Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Inheritance of osteosarcoma and Paget's disease of bone - A familial loss of heterozygosity study
Autore:
McNairn, JDK; Damron, TA; Landas, SK; Ambrose, JL; Shrimpton, AE;
Indirizzi:
SUNY Upstate Med Univ, Dept Pathol, Syracuse, NY USA SUNY Upstate Med Univ Syracuse NY USA niv, Dept Pathol, Syracuse, NY USA SUNY Upstate Med Univ, Dept Orthoped Surg, Syracuse, NY USA SUNY Upstate Med Univ Syracuse NY USA pt Orthoped Surg, Syracuse, NY USA SUNY Upstate Med Univ, Dept Radiol, Syracuse, NY USA SUNY Upstate Med Univ Syracuse NY USA niv, Dept Radiol, Syracuse, NY USA
Titolo Testata:
JOURNAL OF MOLECULAR DIAGNOSTICS
fascicolo: 4, volume: 3, anno: 2001,
pagine: 171 - 177
SICI:
1525-1578(200111)3:4<171:IOOAPD>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
RADIOLOGIC FEATURES; CHROMOSOME 18Q; SARCOMAS; EMPHASIS; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Damron, TA Dept Orthoped, Suite 100,550 Harrison Ctr, Syracuse, NY 13202 USA Dept Orthoped Suite 100,550 Harrison Ctr Syracuse NY USA 13202
Citazione:
J.D.K. McNairn et al., "Inheritance of osteosarcoma and Paget's disease of bone - A familial loss of heterozygosity study", J MOL DIAGN, 3(4), 2001, pp. 171-177

Abstract

Pagetoid osteosarcoma is a complication of Paget's disease of bone. Sarcomatous transformation is most often seen in severe, long-standing Paget's disease. Familial clustering of Paget's disease has been described with apparent autosomal dominant Inheritance with high penetrance by the sixth decade. Although definitive proof of the specific gene involved remains elusive, some researchers have shown loss of heterozygosity in a region of chromosome 18q in a relatively high percentage of studied patients affected with either Paget's disease alone, in Pagetoid osteosarcoma, and in uncomplicated osteosarcoma. Our patient was diagnosed with Pagetoid osteosarcoma and had afirst-degree relative with history of the same. We hypothesized that our patient's tumor samples might contain a similar genetic abnormality. Our analysis of several polymorphic markers from the chromosome 18q21-22 region showed loss of maternally inherited alleles throughout the region. This finding is similar to those described previously(4) and provides further evidence of a susceptibility region relating to this disease. This report describes a father and son, their young ages at diagnosis of Pagetoid sarcoma, the identical sites of disease involvement, and a loss of heterozygosity study illustrating the inheritance of the presumed defective gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 21:51:23