Characterization of pediatric B- acute lymphoblastic leukemia using chromosomal microarray
Dr. Linda Baughn
Wednesday, August 3, 2016
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Chapters
Introduction
Objectives
Pediatric B-ALL
Pediatric B-ALL: Improvements in survival
Risk stratification in B-ALL: the use of primary cytogenetic subtypes
Traditional practices for characterization of B-ALL
Limitations to G-banding | Limitations to FISH
Further identification of clinically relevant abnormalities still needed
Biology of B-ALL
Genetic components of B-ALL: Block in normal B-cell differentiation
Genetic components of B-ALL: Uncontrolled proliferation of blasts
Chromosomal microarray to fully characterize B-ALL
Advantages of SNP array
Limitations of SNP array
Why analyze B-ALL using SNP array?
How we analyze B-ALL using SNP array?
Example case 1: 7 year old male
Example case 1: Disease specific gene list
Microarray detection of iAMP21
Example case 1: 7 year old male | G-banding
Example case 1 : 1.3 Mb heterozygous deletion at 7p12.2
Example case 1: iAMP21
Examples 2 and 3: Aneuploidy
Example case 2: 12 year old female
Example case 2: 85% clonal fraction
Example case 2: Interpretation
Example case 2: 91% of low hypodiploid ALL with 32-39 chromosomes have TP53 mutations
Example case 3: 21 year old male
Example case 3: 50% clonal fraction
Example case 3: TP53 mutations identified in this patient
Example case 4: 3 year old female
Example case 4: Loss \ Gain
Conclusions
Acknowledgements
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