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USEFULNESS OF MUTATIONAL ANALYSIS FOR DIAGNOSIS OF IDIOPATHIC CYTOPENIA OF UNDETERMINED SIGNIFICANCE AND MYELODYSPLASTIC SYNDROME
Author(s): ,
Dong Soon Lee
Affiliations:
Dept of Laboratory Medicine,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Byungjin Hwang
Affiliations:
Department of Chemistry, Yonsei University College of Natural Science,Seoul,Korea, Republic Of
,
Kyongok Im
Affiliations:
Dept of Laboratory Medicine,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Si Nae Park
Affiliations:
3Cancer Research Institute,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Duhee Bang
Affiliations:
Department of Chemistry,Yonsei University College of Natural Science,Seoul,Korea, Republic Of
,
Seon Young kim
Affiliations:
Dept of Laboratory Medicine,Seoul National University College of Medicine,Seoul,Korea, Republic Of
Jung Ah Kim
Affiliations:
Dept of Laboratory Medicine,Seoul National University College of Medicine,Seoul,Korea, Republic Of
(Abstract release date: 05/19/16) EHA Library. Lee D. 06/09/16; 134811; PB1911
Prof. Dong Soon Lee
Prof. Dong Soon Lee
Contributions
Abstract
Abstract: PB1911

Type: Publication Only

Background
Myelodysplastic syndrome (MDS) is a heterogeneous group of myeloid neoplasms characterized by cytopenias that are associated with impaired hematopoietic differentiation, and have a risk of progression to acute myeloid leukemia (AML). 

Aims
Aim of this study is to identify the frequency of clonality revealed by next generation targeted  sequencing in patients with idiopathic cytopenia of unknown significance. 

Methods
A total of 36 patients with idiopathic cytopenia of undetermined significance (ICUS), were enrolled in this study. Targeted sequencing of 87 selected genes was performed. 

Results
The putative mutations were analyzed compared to a normal reference control population. 25. /36 (69.4%) ICUS patients harbored at least one mutation. 

Conclusion
The molecular profiling of target genes can improve diagnostic accuracy for ICUS and MDS and can assist better subclassification of prognostic groups of MDS patients.



Session topic: E-poster

Keyword(s): Myelodysplasia
Abstract: PB1911

Type: Publication Only

Background
Myelodysplastic syndrome (MDS) is a heterogeneous group of myeloid neoplasms characterized by cytopenias that are associated with impaired hematopoietic differentiation, and have a risk of progression to acute myeloid leukemia (AML). 

Aims
Aim of this study is to identify the frequency of clonality revealed by next generation targeted  sequencing in patients with idiopathic cytopenia of unknown significance. 

Methods
A total of 36 patients with idiopathic cytopenia of undetermined significance (ICUS), were enrolled in this study. Targeted sequencing of 87 selected genes was performed. 

Results
The putative mutations were analyzed compared to a normal reference control population. 25. /36 (69.4%) ICUS patients harbored at least one mutation. 

Conclusion
The molecular profiling of target genes can improve diagnostic accuracy for ICUS and MDS and can assist better subclassification of prognostic groups of MDS patients.



Session topic: E-poster

Keyword(s): Myelodysplasia

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