Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

Haematologica

Volumn 97, Issue 7, 2012, Pages 1036-1041

  Broseus, Julien ^a   Florensa, Lourdes ^b   Zipperer, Esther ^c   Schnittger, Susanne ^d   Malcovati, Luca ^e   Richebourg, Steven ^f   Lippert, Eric ^g   Cermak, Jaroslav ^h   Evans, Jyoti ⁱ   Mounier, Morgane ^j   Raya, José Maria ^k   Bailly, François ^a   Gattermann, Norbert ^c   Haferlach, Torsten ^d   Garand, Richard ^f   Allou, Kaoutar ^g   Besses, Carlos ^b   Germing, Ulrich ^c   Haferlach, Claudia ^d   Travaglino, Erica ^e   Luno, Elisa ^l   Pinan, Maria Angeles ^m   Arenillas, Leonor ^b   Rozman, Maria ⁿ   Sirvent, Maria Luz Perez ^o   Favre, Bernardine ^a   Guy, Julien ^a   Alonso, Esther ^p   Ahwij, Nuhri ^q   Jerez, Andrés ^r   Hermouet, Sylvie ^f   Maynadié, Marc ^a,j   Cazzola, Mario ^e   Girodon, François ^a,j   more..

^a HÔPITAL DU BOCAGE   (France)

^b HOSPITAL DEL MAR   (Spain)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g UNIVERSITÉ DE BORDEAUX   (France)

^h INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

ⁱ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^j UNIVERSITÉ DE BOURGOGNE   (France)

^k HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^l Hematología Hospital   (Spain)

^m HOSPITAL DE CRUCES   (Spain)

ⁿ INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^o HOSPITAL UNIVERSITARIO LA FE   (Spain)

^p HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^q DIJON UNIVERSITY HOSPITAL   (France)

^r HOSPITAL MORALES MESEGUER   (Spain)

more..

Author keywords

Clinical course; Essential thrombocythemia; Refractory anemia; Ring sideroblasts; Thrombocytosis

Indexed keywords

ANTITHROMBOCYTIC AGENT; ERYTHROPOIETIN; JANUS KINASE 2;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ARTICLE; CYTOREDUCTIVE SURGERY; DISEASE FREE SURVIVAL; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MIXED MYELODYSPLASTIC MYELOPROLIFERATIVE DISEASE; MUTATION; OVERALL SURVIVAL; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; RETROSPECTIVE STUDY; THROMBOCYTE COUNT; THROMBOCYTHEMIA; THROMBOCYTOSIS; THROMBOSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANEMIA, REFRACTORY; ANEMIA, SIDEROBLASTIC; BLOOD PLATELETS; EUROPE; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; PLATELET COUNT; RETROSPECTIVE STUDIES; RISK FACTORS; SURVIVAL ANALYSIS; THROMBOCYTHEMIA, ESSENTIAL; THROMBOCYTOSIS;

EID: 84863971025     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.053918     Document Type: Article

References (30)

1. Vardiman JW, Bennett JM, Bain BJ, Baumann I, Thiele J, Orazi A. Myelodysplastic/myeloproliferative neoplasms, unclassifiable. Lyon: IARC;2008.
2. Vardiman JW, Brunning RD, Arber DA, et al. Introduction and overview of the classification of the myeloid neoplasms. Lyon: IARC;2008.
3. Orazi A, Bennett JM, Germing U, Brunning RD, Bain BJ, Thiele J. Chronic myelomonocytic leukaemia. Lyon: IARC;2008.
4. Vardiman JW, Bennett JM, Bain BJ, Brunning RD, Thiele J. Atypical chronic myeloid leukaemia, BCR-ABL1 negative. Lyon: IARC;2008.
5. Baumann I, Bennett JM, Niemeyer CM, Thiele J, Shannon K. Juvenile myelomonocytic leukaemia. Lyon: IARC;2008.
6. Cazzola M, Invernizzi R. Sideroblastic anemias. Philadelphia: Mosby Elsevier;2005.
7. Hasserjian RP, Gattermann N, Bennett JM, Brunning RD, Thiele J. Refractory anemia with ringed sideroblasts. Lyon: IARC;2008.
8. Malcovati L, Porta MG, Pascutto C, Invernizzi R, Boni M, Travaglino E, et al. Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol. 2005;23 (30):7594-603.
9. 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(5):1781-2.
10. 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(11):2060-1.
11. Flach J, Dicker F, Schnittger S, Kohlmann A, Haferlach T, Haferlach C. Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. Haematologica. 2010;95(3):518-9.
12. Gattermann N, Billiet J, Kronenwett R, Zipperer E, Germing U, Nollet F, et al. High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count>600x109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable. Blood. 2007;109(3):1334-5.
13. Hellstrom-Lindberg E, Cazzola M. The role of JAK2 mutations in RARS and other MDS. Hematology Am Soc Hematol Educ Program. 2008:52-9.
14. Malcovati L, Della Porta MG, Pietra D, Boveri E, Pellagatti A, Galli A, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood. 2009; 114(17):3538-45.
15. Raya JM, Arenillas L, Domingo A, Bellosillo B, Gutierrez G, Luno E, et al. Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status. Int J Hematol. 2008;88 (4):387-95.
16. 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(5):719-20.
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(11):2067-70.
18. Schmitt-Graeff AH, Teo SS, Olschewski M, Schaub F, Haxelmans S, Kirn A, et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2008;93 (1):34-40.
19. Schnittger S, Bacher U, Haferlach C, Dengler R, Krober A, Kern W, et al. Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. Leukemia. 2008;22(2):453-5.
20. Szpurka H, Gondek LP, Mohan SR, Hsi ED, Theil KS, Maciejewski JP. UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation. Leukemia. 2009;23(3):610-4.
21. 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(7):2173-81.
22. 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(9):1641-4.
23. Vercauteren SM, Spronk HM, Karsan A, Young S, Nevill T, Coupland R. Transformation of RARS to JAK V617F positive RARS with thrombocytosis (RARS-T). Blood. 2010;e-letter, April 9, 2010.
24. Wardrop D, Steensma DP. Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category? Br J Haematol. 2009; 144(6):809-17.
25. 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(6):1865-7.
26. 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(9501):1945-53.
27. Girodon F, Schaeffer C, Cleyrat C, Mounier M, Lafont I, Santos FD, et al. Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy. Haematologica. 2008;93(11):1723-7.
28. Atallah E, Nussenzveig R, Yin CC, Bueso-Ramos C, Tam C, Manshouri T, et al. 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. 2008;22 (6):1295-8.
29. Shaw GR. Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/ myeloproliferative disease of older adults. Br J Haematol. 2005;131(2):180-4.
30. Huls G, Mulder AB, Rosati S, van de Loosdrecht AA, Vellenga E, de Wolf JT. Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. Blood. 2010;116(2):180-2.