JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

Haematologica

Volumn 93, Issue 1, 2008, Pages 34-40

  Schmitt Graeff, Annette H ^a   Teo, Soon Siong ^b   Olschewski, Manfred ^c   Schaub, Franz ^b   Haxelmans, Sabine ^c   Kirn, Andreas ^a   Reinecke, Petra ^d   Germing, Ulrich ^d   Skoda, Radek C ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY OF FREIBURG   (Germany)

^d HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Bone marrow biopsy; JAK2 genotyping; Myelodysplastic syndrome; Prognosis; RARS T

Indexed keywords

JANUS KINASE 2; JAK2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BONE MARROW; BONE MARROW BIOPSY; CLINICAL ARTICLE; DNA EXTRACTION; DOCUMENTATION; ERYTHROCYTE COUNT; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LEUKOCYTE COUNT; MALE; MYELODYSPLASIA; POLYMERASE CHAIN REACTION; PREVALENCE; PROGNOSIS; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; SAMPLING; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; SURVIVAL; THROMBOCYTE; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THROMBOCYTOSIS; AGED; BIOSYNTHESIS; CYTOLOGY; ERYTHROCYTE; GENETICS; GENOTYPE; HOMOZYGOTE; METABOLISM; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROME; REFRACTORY ANEMIA; SIDEROBLASTIC ANEMIA;

AGED; AGED, 80 AND OVER; ANEMIA, REFRACTORY; ANEMIA, SIDEROBLASTIC; ERYTHROCYTES; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; THROMBOCYTOSIS;

EID: 38549176801     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11581     Document Type: Article

References (33)

1. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144-8.
2. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365: 1054-61.
3. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7:387-97.
4. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-90.
5. Cazzola M, Skoda R. Gain of function, loss of control - a molecular basis for chronic myeloproliferative disorders. Haematologica 2005;90:871-4.
6. Vainchenker W, Constantinescu SN. A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new classification of myeloproliferative diseases. Hematology (Am Soc Hematol Educ Program) 2005:195-200.
7. Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical"" myeloproliferative disorders and myelodysplastic syndromes. Blood 2005;106:1207-9.
8. Germing U, Gattermann N, Aivado M, Hildebrandt B, Aul C. Two types of acquired idiopathic sideroblastic anaemia (AISA): a time-tested distinction. Br J Haematol 2000;108:724-8.
9. Gupta R, Abdalla SH, Bain BJ. Thrombocytosis with sideroblastic erythropoiesis: a mixed myeloproliferative myelodysplastic syndrome. Leuk Lymphoma 1999;34:615-9.
10. Bain B, Vardiman JW, Imbert M, Pierre R. Myelodysplastic/ myeloproliferative disease, unclassifiable. In: Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. WHO Classification of Tumours: Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press 2001; 91-105.
11. Imbert M, Pierre R, Thiele J, Vardiman JW, Brunning RD, Flandrin G. Essential thrombocythemia. In: Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. WHO Classification of Tumours: Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press 2001; 105-112.
12. Bain B. Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease in older adults. Br J Haematol 2006;134:340.
13. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 2006;108:2173-81.
14. Remacha AF, Nomdedeu JF, Puget G, Estivill C, Sarda MP, Canals C, et al. Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica 2006;91:719-20.
15. Boissinot M, Garand R, Hamidou M, Hermouet S. The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood 2006;108:1781-2.
16. Wang SA, Hasserjian RP, Loew JM, Sechman EV, Jones D, Hao S, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features. Leukemia 2006;20:1641-4.
17. Renneville A, Quesnel B, Charpentier A, Terriou L, Crinquette A, Lai JL, et al. High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Leukemia 2006;20:2067-70.
18. Ceesay MM, Lea NC, Ingram W, Westwood NB, Gaken J, Mohamedali A, et al. The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 2006;20:2060-1.
19. Kralovics R, Teo SS, Li S, Theocharides A, Buser AS, Tichelli A, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood 2006;108:1377-80.
20. Shaw GR. Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults. Br J Haematol 2005;131:180-4.
21. Schmitt-Graeff A, Thiele J, Zuk I, Kvasnicka HM. Essential thrombocythemia with ringed sideroblasts: a heterogeneous spectrum of diseases, but not a distinct entity. Haematologica 2002;87:392-9.
22. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292-302.
23. Steensma DP, Caudill JS, Pardanani A, McClure RF, Lasho TL, Tefferi A. MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. Haematologica 2006;91[12 Suppl]: ECR57.
24. Thiele J, Kvasnicka HM, Orazi A. Bone marrow histopathology in myeloproliferative disorders - current diagnostic approach. Semin Hematol 2005;42:184-95.
25. Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, et al. Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT). Leuk Res 2007; 31:737-40.
26. Tefferi A, Spivak JL. Polycythemia vera: scientific advances and current practice. Semin Hematol 2005;42: 206-20.
27. Aul C, Giagounidis A, Germing U, Ganser A. Evaluating the prognosis of patients with myelodysplastic syndromes. Ann Hematol 2002;81: 485-97.
28. Greenberg PL, Young NS, Gattermann N. Myelodysplastic syndromes. Hematology Am Soc Hematol Educ Program 2002:136-61.
29. + cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype. Blood 2006;108:337-45.
30. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005; 366:1945-53.
31. Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo I, Praloran V, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 2006;108:1865-7.
32. Tefferi A. Classification, diagnosis and management of myeloproliferative disorders in the JAK2V617F era. Hematology Am Soc Hematol Educ Program 2006. p. 240-5.
33. Campbell PJ, Griesshammer M, Dohner K, Dohner H, Kusec R, Hasselbalch HC, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 2006;107:2098-100.