Molecular testing is also known by many other names like genetic testing, somatic mutation testing, germline mutation profiling, and chromosomal analysis. This test is a technique by which the specific genetic mutation which has led to cancer formation is identified.
Why is molecular testing done?
Molecular testing forms an integral part of investigations during the evaluation for various haematological malignancies like leukaemia, lymphoma, and myeloma. In some instances, it forms an essential diagnostic criterion. Apart from being a part of the cancer diagnostic criteria, molecular testing also helps determine the prognosis in any patient with blood cancers. The most important reason for doing molecular testing is to identify a particular genetic characteristic and target the same with the use of targeted therapies and immunotherapy. Essentially molecular testing helps in personalized cancer therapy.
In what blood cancers are molecular or genetic tests useful?
Here is a list of all blood cancers and the relevant molecular tests
Chronic Myeloid Leukemia
B cell - Non-Hodgkins Lymphoma
Acute Lymphoblastic Leukemia
Acute Myeloid Leukemia
T cell – Non-Hodgkins Lymphoma
Acute Pro-myelocytic Leukemia
What sample is needed for molecular testing?
Depending on the type of cancer, molecular tests are done on the tissue biopsy sample or on the bone marrow aspirate sample, or the blood sample.
What are the techniques used in molecular testing?
Molecular testing can be done using Four methods.
Immuno-Histochemistry (usually done on the tissue sample).
Fluorescent In-situ Hybridization - FISH (can be done on tissue or blood sample).
Polymerase chain reaction – PCR (done on the blood or bone marrow sample).
Next-generation sequencing – NGS (done on the tissue or blood or bone marrow sample).
How do these tests influence treatment decisions?
Different blood cancers have different genetic characteristics. Upon identifying a molecular signature in particular blood cancer, the treating oncologist will determine the availability and the effectiveness of the targeted therapy agent and discuss the same with you. This precision oncology approach helps diagnose and improve the effectiveness of the treatment and may help reduce side effects, ultimately leading to better outcomes.
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