four patients in two generations with apparent autosomal dominant transmission. A fifth member was probably affected. Two cases had definite parathyroid carcinoma (PC), and two had parathyroid adenoma with atypical features that could represent an early stage of cancer. In each of our patients, one parathyroid gland was abnormal. Five other parathyroid glands (in two patients) were normal in histology and size. There was no evidence of neoplasia in other tissues. Constitutional karyotypes were normal in all four patients. We identified three chromosomal abnormalities (a reciprocal translocation between chromosomes 3 and 4, trisomy 7, and a pericentric inversion in chromosome 9) in cultured PC tissue from one patient. These chromosomal changes are of unclear significance. Analyses on tumor DNA from one case of PC and one of atypical adenoma showed no evidence of ras gene mutations, PTH gene rearrangement, or allelic loss from chromosome 11q13 (locus of the gene for multiple endocrine neoplasia type 1). This family shows susceptibility to cancer without antecedent hyperplasia in all parathyroids. It could help identify a novel tumor susceptibility gene.
authors.affiliation: Metabolic Diseases Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: E A
authors.initials: EA
authors.lastname: Streeten
authors.forename: L S
authors.initials: LS
authors.lastname: Weinstein
authors.forename: J A
authors.initials: JA
authors.lastname: Norton
authors.forename: J J
authors.initials: JJ
authors.lastname: Mulvihill
authors.forename: B J
authors.initials: BJ
authors.lastname: White
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: G
authors.initials: G
authors.lastname: Jaffe
authors.forename: M L
authors.initials: ML
authors.lastname: Brandi
authors.forename: K
authors.initials: K
authors.lastname: Stewart
authors.forename: M B
authors.initials: MB
authors.lastname: Zimering
mesh_terms: D000236:Adenoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002277:Carcinoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D004273:DNA, Neoplasm / Q000032:analysis; D006801:Humans; D006961:Hyperparathyroidism / Q000209:etiology; D010280:Parathyroid Glands / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D004273:DNA, Neoplasm