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Titolo:
Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer
Autore:
Sijmons, R; Hofstra, R; Hollema, H; Mensink, R; van der Hout, A; Hoekstra, H; Kleibeuker, J; Molenaar, W; Wijnen, J; Fodde, R; Vasen, H; Buys, C;
Indirizzi:
Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, Netherlands Univ Groningen Groningen Netherlands NL-9713 AW W Groningen, Netherlands Univ Groningen Hosp, Dept Pathol, Groningen, Netherlands Univ Groningen Hosp Groningen Netherlands athol, Groningen, Netherlands Univ Groningen Hosp, Dept Surg, Groningen, Netherlands Univ Groningen Hosp Groningen Netherlands Surg, Groningen, Netherlands Univ Groningen Hosp, Dept Internal Med, Groningen, Netherlands Univ Groningen Hosp Groningen Netherlands l Med, Groningen, Netherlands Leiden Univ, Med Ctr, Dept Human & Clin Genet, Leiden, Netherlands Leiden Univ Leiden Netherlands Human & Clin Genet, Leiden, Netherlands Netherlands Fdn Detect Hereditary Tumours, Leiden, Netherlands NetherlandsFdn Detect Hereditary Tumours Leiden Netherlands etherlands
Titolo Testata:
GENES CHROMOSOMES & CANCER
fascicolo: 4, volume: 29, anno: 2000,
pagine: 353 - 355
SICI:
1045-2257(200012)29:4<353:IOMFHI>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
HNPCC; RISK; INSTABILITY; MUTATIONS; SURVIVAL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Sijmons, R Univ Groningen, Dept Med Genet, A Deuslinglaan 4, NL-9713 AW Groningen, Netherlands Univ Groningen A Deuslinglaan 4 Groningen NetherlandsNL-9713 AW
Citazione:
R. Sijmons et al., "Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer", GENE CHROM, 29(4), 2000, pp. 353-355

Abstract

Sarcomas, including the malignant fibrous histiocytomas (MFHs), are not known to be part of the tumour spectrum of hereditary non-polyposis colorectal cancer (HNPCC) as epidemiologically established. Therefore, occurrence ofMFH in an HNPCC family may very well be coincidental. HNPCC is associated with germline mutations in DNA mismatch repair genes, including the MSH2 gene. We analysed an MFH diagnosed in a 45-year-old male HNPCC patient carrying a germline MSH2 mutation for HNPCC-associated molecular characteristics,to investigate a possible relationship between the tumour and that mutation. DNA analysis revealed microsatellite instability and loss of one MSH2 copy, and immunohistochemistry showed absence of nuclear MSH2 protein staining. To investigate whether this is a common finding in MFH, microsatellite instability and nuclear MSH2 protein staining was tested for in 5 and 6 sporadic MFHs, respectively. None showed microsatellite instability and all stained positively for MSH2. Together, these findings show that in rare cases,MFH may be part of the HNPCC tumour spectrum. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 13:32:56