A subset of AML-M2/M4Eo patients has been shown to carry c-kit mutations suggesting that myelomonoblastic leukemia cells, disrupting core binding factor through t(8;21) or inv(16) chromosomal rearrangements, have a common differentiation stage suitable to c-kit mutation. In rare core binding factor leukemia patients an increased dosage of a mutated Asp816(Tyr/Val) kit allele is achieved through nonrandom duplication of chromosome 4 where the c-kit gene is located.
Amplification of a novel c-Kit activating mutation Asn(822)-Lys in the Kasumi-1 cell line: a t(8;21)-Kit mutant model for acute myeloid leukemia / A. Beghini, I. Magnani, C. B. Ripamonti, L. Larizza. - In: HEMATOLOGY JOURNAL. - ISSN 1466-4860. - 3:3(2002), pp. 157-163.
Titolo: | Amplification of a novel c-Kit activating mutation Asn(822)-Lys in the Kasumi-1 cell line: a t(8;21)-Kit mutant model for acute myeloid leukemia |
Autori: | BEGHINI, ALESSANDRO (Primo) MAGNANI, IVANA (Secondo) LARIZZA, LIDIA (Ultimo) |
Parole Chiave: | Activating mutation; Core binding factor; Gene amplification; Kasumi-1; KIT |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica Settore MED/15 - Malattie del Sangue |
Data di pubblicazione: | 2002 |
Rivista: | |
Tipologia: | Article (author) |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1038/sj.thj.6200168 |
Appare nelle tipologie: | 01 - Articolo su periodico |