Data/hora: 08/06/2024 09:32:01

Provedor de dados: 	Genetics and Molecular Biology	
País: 	Brazil	
Título: 	Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan	
Autores: 	Mori,Naoki; Yoshinaga,Kentaro; Tada,Makiko; Wang,Yanhua; Shiseki,Masayuki; Motoji,Toshiko.	
Data: 	2008-01-01	
Ano: 	2008	
Palavras-chave: 	JAK2 gene; V617F mutation; Signal transduction; Acute myeloid leukemia; Lymphoid malignancies.	
Resumo: 	A unique mutation of the JAK2 gene, V617F, has recently been identified in polycythemia vera, essential thrombocythemia and myeloid metaplasia with myelofibrosis. To determine the relevance of this mutation in other types of hematological neoplasms in Japan, we performed allele-specific polymerase chain reaction analysis on the JAK2 gene. The V617F mutation was detected in one out of 130 myeloid neoplasms, but in none of 114 lymphoid malignancies and four biphenotypic acute leukemias. Although a favorable chromosomal alteration t(8;21)(q22;q22) was observed in one acute myeloid leukemia (AML) patient with the mutation, two courses of chemotherapy resulted in induction failure and short survival. Sequencing of JAK2 cDNA revealed expression of the mutant allele in the patient. The V617F mutation might play a role in the pathogenesis of certain AML cases.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300006	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572008000300006	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.31 n.2 2008	
Fonte: 	info:eu-repo/semantics/openAccess