Detection of the single hotspot mutation in the JH2 pseudokinase domain of Janus kinase 2 in bone marrow trephine biopsies derived from chronic myeloproliferative disorders.

The Journal of Molecular Diagnostics : JMD
Oliver BockH Kreipe

Abstract

The recent discovery of a single point mutation in the JH2 pseudokinase domain of Janus kinase 2 (JAK2) in a considerable fraction of patients has shed light on the molecular pathomechanism in Philadelphia chromosome-negative chronic myeloproliferative disorders (Ph- CMPDs). We established a robust and reliable method for detection of the JAK2 mutation in bone marrow cells derived from archival bone marrow trephines based on polymerase chain reaction and subsequent restriction site analysis. In a series of proven Ph- CMPDs classified according to World Health Organization criteria (n = 79), we detected the JAK2 mutation in 90% of polycythemia vera, 22% of cellular prefibrotic chronic idiopathic myelofibrosis, 60% of advanced chronic idiopathic myelofibrosis, and 27% of essential thrombocythemia. JAK2 mutation was not detected in Ph+ chronic myeloid leukemia (n = 5), acute myeloid leukemia (n = 10), acute lymphoblastic leukemia (n = 10), secondary erythrocytosis (n = 10), or normal bone marrow (n = 10). Restriction site analysis was also suitable for unfixed cell populations derived from peripheral blood and bone marrow aspirates. Besides providing support in the differential diagnosis of reactive versus neoplastic myeloprolifer...Continue Reading

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Sep 10, 2003·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Oliver BockHans Kreipe
Apr 29, 2005·The New England Journal of Medicine·Robert KralovicsRadek C Skoda

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Citations

Oct 23, 2012·Der Pathologe·L Quintanilla-MartinezF Fend
Oct 31, 2008·Journal of Thrombosis and Thrombolysis·Kais HusseinOliver Bock
Jun 26, 2007·Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology·Kais HusseinHans Kreipe
Sep 2, 2006·Blood·Xuesong XuZhizhuang Joe Zhao
Jun 6, 2013·European Journal of Human Genetics : EJHG·Kais HusseinHolger Cario
Mar 17, 2010·American Journal of Clinical Pathology·Jeffery M KlcoJohn L Frater
May 19, 2007·American Journal of Clinical Pathology·Angela Y C TanAlexander Dobrovic
Feb 5, 2008·Progress in Histochemistry and Cytochemistry·Falko FendStephan Dirnhofer
Oct 22, 2009·American Journal of Hematology·Hans Michael Kvasnicka, Juergen Thiele
Nov 3, 2009·Histopathology·Bridget S Wilkins, David M Clark
Nov 16, 2006·European Journal of Haematology·Kais HusseinHans Kreipe
Apr 30, 2010·Analytical and Bioanalytical Chemistry·Jessica K KonstantouJan Traeger-Synodinos

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