Next Generation Sequencing (NGS) based multigene panel testing in clinical decision making and management of an AML patient

leukaemia treatment-genetic testing
41-year-old Rukhsar (name changed) was diagnosed of acute myeloid leukemia (AML) harboring chromosome 3 deletion and negative for PML-RARA gene fusion. Considering her performance status and aggressive nature of the disease, Dr Joydeep Chakraborty, the treating clinician from AMRI Hospital, Kolkata advised her to undergo allogenic stem-cell transplantation (transplantation of blood forming stem-cells from a donor).
Name : Rukhsar
Age : 41 Years
Diagnosis : Acute Myeloid Leukemia (AML)
Clinician : Dr Joydeep Chakraborty
Hospital : AMRI Hospital, Kolkata
* Name changed to protect patient data

Recommendation from the doctor

Dr Chakraborty decided to do a genetic test on the patient to understand the prevailing mutations when Rukhsar was diagnosed with AML. This can act as a baseline to understand the effect of induction chemotherapy, before bone marrow transplant (Pre-BMT) and post bone marrow transplant (Post-BMT). The sample (Bone Marrow Aspirate) was sent to MedGenome Labs, Bangalore for Comprehensive Leukemia 57 Gene Panel for sequencing of leukemia associated genes (KIT, DNMT3A, NPM1, FLT3, IDH1, IDH2, CEBPA and RUNX1 being the commonly mutated in AML patients), with 30+ genes directly associated with prognosis and risk stratification of acute myeloid leukemia: that includes chromatin regulators, epigenetic modifiers, spliceosome complex involving splicing factors, oncogenes (Receptor Tyrosine Kinase/TKs), Tumor suppressor genes and cohesion complexes.

Test Result

Gene Mutation Allele Burden
IDH2 p.Arg172Lys 49.8%
CEBPA p.Ala271ArgfsTer50 18.6%
In order to understand the residual mutation burden at different time points, a bone marrow aspirate sample of this patient was sent to MedGenome labs post induction chemotherapy, post bone marrow transplant at periodic intervals of 3 months and 7 months respectively. As expected, the respective baseline mutations were not detected. In simple terms the burden of mutations in IDH2 and CEBPA genes began to drop down right after the induction chemotherapy to 0% and remained at undetectable levels post bone marrow transplant which was in concordance with clinical presentation.

Follow up testing

Gene Time Gap Presence of Mutation
Pre BMT/ Post Induction Chemotherapy - Not Found
Post BMT After 3 months Not Found
Post BMT After 10 months Not Found
"Considering the periodic assessment for molecular signature of a leukemic patient, this case study demonstrates the clinical utility of multigene NGS panels in different types of leukemia and how it helps the medical oncologists in clinical decision making and management of leukemia patients, thus improving the survival and quality of life in these patients"
By Dr Joydeep Chakraborty
Sample detail table