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Titolo:
High incidence of N and K-Ras activating mutations in multiple myeloma andprimary plasma cell leukemia at diagnosis
Autore:
Bezieau, S; Devilder, MC; Avet-Loiseau, H; Mellerin, MP; Puthier, D; Pennarun, E; Rapp, MJ; Harousseau, JL; Moisan, JP; Bataille, R;
Indirizzi:
Inst Biol, Genet Mol Lab, F-44093 Nantes 01, France Inst Biol Nantes France 01 iol, Genet Mol Lab, F-44093 Nantes 01, France Inst Biol, Hematol Lab, F-44093 Nantes, France Inst Biol Nantes France F-44093 iol, Hematol Lab, F-44093 Nantes, France Hop Hotel Dieu, Dept Clin Hematol, Nantes, France Hop Hotel Dieu Nantes France el Dieu, Dept Clin Hematol, Nantes, France
Titolo Testata:
HUMAN MUTATION
fascicolo: 3, volume: 18, anno: 2001,
pagine: 212 - 224
SICI:
1059-7794(2001)18:3<212:HIONAK>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE-CHAIN-REACTION; ALLELE-SPECIFIC AMPLIFICATION; HUMAN B-LYMPHOBLASTS; GENE-MUTATIONS; COLORECTAL-CANCER; ONCOGENE MUTATION; POINT MUTATIONS; LINE ANBL6; EXPRESSION; SYSTEM;
Keywords:
NRAS; KRAS2; ARMS; multiple myeloma; plasma-cell leukemia; MGUS; incidence; mutation detection;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
52
Recensione:
Indirizzi per estratti:
Indirizzo: Bezieau, S Inst Biol, Hematol Lab, 9 Quai Moncousu, F-44093 Nantes 01, France Inst Biol 9 Quai Moncousu Nantes France 01 3 Nantes 01, France
Citazione:
S. Bezieau et al., "High incidence of N and K-Ras activating mutations in multiple myeloma andprimary plasma cell leukemia at diagnosis", HUM MUTAT, 18(3), 2001, pp. 212-224

Abstract

Using allele,specific amplification method (ARMS), a highly sensitive one-stage allele specific PCR, we have evaluated the incidence of NRAS and KRAS2 activating mutations (codons 12, 13, and 61) in 62 patients with either monoclonal gammopathy of undetermined significance (MGUS) or multiple myeloma. (MM), primary plasma-cell leukemia (P-PCL), and also in human myeloma cell lines (HMCL). NRAS and/or KRAS2 mutations were found in 54.5% of MM at diagnosis (but in 81% at the time of relapse), in 50% of P-PCL, and in 50% of 16 HMCL. In contrast, the occurrence of such mutations was very low in MGUS and indolent MM (12.50%). Of note, KRAS2 mutations were always more frequent than NRAS. The validity of the technique was assessed by direct sequencing of cell lines and of some patients. Multiple mutations found in two patients were confirmed by subcloning exon PCR amplification products, testing clones with our method, and sequencing them. Thus, these early mutations could play a major role in the oncogenesis of MM and P-PCL. Hum Mutat 18:212-224, 2001. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 18/01/20 alle ore 13:53:02