Mr. Aswathanarayana, a 64-year-old retired bank official went to a Haematologist and Bone Marrow Transplant (BMT) Specialist, complaining of low haemoglobin levels. His blood cells and bone marrow examination revealed that he had developed Acute Myeloid Leukaemia.
Acute Myeloid Leukaemia, or AML, is a type of blood cancer that starts in the bone marrow. The bone marrow cells don’t mature the way they’re supposed to, and without treatment, AML can be life-threatening. AML accounts for approximately 20% of acute leukaemia in children and 80% of acute leukaemia in adults. It is the second most common leukaemia in children with an annual incidence varying from 0.9 to 1.5 per 100,000 children in our country.
Given the patient’s age, the clinician decided to go for Decitabine injection, instead of the usual chemotherapy. He would have continued to do so until he received the genetic test report on targetable mutations which identified clinically significant genomic alterations in FLT3 and NPM1 genes. Meaning, the changes reported are treatable with certain medications.
Mutations in FLT3 are the most common molecular abnormalities in AML, which makes it an excellent therapeutic target. Several studies have shown that sorafenib(drug) is a strong FLT3 inhibitor, thus Mr. Aswathanarayana was given Sorafenib, post which he is doing well and currently cancer free.
It is interesting to note that the treatment was based on the identification of the gene mutations, which was personalized to Mr. Aswathanarayana. Such treatments are called as personalized medicine or Precision medicine. Identification of specific genetic mutations present within the cancer cells may guide therapy, and sometimes also determine how long that person is likely to survive.
Summary
- Genetic testing helped in identifying clinically relevant mutations
- Identification of FLT3 and NPM1 genes guided in the patient’s treatment regimen
About MedGenome
MedGenome is a leading solution provider of clinical genomics which offers genetic testing across various disease areas like neurology, oncology, cardiology, rare inherited diseases, endocrinology, hematology, pre natal, population genomics etc. MedGenome’s diagnostics tests include many breakthroughs for genetic diagnostics including liquid biopsy, non-invasive prenatal screening test (NIPT), carrier screening, and whole exome sequencing for cost-effective identification of rare mutations at its CAP certified lab in Bangalore.
| Medgenome offers | Sample requirements | Required forms | TAT |
| Comprehensive leukemia panel-57 genes |  | Regular 21 days | |
 | Test requisition form along with relevant clinical information including pedigree. consanguinity. age of onset, clinical presentation and symptoms | ||
| AML risk stratification gene panel |  | Regular 21 days |
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