Classification and diagnosis of myeloproliferative neoplasms according to the 2008 World Health Organization criteria

International Journal of Hematology

Volumn 91, Issue 2, 2010, Pages 174-179

  Wadleigh, Martha ^a   Tefferi, Ayalew ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

JAK2V617F; Myeloproliferative neoplasms; WHO criteria

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; JANUS KINASE 2; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR;

CANCER CLASSIFICATION; CHRONIC MYELOID LEUKEMIA; EOSINOPHILIA; EOSINOPHILIC LEUKEMIA; GENE MUTATION; HEMATOLOGIC MALIGNANCY; HUMAN; MAST CELL; MOLECULAR GENETICS; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; POLYCYTHEMIA VERA; REVIEW; THROMBOCYTHEMIA; WORLD HEALTH ORGANIZATION;

GENETIC TESTING; HUMANS; JANUS KINASE 2; MYELOPROLIFERATIVE DISORDERS; WORLD HEALTH ORGANIZATION;

EID: 77950918284     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12185-010-0529-5     Document Type: Review

References (50)

1. W Dameshek 1951 Some speculations on the myeloproliferative syndromes Blood 6 372 5 1:STN:280:DyaG3M%2FltVGnsw%3D%3D 14820991
2. JW Vardiman NL Harris RD Brunning 2002 The World Health Organization (WHO) classification of the myeloid neoplasms Blood 100 2292 302 10.1182/blood-2002-04-1199 1:CAS:528:DC%2BD38XnvVGisrY%3D 12239137
3. Jaffe ES, Harris NL, Stein H, Vardiman JW. World Health Organization classification of tumours of hematopoietic and lymphoid tissues. Lyon: IARC Press; 2001.
4. PJ Fialkow 1982 Cell lineages in hematopoietic neoplasia studied with glucose-6-phosphate dehydrogenase cell markers J Cell Physiol Suppl 1 37 43 10.1002/jcp.1041130409 1:STN:280:DyaL387mslyhuw%3D%3D 7040420
5. PJ Fialkow GB Faguet RJ Jacobson K Vaidya S Murphy 1981 Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell Blood 58 916 9 1:STN:280:DyaL38%2Fkslarug%3D%3D 7296002
6. JW Adamson PJ Fialkow S Murphy JF Prchal L Steinmann 1976 Polycythemia vera: stem-cell and probable clonal origin of the disease N Engl J Med 295 913 6 1:STN:280:DyaE2s%2FhtFKhtw%3D%3D 967201
7. RJ Jacobson A Salo PJ Fialkow 1978 Agnogenic myeloid metaplasia: a clonal proliferation of hematopoietic stem cells with secondary myelofibrosis Blood 51 189 94 1:STN:280:DyaE1c%2FotFajuw%3D%3D 620081
8. J Kittur RA Knudson TL Lasho CM Finke N Gangat AP Wolanskyj, et al. 2007 Clinical correlates of JAK2V617F allele burden in essential thrombocythemia Cancer 109 2279 84 10.1002/cncr.22663 17440984 (Pubitemid 46801558)
9. K De Keersmaecker J Cools 2006 Chronic myeloproliferative disorders: a tyrosine kinase tale Leukemia 20 200 5 10.1038/sj.leu.2404064 16341034 (Pubitemid 43148653)
10. PC Nowell DA Hungerford 1960 Chromosome studies on normal and leukemic human leukocytes J Natl Cancer Inst 25 85 109 1:STN:280:DyaF3c7otVGmsQ%3D%3D 14427847
11. JD Rowley 1973 Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining Nature 243 290 3 10.1038/243290a0 1:STN:280:DyaE2c%2Fgs1eksw%3D%3D 4126434
12. TR Golub GF Barker M Lovett DG Gilliland 1994 Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation Cell 77 307 16 10.1016/0092-8674(94)90322-0 1:CAS:528:DyaK2cXksFCrtb0%3D 8168137 (Pubitemid 24138627)
13. J Cools DJ DeAngelo J Gotlib EH Stover RD Legare J Cortes, et al. 2003 A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome N Engl J Med 348 1201 14 10.1056/NEJMoa025217 1:CAS:528:DC%2BD3sXisVCqtrY%3D 12660384 (Pubitemid 36359296)
14. A Pardanani SR Brockman SF Paternoster HC Flynn RP Ketterling TL Lasho, et al. 2004 FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia Blood 104 3038 45 10.1182/blood-2004-03-0787 1:CAS:528:DC%2BD2cXhtVWhur%2FI 15284118 (Pubitemid 39507117)
15. S Xiao SR Nalabolu JC Aster J Ma L Abruzzo ES Jaffe, et al. 1998 FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome Nat Genet 18 84 7 10.1038/ng0198-84 1:STN:280:DyaK1c%2FosFyktQ%3D%3D 9425908 (Pubitemid 28027887)
16. AC Garcia-Montero M Jara-Acevedo C Teodosio ML Sanchez R Nunez A Prados, et al. 2006 KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients Blood 108 2366 72 10.1182/blood-2006-04-015545 1:CAS:528:DC%2BD28XhtVCgur%2FF 16741248 (Pubitemid 44497521)
17. PD Emanuel 2008 Juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia Leukemia 22 1335 42 10.1038/leu.2008.162 1:CAS:528:DC%2BD1cXosFSms7o%3D 18548091
18. RL Levine M Wadleigh J Cools BL Ebert G Wernig BJ Huntly, et al. 2005 Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis Cancer Cell 7 387 97 10.1016/j.ccr.2005.03.023 1:CAS:528:DC%2BD2MXjvFSku7o%3D 15837627 (Pubitemid 40544655)
19. EJ Baxter LM Scott PJ Campbell C East N Fourouclas S Swanton, et al. 2005 Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders Lancet 365 1054 61 1:CAS:528:DC%2BD2MXisFGrs7g%3D 15781101 (Pubitemid 40386783)
20. AV Jones S Kreil K Zoi K Waghorn C Curtis L Zhang, et al. 2005 Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders Blood 106 2162 8 10.1182/blood-2005-03-1320 1:CAS:528:DC%2BD2MXhtVWksLvF 15920007 (Pubitemid 41291734)
21. R Kralovics F Passamonti AS Buser SS Teo R Tiedt JR Passweg, et al. 2005 A gain-of-function mutation of JAK2 in myeloproliferative disorders N Engl J Med 352 1779 90 10.1056/NEJMoa051113 1:CAS:528:DC%2BD2MXjsFyhsLw%3D 15858187 (Pubitemid 40570926)
22. RL Levine M Loriaux BJ Huntly ML Loh M Beran E Stoffregen, et al. 2005 The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia Blood 106 3377 9 10.1182/blood-2005-05-1898 1:CAS:528:DC%2BD2MXht1ehsb7F 16081687 (Pubitemid 41609169)
23. C James V Ugo JP Le Couedic J Staerk F Delhommeau C Lacout, et al. 2005 A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera Nature 434 1144 8 10.1038/nature03546 1:CAS:528: DC%2BD2MXjsF2ltbk%3D 15793561 (Pubitemid 40663494)
24. LM Scott W Tong RL Levine MA Scott PA Beer MR Stratton, et al. 2007 JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis N Engl J Med 356 459 68 10.1056/NEJMoa065202 1:CAS:528:DC%2BD2sXht1ersrc%3D 17267906 (Pubitemid 46193073)
25. AD Pardanani RL Levine T Lasho Y Pikman RA Mesa M Wadleigh, et al. 2006 MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients Blood 108 3472 6 10.1182/blood-2006-04-018879 1:CAS:528: DC%2BD28Xht1ahsLzI 16868251
26. JW Vardiman J Thiele DA Arber RD Brunning MJ Borowitz A Porwit, et al. 2009 The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes Blood 114 937 51 10.1182/blood-2009-03-209262 1:CAS:528:DC%2BD1MXps1eit70%3D 19357394
27. M David NC Cross S Burgstaller A Chase C Curtis R Dang, et al. 2007 Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders Blood 109 61 4 10.1182/blood-2006-05-024828 1:CAS:528:DC%2BD2sXivVyrtL8%3D 16960151 (Pubitemid 46053044)
28. JV Jovanovic J Score K Waghorn D Cilloni E Gottardi G Metzgeroth, et al. 2007 Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia Blood 109 4635 40 10.1182/blood-2006-10-050054 1:CAS:528:DC%2BD2sXmt1Ogt7c%3D 17299092 (Pubitemid 46827752)
29. A Orazi U Germing 2008 The myelodysplastic/myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features Leukemia 22 1308 19 10.1038/leu.2008.119 1:STN:280:DC%2BD1cvltFCmuw%3D%3D 18480833
30. E Atallah R Nussenzveig CC Yin C Bueso-Ramos C Tam T Manshouri, et al. 2008 Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease- unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis Leukemia 22 1295 8 10.1038/sj.leu.2405054 1:CAS:528: DC%2BD1cXntVCjsb0%3D 18059483 (Pubitemid 351833812)
31. J Thiele HM Kvasnicka 2005 Hematopathologic findings in chronic idiopathic myelofibrosis Semin Oncol 32 380 94 10.1053/j.seminoncol.2005.04.010 16202684 (Pubitemid 41073751)
32. J Thiele HM Kvasnicka J Vardiman 2006 Bone marrow histopathology in the diagnosis of chronic myeloproliferative disorders: a forgotten pearl Best Pract Res Clin Haematol 19 413 37 10.1016/j.beha.2005.07.015 1:STN:280: DC%2BD28zmsF2ksg%3D%3D 16781481 (Pubitemid 43884244)
33. J Thiele HM Kvasnicka R Zankovich V Diehl 2001 The value of bone marrow histology in differentiating between early stage polycythemia vera and secondary (reactive) Polycythemias Haematologica 86 368 74 1:STN:280: DC%2BD38%2FgvFWjug%3D%3D 11325641 (Pubitemid 32428495)
34. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. WHO Classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008.
35. LR Wasserman 1968 The treatment of polycythemia. A panel discussion Blood 32 483 7 1:STN:280:DyaF1cvgslChug%3D%3D 5675980
36. S Murphy H Iland D Rosenthal J Laszlo 1986 Essential thrombocythemia: an interim report from the Polycythemia Vera Study Group Semin Hematol 23 177 82 1:STN:280:DyaL28zhsF2itQ%3D%3D 3749928
37. S Verstovsek RT Silver NC Cross A Tefferi 2006 JAK2V617F mutational frequency in polycythemia vera: 100%, >90%, less? Leukemia 20 2067 10.1038/sj.leu.2404379 1:STN:280:DC%2BD28nivFGisQ%3D%3D 16990780 (Pubitemid 44614909)
38. DP Steensma GW Dewald TL Lasho HL Powell RF McClure RL Levine, et al. 2005 The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes Blood 106 1207 9 10.1182/blood-2005-03-1183 1:CAS:528: DC%2BD2MXosVejsb0%3D 15860661 (Pubitemid 41129580)
39. I Melzner MA Weniger CK Menz P Moller 2006 Absence of the JAK2 V617F activating mutation in classical Hodgkin lymphoma and primary mediastinal B-cell lymphoma Leukemia 20 157 8 10.1038/sj.leu.2404036 1:STN:280: DC%2BD283hvFWmug%3D%3D 16331280
40. S Sulong M Case L Minto B Wilkins A Hall J Irving 2005 The V617F mutation in Jak2 is not found in childhood acute lymphoblastic leukaemia Br J Haematol 130 964 5 10.1111/j.1365-2141.2005.05697.x 16156866 (Pubitemid 43899737)
41. A Tefferi S Sirhan TL Lasho SM Schwager CY Li D Dingli, et al. 2005 Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia Br J Haematol 131 166 71 10.1111/j.1365-2141.2005.05743.x 1:CAS:528:DC%2BD2MXht1Wkt7zF 16197445 (Pubitemid 43899681)
42. RF McClure JD Hoyer M Mai 2006 The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants Hemoglobin 30 487 9 10.1080/03630260600868147 1:CAS:528:DC%2BD28XhtVamsL%2FI 16987804 (Pubitemid 44435290)
43. AP Wolanskyj TL Lasho SM Schwager RF McClure M Wadleigh SJ Lee, et al. 2005 JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance Br J Haematol 131 208 13 10.1111/j.1365-2141. 2005.05764.x 1:CAS:528:DC%2BD2MXht1Wkt73O 16197451 (Pubitemid 43899687)
44. A Tefferi TL Lasho SM Schwager DP Steensma RA Mesa CY Li, et al. 2005 The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates Br J Haematol 131 320 8 10.1111/j.1365-2141.2005.05776.x 1:CAS:528:DC%2BD2MXht1yisb%2FI 16225651 (Pubitemid 43899664)
45. Y Pikman BH Lee T Mercher E McDowell BL Ebert M Gozo, et al. 2006 MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia PLoS Med 3 e270 10.1371/journal.pmed.0030270 16834459 (Pubitemid 44125998)
46. P Sidon H El Housni B Dessars P Heimann 2006 The JAK2V617F mutation is detectable at very low level in peripheral blood of healthy donors Leukemia 20 1622 10.1038/sj.leu.2404292 1:STN:280:DC%2BD28rgt1aluw%3D%3D 16775613 (Pubitemid 44264108)
47. M Messinezy NB Westwood I El-Hemaidi JT Marsden RS Sherwood TC Pearson 2002 Serum erythropoietin values in erythrocytoses and in primary thrombocythaemia Br J Haematol 117 47 53 10.1046/j.1365-2141.2002.03386.x 1:CAS:528:DC%2BD38XjvFGlsLw%3D 11918532 (Pubitemid 34304420)
48. P Mossuz F Girodon M Donnard V Latger-Cannard I Dobo N Boiret, et al. 2004 Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis Haematologica 89 1194 1198 1:CAS:528:DC%2BD2cXhtVGjsrrP 15477203
49. S Schnittger U Bacher C Haferlach D Beelen P Bojko D Burkle, et al. 2009 Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis Haematologica 94 141 4 10.3324/haematol.13224 19029146
50. AM Vannucchi E Antonioli P Guglielmelli A Pancrazzi V Guerini G Barosi, et al. 2008 Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia Blood 112 844 7 10.1182/blood-2008-01-135897 1:CAS:528:DC%2BD1cXpsVais7Y%3D 18519816