Blood cancer, or leukemias, are complicated because of the large number of ‘driver’ genetic mutations seen in the disease. These mutations affect the disease in terms of severity, survival, and risk of relapse. Apart from detecting the disease and determining its course, identifying the mutation in the patient is crucial to also provide targeted treatment protocols.
“When a patient is accurately stratified, giving him/her targeted treatment can vastly improve success rates. For the first time in India, Swagene is launching such a diagnostic panel that can help many children, who are commonly affected by leukemia”, explained Dr Vani, Swagene’s co-founder.
The mutations or biomarkers can be either favourable (good) or poor (bad) depending on how they affect the cancer. These bad markers, such as IKAROS or IKZF1 mutations, are important in identifying patients at risk of treatment failure and giving them stronger or modified therapy to prevent relapse. A lot of scientific evidence show that tailoring the treatment to suit these patients using currently available drugs is greatly beneficial in improving survival.
Dr Vani further said, “In this case, there is also a silver lining. There is a good marker (ERG mutation), that is a hero because it has the power to overcome the villain IKZF1. If the hero mutation is present even in the presence of the other the patient will fare a lot better.” So patients that carry both are still classified under favourable prognosis.
This is particularly helpful in deciding which patients may need bone marrow transplantation, the mainstay of leukemia therapy. This is very stressful for the patient because not only does identifying a matching donor take a long time, but it is also too expensive even for the insured classes.
Swagene is the first and only lab in India that offers IKAROS (IKZF1) and ERG deletion tests for leukemia patients. Being sub-microscopic mutations, these can be detected only by molecular diagnosis and not by conventional methods. The lab being a specialized molecular diagnostic centre founded by a scientist and a doctor, is also able to quickly report test results with detailed interpretation. It is expected that these two tests, which can also be ordered as a panel, will vastly improve the oncologist’s and hematologist’s armamentarium in fighting cancer successfully. Situated in Chennai, the lab accepts samples from anywhere in India and can be reached over phone at 044 4201 4700 or their website www.swagene.com
The medical science behind this story
- Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia
- Deletion of IKZF1 and Prognosis in Acute Lymphoblastic Leukemia
- ERG deletion is associated with CD2 and attenuates the negative impact of IKZF1 deletion in childhood acute lymphoblastic leukemia
- An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions