Page 31 - IMR ANNUAL REPORT 2021: INSTITUTE FOR MEDICAL RESEARCH

18 IMR ANNUAL REPORT 2021

Laboratory diagnostics/services

Haemato-oncology Laboratory Tests

Leukaemia Translocation Study
CANCER RESEARCH CENTRE (CaRC) Leukaemia Translocation Study is performed for detection of leukaemia-

associated fusion gene transcripts in total RNA from bone marrow or whole
blood samples. It is a qualitative test for the simultaneous detection of 30
characteristic fusion genes of acute leukaemia using a real-time multiplex RT-
qPCR based assay. Identification of gene fusion translocation in leukaemia
is important for risk assessment, prognostication and treatment decisions.

BCR-ABL1 Kinase Domain Mutation Analysis

Acute Myeloid Leukaemia (AML) Mutation Study consists of the identification
of several prognostically important molecular markers, including FLT3, NPM1,
c-KIT and CEBPA. Gene alterations, along with chromosomal translocations
and inversions, carry prognostic importance in AML. Identification of AML
mutation status is important for risk assessment and prognostication, as
well as molecularly-based targeted therapy for treatment decisions through
precision medicine.

Acute Myeloid Leukaemia Mutation Study

Tyrosine kinase inhibitors (TKI) are used in the treatment of Chronic
Myeloid Leukaemia and Philadelphia chromosome (Ph) positive B-cell
Acute Lymphoblastic Leukaemia in combination with chemotherapy.
However, a significant subset of patients develops functional resistance
to TKIs associated with mutations in the BCR-ABL1 kinase domain (KD).
This test identifies mutation in those patients receiving TKI therapy, who
do not achieve an optimal response and are apparently failing treatment.
Identification of TKI resistance is important as the effect of some mutations
can be overcome by increasing imatinib dosage, whereas others require
switching to either a different (second-generation) TKI or alternative therapy.