Új lehetoség a krónikus myeloproliferativ betegségek diagnosztikájában - A JAK2 mutáció kimutatása

Translated title of the contribution: Novel method in diagnosis of chronic myeloproliferative disorders - Detection of JAK2 mutation

Hajnalka Rajnai, Csaba Bödör, Lilla Reiniger, Botond Timár, B. Csernus, Ágota Szepesi, Judit Csomor, A. Matolcsy

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Chronic myeloproliferative disorders are clonal hemopoetic stem cell disorders characterized by proliferation of one or more myeloid cell lineages in the bone marrow. The WHO classification describes six major groups of chronic myeloproliferative disorders, as follows: chronic myeloid leukemia, chronic neutrophilic leukemia, chronic eosinophilic leukemia, polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. The diagnosis of chronic myeloid leukemia and certain types of chronic eosinophilic leukemia are based on the detection of fusion genes (in chronic myeloid leukemia the BCR/ABL fusion gene, and in chronic eosinophilic leukemia the FIP1L1-PDGFRα gene). On the other hand molecular markers for polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis were lacking, making it difficult to identify these disorders clearly. The authors investigated the incidence of the newly identified somatic point mutation V617F of the Janus-2 tyrosine kinase in patients with polycythemia vera, essential thrombocythemia and myelofibrosis. Janus-2 kinase is a cytoplasmic, non-receptor protein-tyrosine kinase with a key role in signal transduction from multiple hemopoetic growth factor receptors. The mutant protein is constitutively phosphorylated and is able to activate its downstream signaling pathways in the absence of any cytokine, thereby contributing to the pathogenesis of chronic myeloproliferative disorders. The authors investigated DNA samples from 132 patients with chronic myeloproliferative disorders. The V617F mutation was detected by allele-specific polymerase chain reaction, and the patients were genotyped by a DNA tetra-primer amplification refractory mutation system assay. Approximately 73% of polycythemia vera, 60% of essential thrombocythemia and 67% of myelofibrosis showed the JAK2 V617F mutation. Using the amplification refractory mutation system assay, the frequency of homozygotes was 17.5% in polycythemia vera, 5.4% in essential thrombocythemia and 0% in myelofibrosis. The authors established an effective polymerase chain reaction based method for the identification of JAK2 mutation in the routine oncohematological diagnostic.

Original languageHungarian
Pages (from-to)2175-2179
Number of pages5
JournalOrvosi Hetilap
Volume147
Issue number45
Publication statusPublished - Nov 12 2006

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Essential Thrombocythemia
Myeloproliferative Disorders
Polycythemia Vera
Primary Myelofibrosis
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Mutation
Janus Kinase 2
Gene Fusion
Leukemia, Neutrophilic, Chronic
Polymerase Chain Reaction
DNA Primers
Growth Factor Receptors
Homozygote
Cell Lineage
Myeloid Cells
Mutant Proteins
Cytoplasmic and Nuclear Receptors
Point Mutation
Protein-Tyrosine Kinases
Signal Transduction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Új lehetoség a krónikus myeloproliferativ betegségek diagnosztikájában - A JAK2 mutáció kimutatása. / Rajnai, Hajnalka; Bödör, Csaba; Reiniger, Lilla; Timár, Botond; Csernus, B.; Szepesi, Ágota; Csomor, Judit; Matolcsy, A.

In: Orvosi Hetilap, Vol. 147, No. 45, 12.11.2006, p. 2175-2179.

Research output: Contribution to journalArticle

Rajnai, H, Bödör, C, Reiniger, L, Timár, B, Csernus, B, Szepesi, Á, Csomor, J & Matolcsy, A 2006, 'Új lehetoség a krónikus myeloproliferativ betegségek diagnosztikájában - A JAK2 mutáció kimutatása', Orvosi Hetilap, vol. 147, no. 45, pp. 2175-2179.
Rajnai H, Bödör C, Reiniger L, Timár B, Csernus B, Szepesi Á et al. Új lehetoség a krónikus myeloproliferativ betegségek diagnosztikájában - A JAK2 mutáció kimutatása. Orvosi Hetilap. 2006 Nov 12;147(45):2175-2179.
Rajnai, Hajnalka ; Bödör, Csaba ; Reiniger, Lilla ; Timár, Botond ; Csernus, B. ; Szepesi, Ágota ; Csomor, Judit ; Matolcsy, A. / Új lehetoség a krónikus myeloproliferativ betegségek diagnosztikájában - A JAK2 mutáció kimutatása. In: Orvosi Hetilap. 2006 ; Vol. 147, No. 45. pp. 2175-2179.
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abstract = "Chronic myeloproliferative disorders are clonal hemopoetic stem cell disorders characterized by proliferation of one or more myeloid cell lineages in the bone marrow. The WHO classification describes six major groups of chronic myeloproliferative disorders, as follows: chronic myeloid leukemia, chronic neutrophilic leukemia, chronic eosinophilic leukemia, polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. The diagnosis of chronic myeloid leukemia and certain types of chronic eosinophilic leukemia are based on the detection of fusion genes (in chronic myeloid leukemia the BCR/ABL fusion gene, and in chronic eosinophilic leukemia the FIP1L1-PDGFRα gene). On the other hand molecular markers for polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis were lacking, making it difficult to identify these disorders clearly. The authors investigated the incidence of the newly identified somatic point mutation V617F of the Janus-2 tyrosine kinase in patients with polycythemia vera, essential thrombocythemia and myelofibrosis. Janus-2 kinase is a cytoplasmic, non-receptor protein-tyrosine kinase with a key role in signal transduction from multiple hemopoetic growth factor receptors. The mutant protein is constitutively phosphorylated and is able to activate its downstream signaling pathways in the absence of any cytokine, thereby contributing to the pathogenesis of chronic myeloproliferative disorders. The authors investigated DNA samples from 132 patients with chronic myeloproliferative disorders. The V617F mutation was detected by allele-specific polymerase chain reaction, and the patients were genotyped by a DNA tetra-primer amplification refractory mutation system assay. Approximately 73{\%} of polycythemia vera, 60{\%} of essential thrombocythemia and 67{\%} of myelofibrosis showed the JAK2 V617F mutation. Using the amplification refractory mutation system assay, the frequency of homozygotes was 17.5{\%} in polycythemia vera, 5.4{\%} in essential thrombocythemia and 0{\%} in myelofibrosis. The authors established an effective polymerase chain reaction based method for the identification of JAK2 mutation in the routine oncohematological diagnostic.",
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