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

Hadrian Szpurka, Anna M. Jankowska, Hideki Makishima, Juraj Bodo, Nelli Bejanyan, Eric D. Hsi, Mikkael A. Sekeres, Jaroslaw P. Maciejewski

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)969-973
Number of pages5
JournalLeukemia research
Issue number8
StatePublished - Aug 2010
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported by NIH R01 HL082983 (JPM), U54 RR019391 (JPM), K24 HL077522 (JPM), Award from AA & MDS International Foundation and a charitable donation from the Robert Duggan Cancer Research Fund.


  • ASXL1
  • JAK2 V617F
  • MPL W515L
  • RARS-T
  • STAT5
  • TET2


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