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

doi:10.1016/j.leukres.2010.02.033

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 journal › Article › peer-review

37 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	969-973
Number of pages	5
Journal	Leukemia research
Volume	34
Issue number	8
DOIs	https://doi.org/10.1016/j.leukres.2010.02.033
State	Published - Aug 2010
Externally published	Yes

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.

Keywords

ASXL1
JAK2 V617F
MPL W515L
RARS-T
STAT5
TET2

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.leukres.2010.02.033

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@article{133181a8ce4444b8939f8c8cb269507b,

title = "Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations",

abstract = "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.",

keywords = "ASXL1, JAK2 V617F, MPL W515L, RARS-T, STAT5, TET2",

author = "Hadrian Szpurka and Jankowska, {Anna M.} and Hideki Makishima and Juraj Bodo and Nelli Bejanyan and Hsi, {Eric D.} and Sekeres, {Mikkael A.} and Maciejewski, {Jaroslaw P.}",

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. ",

year = "2010",

month = aug,

doi = "10.1016/j.leukres.2010.02.033",

language = "English (US)",

volume = "34",

pages = "969--973",

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AU - Szpurka, Hadrian

AU - Jankowska, Anna M.

AU - Makishima, Hideki

AU - Bodo, Juraj

AU - Bejanyan, Nelli

AU - Hsi, Eric D.

AU - Sekeres, Mikkael A.

AU - Maciejewski, Jaroslaw P.

N1 - 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.

PY - 2010/8

Y1 - 2010/8

N2 - 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.

AB - 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.

KW - ASXL1

KW - JAK2 V617F

KW - MPL W515L

KW - RARS-T

KW - STAT5

KW - TET2

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

Abstract

Bibliographical note

Keywords

UN SDGs

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