Genome Wide SNP Array-based Approach to Detect Micro-cytogenetic Lesions and KIT Mutation to Improve Treatment Outcomes in Patients With Core-binding Factor Positive Acute Myeloid Leukemia

Sponsor

Samsung Medical Center (Other)

Overall Status

Unknown status

CT.gov ID

NCT01066286

Collaborator

(none)

100

Enrollment

Location

Study Details

Study Description

Brief Summary

Core binding factor (CBF) positive acute myeloid leukemia (AML) consist of 15% of patients in overall AML, expected to harbor a favorable prognosis. However, around a half of cases relapses. Accordingly, more sophisticated classification in CBF positive AMLs is essential to achieve further improvement in the treatment outcome. The current study is designed to evaluate CBF positive AML patients with genome-wide SNP array and KIT mutation study in CBF positive AML patients diagnosed at the Samsung Medical Center and Hwasun Chonnam National University Hospital, Korea between 1994 and 2008.

Construction of the CBF positive AML patient cohort: clinical database establishment (including treatment outcomes and prognosis) and extraction/storage of tumor cell DNAs from marrow samples, then processing of Affymetrix SNP array 6.0.
Construction of prognostic predictive model using pharmacogenomics with the results of genotypes and copy number variations (CNVs).
Detection of hidden microscopic cytogenetic lesions with SNP array technique, and correlation with clinical outcomes in CBF positive AML.
Detection of KIT, FLT3/ITD, and NPM1 gene mutation and its correlation with clinical outcomes in CBF positive AML.

The current study attempts to analyze genetic data of core binding factor (CBF) positive acute myeloid leukemia (AML) using genome wide SNP array technique with tumor DNAs collected at the time of diagnosis.

To detect microcytogenetic lesions and will analyze its prognostic significance
To analyze genome-wide genotypes and copy number variations (CNVs) using pharmacogenetic approach and will construct a prognostic predictive model
To detect KIT, FLT3/ITD and NPM1 mutation and evaluate its prognostic significance. The present study will establish individualized therapy for CBF positive AML, will provide a basis for molecular marker guided clinical trial in CBF positive AML.

Condition or Disease	Intervention/Treatment	Phase
Myeloid Leukemia

Study Design

Study Type:

Observational

Anticipated Enrollment :

100 participants

Observational Model:

Case-Only

Time Perspective:

Retrospective

Official Title:

Genome Wide SNP Array-based Approach to Detect Micro-cytogenetic Lesions and KIT Mutation to Improve Treatment Outcomes in Patients With Core-binding Factor Positive Acute Myeloid Leukemia

Study Start Date :

Feb 1, 2010

Arms and Interventions

Arm	Intervention/Treatment
core binding factor positive core binding factor positive acute myeloid leukemia

Outcome Measures

Primary Outcome Measures

response rate [within 1 month after enrollment]

Secondary Outcome Measures

overall survival and progression-free survival [within 1 month after enrollment]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

patients with core binding factor positive acute myeloid leukemia
18 years or older
patients were treated with standard chemotherapy
patients with available medical record and stored bone marrow specimen at time of diagnosis