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

页码：969 / 973

页数：5

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