European vs 2015-World Health Organization clinical molecular and pathological classification of myeloproliferative neoplasms  

作　　者：Jan Jacques Michiels Fransje Valster Jenne Wielenga Katrien Schelfout Hendrik De Raeve 

机构地区：[1]International Hematology and Blood- coagulation Research Center, Goodheart Institute and Foundation in Nature Medicine, European Working Group on Myeloproliferative Neoplasms [2]Department of Internal Medicine, BRAVIS Hospital [3]Department of Internal Medicine, Admiraal De Ruyter Hospital [4]Department of Pathology, BRAVIS Hospital [5]Department of Pathology OLV Hospital Aalst OLV Ziekenhuis [6]Department of Pathology, University Hospital

出　　处：《World Journal of Hematology》2015年第3期16-53,共38页世界血液学杂志

摘　　要：The BCR/ABL fusion gene or the Ph^1-chromosome in the t(9;22)(q34;q11)exerts a high tyrokinase acticity,which is the cause of chronic myeloid leukemia(CML).The1990 Hannover Bone Marrow Classification separated CML from the myeloproliferative disorders essential thrombocythemia(ET),polycythemia vera(PV)and chronic megakaryocytic granulocytic myeloproliferation(CMGM).The 2006-2008 European Clinical Molecular and Pathological(ECMP)criteria discovered 3variants of thrombocythemia:ET with features of PV(prodromal PV),"true"ET and ET associated with CMGM.The 2008 World Health Organization(WHO)-ECMP and 2014 WHO-CMP classifications defined three phenotypes of JAK2^(V617F)mutated ET:normocellular ET(WHO-ET),hypercelluar ET due to increased erythropoiesis(prodromal PV)and ET with hypercellular megakaryocytic-granulocytic myeloproliferation.The JAK2^(V617F)mutation load in heterozygous WHO-ET is low and associated with normal life expectance.The hetero/homozygous JAK2^(V617F)mutation load in PV and myelofibrosis is related to myeloproliferative neoplasm(MPN)disease burden in terms of symptomaticsplenomegaly,constitutional symptoms,bone marrow hypercellularity and myelofibrosis.JAK2 exon 12mutated MPN presents as idiopathic eryhrocythemia and early stage PV.According to 2014 WHO-CMP criteria JAK2 wild type MPL^(515)mutated ET is the second distinct thrombocythemia featured by clustered giant megakaryocytes with hyperlobulated stag-horn-like nuclei,in a normocellular bone marrow consistent with the diagnosis of"true"ET.JAK2/MPL wild type,calreticulin mutated hypercellular ET appears to be the third distinct thrombocythemia characterized by clustered larged immature dysmorphic megakaryocytes and bulky(bulbous)hyperchromatic nuclei consistent with CMGM or primary megakaryocytic granulocytic myeloproliferation.The BCR/ABL fusion gene or the Ph^1-chromosome in the t(9;22)(q34;q11) exerts a high tyrokinase acticity,which is the cause of chronic myeloid leukemia(CML).The1990 Hannover Bone Marrow Classification separated CML from the myeloproliferative disorders essential thrombocythemia(ET),polycythemia vera(PV) and chronic megakaryocytic granulocytic myeloproliferation(CMGM).The 2006-2008 European Clinical Molecular and Pathological(ECMP) criteria discovered 3variants of thrombocythemia:ET with features of PV(prodromal PV), "true" ET and ET associated with CMGM.The 2008 World Health Organization(WHO)-ECMP and 2014 WHO-CMP classifications defined three phenotypes of JAK2^(V617F) mutated ET:normocellular ET(WHO-ET),hypercelluar ET due to increased erythropoiesis(prodromal PV) and ET with hypercellular megakaryocytic-granulocytic myeloproliferation.The JAK2^(V617F) mutation load in heterozygous WHO-ET is low and associated with normal life expectance.The hetero/homozygous JAK2^(V617F) mutation load in PV and myelofibrosis is related to myeloproliferative neoplasm(MPN) disease burden in terms of symptomatic splenomegaly,constitutional symptoms,bone marrow hypercellularity and myelofibrosis.JAK2 exon 12 mutated MPN presents as idiopathic eryhrocythemia and early stage PV.According to 2014 WHO-CMP criteria JAK2 wild type MPL^(515) mutated ET is the second distinct thrombocythemia featured by clustered giant megakaryocytes with hyperlobulated stag-horn-like nuclei,in a normocellular bone marrow consistent with the diagnosis of "true" ET.JAK2/MPL wild type,calreticulin mutated hypercellular ET appears to be the third distinct thrombocythemia characterized by clustered larged immature dysmorphic megakaryocytes and bulky(bulbous) hyperchromatic nuclei consistent with CMGM or primary megakaryocytic granulocytic myeloproliferation.

关 键 词：MYELOPROLIFERATIVE disorders Essential THROMBOCYTHEMIA Primary megakaryocytic granulocytic myeloproliferation MYELOFIBROSIS JAK2V617F MUTATION MPL515 MUTATION CALRETICULIN MUTATION JAK2 wild type MYELOPROLIFERATIVE neoplasm Bone marrow pathology POLYCYTHEMIA vera 

分 类 号：R[医药卫生]