Clinical significance of clonality assessment in JAK2V617F-negative essential thrombocythemia

Annals of Hematology

Volumn 91, Issue 10, 2012, Pages 1555-1562

  Martínez Avilés, Luz ^a,b   Álvarez Larrán, Alberto ^a,b   Besses, Carles ^a   Navarro, Gemma ^a   Torres, Erica ^a   Longarón, Raquel ^a   Angona, Anna ^a   Pedro, Carme ^a   Florensa, Lourdes ^a   Serrano, Sergi ^a,b   Bellosillo, Beatriz ^a,c  

^a HOSPITAL DEL MAR   (Spain)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

Clonality; Disease transformation; Essential thrombocythemia

Indexed keywords

ACENOCOUMAROL; ACETYLSALICYLIC ACID; ALPHA INTERFERON; ANAGRELIDE; BUSULFAN; HYDROXYUREA; PHOSPHORUS;

ADULT; AGED; ARTICLE; ASXL1 GENE; CHILD; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLONAL VARIATION; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE; HEMATOPOIESIS; HUMAN; HUMAN ANDROGEN RECEPTOR GENE; JAK2V617F GENE; MAJOR CLINICAL STUDY; MALE; MPL GENE; MUTATIONAL ANALYSIS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; TET2 GENE; THROMBOSIS; THROMBOTIC THROMBOCYTOPENIC PURPURA; TREATMENT INDICATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CLONE CELLS; COHORT STUDIES; FEMALE; FOLLOW-UP STUDIES; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; PHENYLALANINE; THROMBOCYTHEMIA, ESSENTIAL; VALINE; YOUNG ADULT;

EID: 84867335225     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-012-1502-6     Document Type: Article

References (22)

1. Antonioli E, Guglielmelli P, Pancrazzi A, Bogani C, Verrucci M, Ponziani V, Longo G, Bosi A, Vannucchi AM (2005) Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 19:1847-1849
2. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054-1061
3. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352:1779-1790
4. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7:387-397
5. Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo I, Praloran V, Boiret-Dupre N, Skoda RC, Hermouet S (2006) The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 108:1865-1867
6. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellström-Lindberg E, Tefferi A, Bloomfield CD (2009) The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 114:937-951
7. Levine RL, Belisle C, Wadleigh M, Zahreich D, Lee S, Chagnon P, Gilliland DG, Busque LX (2006) X-inactivation-based clonality analysis and quantitative JAKV617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal haematopoiesis. Blood 107:4139-4141
8. Antonioli E, Guglielmelli P, Pancrazzi A, Guerini V, Barosi G, Ruggeri M, Specchia G, Lo-Coco F, Delaini F, Villani L, Finotto S, Ammatuna E, Alterini R, Carrai V, Capaccioli G, Di Lollo S, Liso V, Rambaldi A, Bosi A, Barbui T (2008) Characteristics and clinical correlates of MPL 515 W>L/K mutation in essential thrombocythemia. Blood 112:844-847
9. Beer PA, Campbell PJ, Scott LM, Bench AJ, Erber WN, Bareford D, Wilkins BS, Reilly JT, Hasselbalch HC, Bowman R, Wheatley K, Buck G, Harrison CN, Green AR (2008) MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood 112:141-149
10. Boyd EM, Bench AJ, Goday-Fernández A, Anand S, Vaghela KJ, Beer P, Scott MA, Bareford D, Green AR, Huntly B, Erber WN (2010) Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. Br J Haematol 149:250-257
11. 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 (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108:3472-3476
12. Abdel-Wahab O (2011) Genetics of the myeloproliferative neoplasms. Curr Opin Hematol 18:117-123
13. Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas S, Dolgalev I, Heguy A, Paietta E, Le Beau MM, Beran M, Tallman MS, Ebert BL, Kantarjian HM, Stone RM, Gilliland DG, Crispino JD, Levine RL (2009) Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood 114:144-147
14. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, Kosmider O, Le Couedic JP, Robert AA, Lécluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA (2009) Mutation in TET2 in myeloid cancers. N Engl J Med 360:2289-2301
15. Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL (2009) TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 23:905-911
16. Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adélaïde J, Rey J, VainchenkerW, Bernard OA, Chaffanet M, Vey N, Birnbaum D, Mozziconacci MJ (2009) Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 23:2183-2186
17. Zamora L, Espinet B, Florensa L, Besses C, Bellosillo B, Sole F (2005) Clonality analysis by HUMARA assay in Spanish females with essential thrombocythemia and polycythemia vera. Haematologica 90:259-261
18. Martínez-Aviles L, Besses C, Alvarez-Larran A, Torres E, Serrano S, Bellosillo B (2011) TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms. Ann Hematol 91(4):533-41
19. Barosi G, Birgegard G, Finazzi G, Griesshammer M, Harrison C, Hasselbalch HC, Kiladjian JJ, Lengfelder E, McMullin MF, Passamonti F, Reilly JT, Vannucchi AM, Barbui T (2009) Response criteria for essential thrombocythemia and polycythemia vera: result of a European LeukemiaNet consensus conference. Blood 113:4829-4833
20. Ghilardi N, Wiestner A, Kikuchi M, Oshaka A, Skoda RC (1999) Hereditary thrombocythemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. Br J Haematol 107:310-316
21. Ohashi H, Arita K, Fukami S, Oguri K, Nagai H, Yokozawa T, Hotta T, Hanada S (2009) Two rare MPL gene mutations in patients with essential thrombocythemia. Int J Hematol 90:431-432
22. Stein B,Williams DM, O'Keefe C, Ingersll R, Spivak JL, Verma A, Maciejewski JP, McDevitt MA, Moliterno A (2011) Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythermia vera myelofibrosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes. Haematologica 96:1462-1469