Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300006 |
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. |
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Genetics and Molecular Biology |
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Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in JapanJAK2 geneV617F mutationsignal transductionacute myeloid leukemialymphoid malignanciesA 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.Sociedade Brasileira de Genética2008-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300006Genetics and Molecular Biology v.31 n.2 2008reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572008000300006info:eu-repo/semantics/openAccessMori,NaokiYoshinaga,KentaroTada,MakikoWang,YanhuaShiseki,MasayukiMotoji,Toshikoeng2008-06-24T00:00:00Zoai:scielo:S1415-47572008000300006Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2008-06-24T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
title |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
spellingShingle |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan Mori,Naoki JAK2 gene V617F mutation signal transduction acute myeloid leukemia lymphoid malignancies |
title_short |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
title_full |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
title_fullStr |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
title_full_unstemmed |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
title_sort |
Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan |
author |
Mori,Naoki |
author_facet |
Mori,Naoki Yoshinaga,Kentaro Tada,Makiko Wang,Yanhua Shiseki,Masayuki Motoji,Toshiko |
author_role |
author |
author2 |
Yoshinaga,Kentaro Tada,Makiko Wang,Yanhua Shiseki,Masayuki Motoji,Toshiko |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Mori,Naoki Yoshinaga,Kentaro Tada,Makiko Wang,Yanhua Shiseki,Masayuki Motoji,Toshiko |
dc.subject.por.fl_str_mv |
JAK2 gene V617F mutation signal transduction acute myeloid leukemia lymphoid malignancies |
topic |
JAK2 gene V617F mutation signal transduction acute myeloid leukemia lymphoid malignancies |
description |
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. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300006 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572008000300006 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.31 n.2 2008 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122381149667328 |