Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations

被引：33
作者：
Szpurka, Hadrian [1 ]
Jankowska, Anna M. [1 ]
Makishima, Hideki [1 ]
Bodo, Juraj [2 ]
Bejanyan, Nelli [1 ]
Hsi, Eric D. [2 ]
Sekeres, Mikkael A.
Maciejewski, Jaroslaw P. [1 ]
机构：
[1] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44195 USA
[2] Cleveland Clin, Taussig Canc Inst, Dept Clin Pathol, Cleveland, OH 44195 USA
来源：
LEUKEMIA RESEARCH | 2010年 / 34卷 / 08期
关键词：
RARS-T; TET2; ASXL1; JAK2; V617F; MPLW515L; STAT5; JAK2 V617F MUTATION; ACUTE MYELOID-LEUKEMIA; RINGED SIDEROBLASTS; REFRACTORY-ANEMIA; ESSENTIAL THROMBOCYTHEMIA; MARKED THROMBOCYTOSIS; MYELOPROLIFERATIVE NEOPLASMS; MYELODYSPLASTIC SYNDROMES; UNIPARENTAL DISOMY; POLYCYTHEMIA-VERA;
D O I：
10.1016/j.leukres.2010.02.033
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
While a majority of patients with refractory anemia with ring sideroblasts and thrombocytosis harbor JAK2V617F and rarely MPLW515L, JAK2/MPL-negative cases constitute a diagnostic problem. 23 RARS-T cases were investigated applying immunohistochemical phospho-STAT5, sequencing and SNP-A-based karyotyping. Based on the association of TET2/ASXL1 mutations with MDS/MPN we studied molecular pattern of these genes. Two patients harbored ASXL1 and another 2 TET2 mutations. Phospho-STAT5 activation was present in one mutated TET2 and ASXL1 case. JAK2V617F/MPLW515L mutations were absent in TET2/ASXL1 mutants, indicating that similar clinical phenotype can be produced by various MPN-associated mutations and that additional unifying lesions may be present in RARS-T. (C) 2010 Elsevier Ltd. All rights reserved.
引用
收藏
页码：969 / 973
页数：5
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