Report of a case of refractory anemia with ringed sideroblasts associated with marked thrombocytosis and literature review
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摘要: 目的:[HT]报告难治性贫血伴环状铁粒幼红细胞联合显著血小板增多 (RARS-T)1例附文献复习。方法:[HT]临床分析与复习相关文献。结果:[HT]RARS-T患者约60%存在JAK2-V617F基因突变,在WHO分类中仍暂归于骨髓增生异常综合征/骨髓增殖性疾病不能分类(MDS/MPD,U)中,目前该病尚无共识的治疗方案。结论:[HT]RARS-T同时具有RARS、ET的临床和病理特征表现,目前尚未成为独立的疾病实体。一些新的药物应用有望提高该病的治疗效果。Abstract: Objective:A report of 1 case of refractory anemia with ringed sideroblasts (RARS) associated with marked thrombocytosis(RARS-T) in our hospital and literature review.Method:Clinical analysis and review of relevant literature.Result:About 60% RARS-T patients has genetic mutation of JAK2-V617F,which has been assigned to the MDS/MPD-unclassifiable (MDS/MPD-U) subcategory as a provisional diagnosis in the new WHO classification scheme.The disease is with no consensus on the treatment regimen.Conclusion: (RARS-T) has clinical and pathologic features of both RARS and essential thrombocytosis (ET).It has not yet become an independent entity.Some of the new drug application is expected to improve the treatment of the disease.
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Key words:
- refractory anemia /
- thrombocytosis /
- case observation
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[1] VARDIMAN J W,BENNETT J M,BAIN B J,et al.Myelodysplastic/myeloproliferative neoplasm,unclassifiable[M]// SWERDLOW S H,CAMPO E,HARRIS N L,et al.WHO classification of tumours of haematopoietic and lymphoid tissues.4th Ed.Lyon,France: IARC Press:2008:85-86.
[2] 崔蕊,肖志坚.对难治性贫血伴环状铁粒幼红细胞联合显著血小板增多的认识现状[J].中华血液学杂志,2010,31(12):855-857.
[3] [KG*1]MALCOVATI L,DELLA PORTA M G,PIETRA D,et al.Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis[J].Blood,2009,114:3538-3545.
[4] [KG*1]RAYA J M,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[J].Int J Hematol,2008,88:387-395.
[5] [KG*1]GUREVICH I,LUTHRA R,KONOPLEV S N,et al.Refractory anemia with ring sideroblasts associated with marked thrombocytosis[J].Am J Clin Pathol, 2011,135:398-403.
[6] [KG*1]SCHMITT-GRAEFF A H,TEO S S,OLSCHEWSKI M,et al.JAK2 V617F mutation status identifies subtypes of refractory anaemia with ringed sideroblasts associated with marked thrombocytosis[J].Haematologica,2008,93:34-40.
[7] [KG*1]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[J].Leuk Res,2010,34:e69-e70.
[8] [KG*1]SZPURKA H,JANKOWSKA A M,MAKISHIMA H,et al.Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations[J].Leuk Res,2010,34:969-973.
[9] [KG*1]CEESAY M M,LEA N C,INGRAM W,et al.The JAK2 V617F mutation is rare in RARS but common in RARS-T[J].Leukemia,2006,20:2060-2061.
[10] 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[J].Blood,2006,108:2173-2181.
[11] HULS G,MULDER A B,ROSATI S,et al.Efficacy of single-agent lenalidomide in patients with JAK2(V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis[J].Blood,2010,116:180-182.
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