Refractory anemia with ring sideroblasts associated with marked thrombocytosis: A mixed group exhibiting a spectrum of morphologic findings

American Journal of Clinical Pathology

Volumn 135, Issue 3, 2011, Pages 398-403

  Gurevich, Inga ^a   Luthra, Raja ^a   Konoplev, Sergej N ^a   Yin, C Cameron ^a   Medeiros, L Jeffrey ^a   Lin, Pei ^a,b  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Anemia; JAK2; MDS MPN; Myelodysplastic myeloproliferative neoplasm; Ring sideroblasts; Thrombocytosis

Indexed keywords

HEMOGLOBIN; JANUS KINASE 2; JAK2 PROTEIN, HUMAN;

ADULT; AGED; ANEMIA; ARTICLE; BONE MARROW; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; LEUKOCYTE COUNT; LEUKOCYTOSIS; MALE; MEGAKARYOCYTE; MORPHOLOGY; PRIORITY JOURNAL; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS ASSOCIATED WITH MARKED THROMBOCYTOSIS; THROMBOCYTE COUNT; THROMBOCYTOSIS; BONE MARROW CELL; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; REFRACTORY ANEMIA; RETROSPECTIVE STUDY; SIDEROBLASTIC ANEMIA;

ADULT; AGED; AGED, 80 AND OVER; ANEMIA, REFRACTORY; ANEMIA, SIDEROBLASTIC; BONE MARROW CELLS; FEMALE; HUMANS; JANUS KINASE 2; LEUKOCYTOSIS; MALE; MIDDLE AGED; MUTATION; RETROSPECTIVE STUDIES; THROMBOCYTOSIS;

EID: 79954445810     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPT0B6VEQPRCOA     Document Type: Article

References (22)

1. Vardiman JW, Bennett JM, Bain BJ, et al. Myelodysplastic/ myeloproliferative neoplasm, unclassifiable. In: Swerdlow SH, Campo E, Harris NL, et al, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. Lyon, France: IARC Press; 2008: 85-86.
2. Szpurka H, Tiu R, Murugesan G, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood. 2006;108:2173-2181. (Pubitemid 44497497)
3. Remacha AF, Nomdedeu JF, Puget G, et al. Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiablerefractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2006;91:719-720. (Pubitemid 43799483)
4. Wang SA, Hasserjian RP, Loew JM, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features. Leukemia. 2006;20:1641-1644. (Pubitemid 44264118)
5. Boissinot M, Garand R, Hamidou M, et al. The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS) [letter]. Blood. 2006;108:1781-1782. (Pubitemid 44316158)
6. Ceesay MM, Lea NC, Ingram W, et al. The JAK2 V617F mutation is rare in RARS but common in RARS-T [letter]. Leukemia. 2006;20:2060-2061. (Pubitemid 44614905)
7. Renneville A, Quesnel B, Charpentier A, et al. High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Leukemia. 2006;20:2067-2070.
8. 9/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable. Blood. 2007;109:1334-1335. (Pubitemid 46220688)
9. W515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. Leukemia. 2008;22:453-455. (Pubitemid 351265131)
10. Thiele J, Kvasnicka HM, Facchetti F, et al. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica. 2005;90:1128-1132. (Pubitemid 41323513)
11. Lin P, Chen L, Luthra R, et al. Acute myeloid leukemia harboring t (8;21) (q22;q22): a heterogeneous disease with poor outcome in a subset of patients unrelated to secondary cytogenetic aberrations. Mod Pathol. 2008;21:1029-1036.
12. Lin P, Luthra R, Nussenzveig RH, et al. JAK2 V617F mutation is uncommon in patients with the 3q21q26 syndrome. Hum Pathol. 2010;41:758-762.
13. Millecker L, Lennon PA, Verstovsek S, et al. Distinct patterns of cytogenetic and clinical progression in chronic myeloproliferative neoplasms with or without JAK2 or MPL mutations. Cancer Genet Cytogenet. 2010;197:1-7.
14. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292-2302.
15. Raya JM, Arenillas L, Domingo A, 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;88:387-395.
16. Schmitt-Graeff A, Thiele J, Zuk I, et al. Essential thrombocythemia with ringed sideroblasts: a heterogeneous spectrum of diseases, but not a distinct entity. Haematologica. 2002;87:392-399. (Pubitemid 34297546)
17. Schmitt-Graeff AH, Teo SS, Olschewski M, et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2008;93:34-40. (Pubitemid 351156149)
18. Pich A, Godio L. Refractory anaemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) and JAK2 (V617F) mutation transformed to acute myeloid leukaemia with chromosomal evolution including monosomy 7 [letter]. Leuk Res. 2010;34:e69-e70.
19. Parganas E, Wang D, Stravopodis D, et al. Jak2 is essential for signaling through a variety of cytokine receptors. Cell. 1998;93:385-395. (Pubitemid 28232083)
20. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813-1817.
21. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148. (Pubitemid 40663494)
22. Delhommeau F, Jeziorowska D, Marzac C, et al. Molecular aspects of myeloproliferative neoplasms. Int J Hematol. 2010;91:165-173.