A 2-es típusú Janus tirozin kináz Val617Phe aktiváló pontmutáció szerepe és kimutatásának jelentosége myeloproliferatív szindrómában

Translated title of the contribution: Role of the activating mutation Val617Phe of Janus kinase 2 gene in myeloproliferative diseases and significance of its detection

H. Andrikovics, Anikó Szilvási, Nóra Meggyesi, Viktória Király, Gabriella Halm, Sándor Lueff, Sarolta Nahajevszky, G. Mikala, Andrea Sipos, Nóra Lovas, Zoltán Csukly, Zoltán Mátrai, Júlia Tamáska, A. Tordai, T. Masszi

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The Val617Phe point mutation of Janus kinase 2 gene is believed to participate in the pathogenesis of myeloproliferative syndrome characterised by the clonal alteration of hematopoetic stem cells. According to current results, the frequency ofVal617Phe activating mutation is around 80% in polycythaemia vera, 35% in essential thrombocythaemia, and 50% in chronic idiopathic myelofibrosis. The diagnoses of polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis were so far based on the exclusion of secondary factors as well as bone marrow biopsy histology. The goal of the present work was to establish simple molecular genetic techniques for the routine testing of Janus kinase 2 gene Val617Phe mutation, and to compare the clinical phenotypes ofVal617Phe mutation positive and negative myeloproliferative syndromes. We employed the allele specific polymerase chain technique for detection of Val617Phe mutation in 252 patients with myeloproliferative syndrome. We measured Val617Phe frequency as 85,4% (117/137) in polycytaemia vera, 56,6% (56/99) in essential thrombocythaemia, and 87,5% (14/16) in idiopathic myelofibrosis. We found significantly elevated hemoglobin levels and white blood cell counts (measured at the time of diagnosis) in Val617Phe-positive polycythaemia vera and essential thrombocythaemia patient groups compared to Val617Phe-negative patients. However, the frequencies of splenomegaly and other complications (thrombosis, bleeding, transformation to acute leukemia) were not significantly different between the mutation-positive and negative groups. In conclusion, the non-invasive mutation analysis of the Janus kinase 2 Val617Phe is suitable for routine laboratory application and helps the differential diagnosis of myeloproliferative syndrome. Althought the exact role of Val617Phe mutation testing has not yet been identified on the basis of a broad professional consensus, the testing is suggested in cases of erythrocytoses and thrombocytoses of unknown origin.

Original languageHungarian
Pages (from-to)203-210
Number of pages8
JournalOrvosi Hetilap
Volume148
Issue number5
DOIs
Publication statusPublished - Feb 4 2007

Fingerprint

Janus Kinase 2
Essential Thrombocythemia
Mutation
Polycythemia Vera
Primary Myelofibrosis
Genes
Genetic Techniques
Thrombocytosis
Polycythemia
Splenomegaly
Leukocyte Count
Point Mutation
Molecular Biology
Histology
Leukemia
Hemoglobins
Thrombosis
Differential Diagnosis
Stem Cells
Bone Marrow

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A 2-es típusú Janus tirozin kináz Val617Phe aktiváló pontmutáció szerepe és kimutatásának jelentosége myeloproliferatív szindrómában. / Andrikovics, H.; Szilvási, Anikó; Meggyesi, Nóra; Király, Viktória; Halm, Gabriella; Lueff, Sándor; Nahajevszky, Sarolta; Mikala, G.; Sipos, Andrea; Lovas, Nóra; Csukly, Zoltán; Mátrai, Zoltán; Tamáska, Júlia; Tordai, A.; Masszi, T.

In: Orvosi Hetilap, Vol. 148, No. 5, 04.02.2007, p. 203-210.

Research output: Contribution to journalArticle

Andrikovics, H, Szilvási, A, Meggyesi, N, Király, V, Halm, G, Lueff, S, Nahajevszky, S, Mikala, G, Sipos, A, Lovas, N, Csukly, Z, Mátrai, Z, Tamáska, J, Tordai, A & Masszi, T 2007, 'A 2-es típusú Janus tirozin kináz Val617Phe aktiváló pontmutáció szerepe és kimutatásának jelentosége myeloproliferatív szindrómában', Orvosi Hetilap, vol. 148, no. 5, pp. 203-210. https://doi.org/10.1556/OH.2007.27860
Andrikovics, H. ; Szilvási, Anikó ; Meggyesi, Nóra ; Király, Viktória ; Halm, Gabriella ; Lueff, Sándor ; Nahajevszky, Sarolta ; Mikala, G. ; Sipos, Andrea ; Lovas, Nóra ; Csukly, Zoltán ; Mátrai, Zoltán ; Tamáska, Júlia ; Tordai, A. ; Masszi, T. / A 2-es típusú Janus tirozin kináz Val617Phe aktiváló pontmutáció szerepe és kimutatásának jelentosége myeloproliferatív szindrómában. In: Orvosi Hetilap. 2007 ; Vol. 148, No. 5. pp. 203-210.
@article{27c2e1eafaab47b5a6c607f8db7a4acf,
title = "A 2-es t{\'i}pus{\'u} Janus tirozin kin{\'a}z Val617Phe aktiv{\'a}l{\'o} pontmut{\'a}ci{\'o} szerepe {\'e}s kimutat{\'a}s{\'a}nak jelentos{\'e}ge myeloproliferat{\'i}v szindr{\'o}m{\'a}ban",
abstract = "The Val617Phe point mutation of Janus kinase 2 gene is believed to participate in the pathogenesis of myeloproliferative syndrome characterised by the clonal alteration of hematopoetic stem cells. According to current results, the frequency ofVal617Phe activating mutation is around 80{\%} in polycythaemia vera, 35{\%} in essential thrombocythaemia, and 50{\%} in chronic idiopathic myelofibrosis. The diagnoses of polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis were so far based on the exclusion of secondary factors as well as bone marrow biopsy histology. The goal of the present work was to establish simple molecular genetic techniques for the routine testing of Janus kinase 2 gene Val617Phe mutation, and to compare the clinical phenotypes ofVal617Phe mutation positive and negative myeloproliferative syndromes. We employed the allele specific polymerase chain technique for detection of Val617Phe mutation in 252 patients with myeloproliferative syndrome. We measured Val617Phe frequency as 85,4{\%} (117/137) in polycytaemia vera, 56,6{\%} (56/99) in essential thrombocythaemia, and 87,5{\%} (14/16) in idiopathic myelofibrosis. We found significantly elevated hemoglobin levels and white blood cell counts (measured at the time of diagnosis) in Val617Phe-positive polycythaemia vera and essential thrombocythaemia patient groups compared to Val617Phe-negative patients. However, the frequencies of splenomegaly and other complications (thrombosis, bleeding, transformation to acute leukemia) were not significantly different between the mutation-positive and negative groups. In conclusion, the non-invasive mutation analysis of the Janus kinase 2 Val617Phe is suitable for routine laboratory application and helps the differential diagnosis of myeloproliferative syndrome. Althought the exact role of Val617Phe mutation testing has not yet been identified on the basis of a broad professional consensus, the testing is suggested in cases of erythrocytoses and thrombocytoses of unknown origin.",
keywords = "Essential thrombocythaemia, Janus kinase 2, Myeloproliferative disorders, Polycythaemia vera, V617F",
author = "H. Andrikovics and Anik{\'o} Szilv{\'a}si and N{\'o}ra Meggyesi and Vikt{\'o}ria Kir{\'a}ly and Gabriella Halm and S{\'a}ndor Lueff and Sarolta Nahajevszky and G. Mikala and Andrea Sipos and N{\'o}ra Lovas and Zolt{\'a}n Csukly and Zolt{\'a}n M{\'a}trai and J{\'u}lia Tam{\'a}ska and A. Tordai and T. Masszi",
year = "2007",
month = "2",
day = "4",
doi = "10.1556/OH.2007.27860",
language = "Hungarian",
volume = "148",
pages = "203--210",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "5",

}

TY - JOUR

T1 - A 2-es típusú Janus tirozin kináz Val617Phe aktiváló pontmutáció szerepe és kimutatásának jelentosége myeloproliferatív szindrómában

AU - Andrikovics, H.

AU - Szilvási, Anikó

AU - Meggyesi, Nóra

AU - Király, Viktória

AU - Halm, Gabriella

AU - Lueff, Sándor

AU - Nahajevszky, Sarolta

AU - Mikala, G.

AU - Sipos, Andrea

AU - Lovas, Nóra

AU - Csukly, Zoltán

AU - Mátrai, Zoltán

AU - Tamáska, Júlia

AU - Tordai, A.

AU - Masszi, T.

PY - 2007/2/4

Y1 - 2007/2/4

N2 - The Val617Phe point mutation of Janus kinase 2 gene is believed to participate in the pathogenesis of myeloproliferative syndrome characterised by the clonal alteration of hematopoetic stem cells. According to current results, the frequency ofVal617Phe activating mutation is around 80% in polycythaemia vera, 35% in essential thrombocythaemia, and 50% in chronic idiopathic myelofibrosis. The diagnoses of polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis were so far based on the exclusion of secondary factors as well as bone marrow biopsy histology. The goal of the present work was to establish simple molecular genetic techniques for the routine testing of Janus kinase 2 gene Val617Phe mutation, and to compare the clinical phenotypes ofVal617Phe mutation positive and negative myeloproliferative syndromes. We employed the allele specific polymerase chain technique for detection of Val617Phe mutation in 252 patients with myeloproliferative syndrome. We measured Val617Phe frequency as 85,4% (117/137) in polycytaemia vera, 56,6% (56/99) in essential thrombocythaemia, and 87,5% (14/16) in idiopathic myelofibrosis. We found significantly elevated hemoglobin levels and white blood cell counts (measured at the time of diagnosis) in Val617Phe-positive polycythaemia vera and essential thrombocythaemia patient groups compared to Val617Phe-negative patients. However, the frequencies of splenomegaly and other complications (thrombosis, bleeding, transformation to acute leukemia) were not significantly different between the mutation-positive and negative groups. In conclusion, the non-invasive mutation analysis of the Janus kinase 2 Val617Phe is suitable for routine laboratory application and helps the differential diagnosis of myeloproliferative syndrome. Althought the exact role of Val617Phe mutation testing has not yet been identified on the basis of a broad professional consensus, the testing is suggested in cases of erythrocytoses and thrombocytoses of unknown origin.

AB - The Val617Phe point mutation of Janus kinase 2 gene is believed to participate in the pathogenesis of myeloproliferative syndrome characterised by the clonal alteration of hematopoetic stem cells. According to current results, the frequency ofVal617Phe activating mutation is around 80% in polycythaemia vera, 35% in essential thrombocythaemia, and 50% in chronic idiopathic myelofibrosis. The diagnoses of polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis were so far based on the exclusion of secondary factors as well as bone marrow biopsy histology. The goal of the present work was to establish simple molecular genetic techniques for the routine testing of Janus kinase 2 gene Val617Phe mutation, and to compare the clinical phenotypes ofVal617Phe mutation positive and negative myeloproliferative syndromes. We employed the allele specific polymerase chain technique for detection of Val617Phe mutation in 252 patients with myeloproliferative syndrome. We measured Val617Phe frequency as 85,4% (117/137) in polycytaemia vera, 56,6% (56/99) in essential thrombocythaemia, and 87,5% (14/16) in idiopathic myelofibrosis. We found significantly elevated hemoglobin levels and white blood cell counts (measured at the time of diagnosis) in Val617Phe-positive polycythaemia vera and essential thrombocythaemia patient groups compared to Val617Phe-negative patients. However, the frequencies of splenomegaly and other complications (thrombosis, bleeding, transformation to acute leukemia) were not significantly different between the mutation-positive and negative groups. In conclusion, the non-invasive mutation analysis of the Janus kinase 2 Val617Phe is suitable for routine laboratory application and helps the differential diagnosis of myeloproliferative syndrome. Althought the exact role of Val617Phe mutation testing has not yet been identified on the basis of a broad professional consensus, the testing is suggested in cases of erythrocytoses and thrombocytoses of unknown origin.

KW - Essential thrombocythaemia

KW - Janus kinase 2

KW - Myeloproliferative disorders

KW - Polycythaemia vera

KW - V617F

UR - http://www.scopus.com/inward/record.url?scp=34249744337&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34249744337&partnerID=8YFLogxK

U2 - 10.1556/OH.2007.27860

DO - 10.1556/OH.2007.27860

M3 - Article

C2 - 17344140

AN - SCOPUS:34249744337

VL - 148

SP - 203

EP - 210

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 5

ER -