Molecular Profiling and Targeted Therapies
No two tumours are exactly the same. The genetic characteristics of a cancer will vary from one patient to the next, which means that even patients with the same type of cancer may respond differently to the same treatment.
Molecular profiling is the classification of samples (eg, tumour tissue) based on gene expression. Biopsy samples are sent to a laboratory where they undergo tests to analyse tumour DNA and proteins – the results of these tests provide information about the molecular profile of the tumour and can be used to help decide which treatments the cancer is likely to respond to. Molecular profiling may allow patients to benefit from more ‘personalised’ treatments, or ‘precision’ medicine.
Traditionally, cancers have been diagnosed according to their location in the body, eg, lung cancer, breast cancer, bowel cancer, etc. As the understanding of what causes cancer is evolving, some cancers are now beginning to be categorised based on the genomic makeup of the tumour, regardless of location.
Clinicians can use information from molecular profiling to help identify whether a targeted therapy is a suitable option for a patient. Where a mutation is found, treating this with a therapy specific to that mutation has been shown to increase response to treatment. In future, targeted therapies may provide a new avenue for treating cancer regardless of where the cancer is located in the body.
Certain gene mutations, including IDH1 and FGFR2, are each found in 10–15% of intrahepatic cholangiocarcinomas (CCAs), and treatments that target these are being trialled.
Currently molecular profiling is available to only very few CCA patients in the UK, via clinical trials or privately. Having tests for the most commonly occurring fusions/mutations included in the National Genomic Test Directory for Cancer, and so available to eligible CCA patients under the NHS, will hopefully be happening soon.
For available clinical trials, including those using molecular profiling and targeted therapies, see: https://ammf.org.uk/clinical-trials/
For the National Genomic Test Directory for Cancer, see: https://www.england.nhs.uk/publication/national-genomic-test-directories/
To see Professor Juan Valle’s slides, “Building on our current treatments: Is precision medicine the future for cholangiocarcinoma?”presented at AMMF’s Patient and Carer Information Day, October, 2020, click here
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