Page 36 - IMR Annual Report 2022: Institute for Medical Research

IMR Annual
20
Report2022
INSTITUTE FOR MEDICAL RESEARCH

Laboratory Diagnostics/ Services

Haemato-oncology Laboratory Tests

Leukaemia Translocation Study

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.

Acute Myeloid Leukaemia Mutation Study

Acute Myeloid Leukaemia (AML) Mutation Study consists of 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.

BCR-ABL1 Kinase Domain Mutation Analysis

Tyrosine kinase inhibitors (TKI) is 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. This test identifies mutation in patients receiving TKI
therapy, who do not respond well to treatment. Identification of TKI resistance
due to mutation effects is important as such patients require tailoring of their
medication for their condition, such as increasing imatinib dosage or changing to
a different (second-generation) TKI.

Cancer Research Centre (CaRC) Chimerism Study

Chimerism analysis is used to monitor the success of engraftment or to
detect early graft failure, rejection and relapse after haematopoietic stem cell
transplant. This test evaluates the mixture of donor and recipient DNA in the
recipient’s blood or bone marrow using real-time quantitative PCR for post-
transplant monitoring.