Uses and abuses of JAK2 and MPL mutation tests in myeloproliferative neoplasms: A paper from the 2010 William Beaumont Hospital Symposium on Molecular Pathology

Journal of Molecular Diagnostics

Volumn 13, Issue 5, 2011, Pages 461-466

  Tefferi, Ayalew ^a   Noel, Pierre ^b   Hanson, Curtis A ^a  

^a MAYO CLINIC   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; THROMBOPOIETIN RECEPTOR;

ALGORITHM; ALLELE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ERYTHROCYTOSIS; EXON; GENE MUTATION; GRANULOCYTOSIS; HUMAN; HUMAN TISSUE; MYELOPROLIFERATIVE DISORDER; PROGNOSIS; QUANTITATIVE ANALYSIS; REVIEW; THROMBOCYTOSIS; TREATMENT RESPONSE; VEIN THROMBOSIS; VIRUS ONCOGENE;

EID: 82755191711     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2011.05.007     Document Type: Review

References (59)

1. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellstrom-Lindberg E, Tefferi A, Bloomfield CD: The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009, 114:937-951
2. Swerdlow SH Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France; IARC Press, 2008
3. Tefferi A: The history of myeloproliferative disorders: before and after Dameshek. Leukemia 2008, 22:3-13
4. Tefferi A: Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010, 24:1128-1138
5. Patnaik MM, Lasho TL, Finke CM, Gangat N, Caramazza D, Holtan SG, Pardanani A, Knudson RA, Ketterling RP, Chen D, Hoyer JD, Hanson CA, Tefferi A: WHO-defined 'myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2. MPL and IDH mutations. Leukemia 2010, 24:1283-1289
6. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, Sekeres MA, Maciejewski JP: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 2006, 108:2173-2181 (Pubitemid 44497497)
7. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A: MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006, 108:3472-3476
8. Tefferi A, Skoda R, Vardiman JW: Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. Nature Rev 2009, 6:627-637
9. Kvasnicka HM, Thiele J: Prodromal myeloproliferative neoplasms: the 2008 WHO classification. Am J Hematol 2010, 85:62-69
10. Thiele J, Kvasnicka HM, Vardiman J: Bone marrow histopathology in the diagnosis of chronic myeloproliferative disorders: a forgotten pearl. Best Pract Res Clin Haematol 2006, 19:413-437 (Pubitemid 43884244)
11. Thiele J, Kvasnicka HM, Vardiman JW, Orazi A, Franco V, Gisslinger H, Birgegard G, Griesshammer M, Tefferi A: Bone marrow fibrosis and diagnosis of essential thrombocythemia (letter to the editor). J Clin Oncol 2009, 27:e220-221; author reply e222-223
12. Wilkins BS, Erber WN, Bareford D, Buck G, Wheatley K, East CL, Paul B, Harrison CN, Green AR, Campbell PJ: Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood 2008, 111:60-70
13. Tefferi A: Essential thrombocythemia, polycythemia vera, and myelofibrosis: current management and the prospect of targeted therapy. Am J Hematol 2008, 83:491-497
14. Tefferi A: Myelofibrosis with myeloid metaplasia. N Engl J Med 2000, 342:1255-1265
15. Landolfi R, Marchioli R, Kutti J, Gisslinger H, Tognoni G, Patrono C, Barbui T: Efficacy and safety of low-dose aspirin in polycythemia vera. N Engl J Med 2004, 350:114-124 (Pubitemid 38056222)
16. Gangat N, Caramazza D, Vaidya R, George G, Begna KH, Schwager SM, Van Dyke DL, Hanson CA, Wu W, Pardanani A, Cervantes F, Passamonti F, Tefferi A: DIPSS-Plus: a refined Dynamic International Prognostic Scoring System (DIPSS) for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count and transfusion status. J Clin Oncol 201129:392-397
17. Schaub FX, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A, Skoda RC: Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood 2010, 115:2003-2007
18. Gery S, Cao Q, Gueller S, Xing H, Tefferi A, Koeffler HP: Lnk inhibits myeloproliferative disorder-associated JAK2 mutant. JAK2V617F J Leukoc Biol 2009, 85:957-965
19. Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J: Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood 2010, 116:988-992
20. Pardanani A, Lasho T, Finke C, Oh ST, Gotlib J, Tefferi A: LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2. IDH, JAK2 or MPL mutations. Leukemia 2010, 24:1713-1718
21. Lasho TL, Pardanani A, Tefferi A: LNK mutations in JAK2 mutationnegative erythrocytosis. N Engl J Med 2010, 363:1189-1190
22. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C, Kreil S, Jones A, Score J, Metzgeroth G, Oscier D, Hall A, Brandts C, Serve H, Reiter A, Chase AJ, Cross NC: Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009, 113:6182-6192
23. Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S, Tamura A, Honda H, Sakata-Yanagimoto M, Kumano K, Oda H, Yamagata T, Takita J, Gotoh N, Nakazaki K, Kawamata N, Onodera M, Nobuyoshi M, Hayashi Y, Harada H, Kurokawa M, Chiba S, Mori H, Ozawa K, Omine M, Hirai H, Nakauchi H, Koeffler HP, Ogawa S: Gain-offunction of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 2009, 460:904-908
24. Tefferi A, Lasho TL, Abdel-Wahab O, Guglielmelli P, Patel J, Caramazza D, Pieri L, Finke CM, Kilpivaara O, Wadleigh M, Mai M, McClure RF, Gilliland DG, Levine RL, Pardanani A, Vannucchi AM: IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 2010, 24:1302-1309
25. Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, Cross JR, Fantin VR, Hedvat CV, Perl AE, Rabinowitz JD, Carroll M, Su SM, Sharp KA, Levine RL, Thompson CB: The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 2010, 17:225-234
26. Trageser D, Iacobucci I, Nahar R, Duy C, von Levetzow G, Klemm L, Park E, Schuh W, Gruber T, Herzog S, Kim YM, Hofmann WK, Li A, Storlazzi CT, Jack HM, Groffen J, Martinelli G, Heisterkamp N, Jumaa H, Muschen M: Pre-B cell receptor-mediated cell cycle arrest in Philadelphia chromosome-positive acute lymphoblastic leukemia requires IKAROS function. J Exp Med 2009, 206:1739-1753
27. Jager R, Gisslinger H, Passamonti F, Rumi E, Berg T, Gisslinger B, Pietra D, Harutyunyan A, Klampfl T, Olcaydu D, Cazzola M, Kralovics R: Deletions of the transcription factor Ikaros in myeloproliferative neoplasms. Leukemia 2010, 24:1290-1298
28. Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y, Agarwal S, Iyer LM, Liu DR, Aravind L, Rao A: Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009, 324:930-935
29. Ko M, Huang Y, Jankowska AM, Pape UJ, Tahiliani M, Bandukwala HS, An J, Lamperti ED, Koh KP, Ganetzky R, Liu XS, Aravind L, Agarwal S, Maciejewski JP, Rao A: Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 2010, 468:839-843
30. Fisher CL, Pineault N, Brookes C, Helgason CD, Ohta H, Bodner C, Hess JL, Humphries RK, Brock HW: Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood 2010, 115:38-46
31. Lee SW, Cho YS, Na JM, Park UH, Kang M, Kim EJ, Um SJ: ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. J Biol Chem 2010, 285:18-29
32. Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J, Vainchenker W, Bernard OA, Chaffanet M, Vey N, Birnbaum D, Mozziconacci MJ: Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 2009, 23:2183-2186
33. Abdel-Wahab O, Pardanani A, Patel J, Lasho T, Heguy A, Levine R, Tefferi A: Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms (abstract). Blood 2010, 116:3070
34. Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC: Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 2010, 42:722-726
35. Stegelmann F, Bullinger L, Schlenk RF, Paschka P, Griesshammer M, Blersch C, Kuhn S, Schauer S, Dohner H, Dohner K: DNMT3A mutations in myeloproliferative neoplasms. Leukemia 2001, [Epub ahead of press]doi:10.1038/ leu.2011.77
36. Abdel-Wahab O, Pardanani A, Rampal R, Lasho TL, Levine RL, Tefferi A: DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms (letter to the editor). Leukemia 2011, 25:1219-1220
37. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, Garcon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W: A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434:1144-1148 (Pubitemid 40663494)
38. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, Deangelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M, Gilliland DG, Levine RL: MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006, 3:e270
39. Bersenev A, Wu C, Balcerek J, Jing J, Kundu M, Blobel GA, Chikwava KR, Tong W: Lnk constrains myeloproliferative diseases in mice. J Clin Invest 2010, 120:2058-2069
40. Vannucchi AM, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A: Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia 2008, 22:1299-1307
41. Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, Gilliland DG, Tefferi A: The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 2005, 106:1207-1209 (Pubitemid 41129580)
42. Kiladjian JJ, Cervantes F, Leebeek FW, Marzac C, Cassinat B, Chevret S, Cazals-Hatem D, Plessier A, Garcia-Pagan JC, Murad SD, Raffa S, Janssen HL, Gardin C, Cereja S, Tonetti C, Giraudier S, Condat B, Casadevall N, Fenaux P, Valla DC: The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood 2008, 111:4922-4929
43. Dentali F, Squizzato A, Brivio L, Appio L, Campiotti L, Crowther M, Grandi AM, Ageno W: JAK2V617F mutation for the early diagnosis of Phmyeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis. Blood 2009, 113:5617-5623
44. Pardanani A, Lasho TL, Hussein K, Schwager SM, Finke CM, Pruthi RK, Tefferi A: JAK2V617F mutation screening as part of the hypercoagulable work-up in the absence of splanchnic venous thrombosis or overt myeloproliferative neoplasm: assessment of value in a series of 664 consecutive patients. Mayo Clin Proc 2008, 83:457-459 (Pubitemid 351536475)
45. Pardanani A, Lasho TL, Schwager S, Finke C, Hussein K, Pruthi RK, Tefferi A: JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder (letter to the editor). Leukemia 2007, 21:1828-1829 (Pubitemid 47086776)
46. Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A: Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007, 21:1960-1963 (Pubitemid 47299970)
47. Larsen TS, Pallisgaard N, Moller MB, Hasselbalch HC: Quantitative assessment of the JAK2 V617F allele burden: equivalent levels in peripheral blood and bone marrow (letter to the editor). Leukemia 2008, 22:194-195
48. James C, Delhommeau F, Marzac C, Teyssandier I, Couedic JP, Giraudier S, Roy L, Saulnier P, Lacroix L, Maury S, Tulliez M, Vainchenker W, Ugo V, Casadevall N: Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia 2006, 20:350-353 (Pubitemid 43148676)
49. Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A, Ferrari M, Gisslinger H, Kralovics R, Cremonesi L, Skoda R, Cazzola M: Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 2008, 111:1686-1689 (Pubitemid 351213460)
50. Martinaud C, Brisou P, Mozziconacci MJ: Is the JAK2(V617F) mutation detectable in healthy volunteers? (letter to the editor). Am J Hematol 2010, 85:287-288
51. Tefferi A, Sirhan S, Lasho TL, Schwager SM, Li CY, Dingli D, Wolanskyj AP, Steensma DP, Mesa R, Gilliland DG: Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol 2005, 131:166-171 (Pubitemid 43899681)
52. Scott LM, Scott MA, Campbell PJ, Green AR: Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006, 108:2435-2437 (Pubitemid 44497530)
53. Quintas-Cardama A, Kantarjian H, Manshouri T, Luthra R, Estrov Z, Pierce S, Richie MA, Borthakur G, Konopleva M, Cortes J, Verstovsek S: Pegylated interferon alfa-2a yields high rates of hematologic and molecular response in patients with advanced essential thrombocythemia and polycythemia vera. J Clin Oncol 2009, 27:5418-5424
54. Quintas-Cardama A, Kantarjian HM, Manshouri T, Thomas D, Cortes J, Ravandi F, Garcia-Manero G, Ferrajoli A, Bueso-Ramos C, Verstovsek S: Lenalidomide plus prednisone results in durable clinical, histopathologic, and molecular responses in patients with myelofibrosis. J Clin Oncol 2009, 27:4760-4766
55. Tefferi A, Lasho TL, Mesa RA, Pardanani A, Ketterling RP, Hanson CA: Lenalidomide therapy in del(5)(q31)-associated myelofibrosis: cytogenetic and JAK2V617F molecular remissions (letter to the editor). Leukemia 2007, 21:1827-1828 (Pubitemid 47086775)
56. Kroger N, Badbaran A, Holler E, Hahn J, Kobbe G, Bornhauser M, Reiter A, Zabelina T, Zander AR, Fehse B: Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood 2007, 109:1316-1321 (Pubitemid 46220685)
57. Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, Roncoroni E, Astori C, Merli M, Boggi S, Pascutto C, Lazzarino M, Cazzola M: A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia 2010, 24:1574-1579
58. Tefferi A, Lasho TL, Huang J, Finke C, Mesa RA, Li CY, Wu W, Hanson CA, Pardanani A: Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival. Leukemia 2008, 22:756-761 (Pubitemid 351559282)
59. Guglielmelli P, Barosi G, Specchia G, Rambaldi A, Lo Coco F, Antonioli E, Pieri L, Pancrazzi A, Ponziani V, Delaini F, Longo G, Ammatuna E, Liso V, Bosi A, Barbui T, Vannucchi AM: Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood 2009, 114:1477-1483