Story of Rukhsar

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

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.

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.

"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

Medgenome offers	Test Code	Test Sample requirements	TAT
Comprehensive leukemia panel -57 gene	MGM499		14 Working Days