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.

What is precision medicine?
What is precision medicine?
(Image from Professor J Valle’s presentation to AMMF)

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.

Targeted therapies
Targeted Therapies
(Image from Professor J Valle’s presentation to AMMF)

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.

Update 22 July 2021: NICE has now approved pemigatinib (Pemazyre®) for those with cholangiocarcinoma who have an FGFR2 fusion.  Pemigatinib is the first ever targeted therapy approved for CCA.  This approval will not only give those eligible patients in England and Wales access to an alternative to chemotherapy, but importantly this new NICE guidance now means molecular profiling will be mandated as standard of care, and so opens the door for all those diagnosed with cholangiocarcinoma to have molecular testing carried out.  

To see the short animated film, ““Cholangiocarcinoma and the importance of molecular testing”, presented for the first time at AMMF’s 2021 conference, click here

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

Shown at AMMF’s conference 2021 for the first time, the new animated film,
“Cholangiocarcinoma and the importance of molecular testing”

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