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Titolo:
CHROMOSOMAL INSTABILITY IN FIBROBLASTS AND MESENCHYMAL TUMORS FROM 2 SIBS WITH ROTHMUND-THOMSON-SYNDROME
Autore:
MIOZZO M; CASTORINA P; RIVA P; DALPRA L; CONTI AMF; VOLPI L; HOE TS; KHOO A; WIEGANT J; ROSENBERG C; LARIZZA L;
Indirizzi:
DIPARTIMENTO BIOL & GENET SCI MED,VIA VIOTTI 3-5 I-20133 MILAN ITALY UNIV MILAN,FAC MED,DEPT BIOL & GENET MILAN ITALY INST MED RES,DIV MOL PATHOL KUALA LUMPUR 50588 MALAYSIA NATL UNIV MALAYSIA,DEPT PEDIAT KUALA LUMPUR MALAYSIA LEIDEN UNIV,FAC MED,DEPT CYTOCHEM & CYTOMETRY LEIDEN NETHERLANDS
Titolo Testata:
International journal of cancer
fascicolo: 4, volume: 77, anno: 1998,
pagine: 504 - 510
SICI:
0020-7136(1998)77:4<504:CIIFAM>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMPARATIVE GENOMIC HYBRIDIZATION; HUMAN SARCOMAS; OSTEOSARCOMAS; RADIOSENSITIVITY; IDENTIFICATION; MOSAICISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
M. Miozzo et al., "CHROMOSOMAL INSTABILITY IN FIBROBLASTS AND MESENCHYMAL TUMORS FROM 2 SIBS WITH ROTHMUND-THOMSON-SYNDROME", International journal of cancer, 77(4), 1998, pp. 504-510

Abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis associated with increased risk of mesenchymal tumors. The putative gene has been provisionally assigned to chromosome 8. Using a cytogenetic-molecular approach, we studied lymphocytes, fibroblasts, osteosarcoma (OS) and malignant fibrous histiocytoma (MFH) from 2 affectedfraternal twins, looking for constitutive markers of chromosome instability and tumor chromosomal changes which might reflect the common genetic background. The rate of spontaneous chromosome aberrations was not increased in lymphocytes. Conversely, karyotyping of primary fibroblasts from one sib evidenced chromosome breaks and both numerical and structural chromosome changes in 24% and 17% of the metaphases respectively. FISH of a 8q21.3 cosmid allowed us to detect trisomy of the target region on 7% of fibroblast nuclei from both sibs, 47% and 12% of OS and MFH cells. Pronounced chromosomal instability and clonal rearrangements leading to different chromosome-8 derivatives were detected inboth tumors. CGH experiments showed multiple gains/losses, among which del(6q), also revealed by cytogenetics, and 7p gain were common, whereas 8q amplification was present only in OS. Chromosomal instability,observed in fibroblasts from the RTS patients studied, accounts for the increased risk of mesenchymal tumors in these patients. Int. J. Cancer 77:504-510, 1998. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 12:30:15