Implementation of Automated Comprehensive NGS Panel in a Community Cancer Center
Robyn Sussman, PhD
Monday, July 27, 2020
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Chapters
Introduction
Acute Myeloid Leukemia
Genetic Testing in the AML New Diagnosis Pathway
Precision and Computational Diagnostics at Penn
Evolution of the CPD Hematological Malignancies Panel
AML Classification and Risk Stratification
Stratifying AML Cases into MRC and ELN Risk Groups
Including NPM1 and FLT3 Status has Prognostic Value
Detecting FLT3 ITDs
FLT3 ITD VAF Quantification Can Change Prognostic Group
Overlapping Cytogenetics Risk Stratification with Mutations from NGS: Study Cohort
Most Cases in the Cohort Had Abnormalities in Both Karyotype and NGS
Frequency of Mutations in Genes by Risk Groups
Most Common NGS Results in Favorable AML
Differences Between MRC and ELN Favorable AMLs
Most Common NGS Results in Intermediate AML
Shifts Between MRC Intermediate and ELN Adverse AML
Most Common NGS Results in Adverse AML
Shift of AMLs Between MRC and ELN
AML With t(15;17) Has a Favorable Prognosis
Functional Categorization of Variants
Functional Categorization of Mutations
Conclusions from Prognostic Grouping of New AMLs
Grouping AMLs by the Presence of Chromosomal Abnormalities
AMLs With Translocations Have Common AML Mutations
AMLs With Trisomy Have Common AML Mutations
AMLs with Deletions have TP53 mutations
AMLs with Monosomy have TP53 mutations
Significant Overlap Between MK, Loss of 17p and Mutant TP53
Summary of AML by Chromosomal Abnormality
Overall Considerations for Study Design
Future Directions
Acknowledgements
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