For a 70-year-old woman from Kota in Rajasthan, treatment for advanced lung cancer took a different turn after her doctors decided to carry out genomic testing. The test picked up a clinically important genetic change called a MET exon 14 skipping mutation. Also known as 'driver mutation', is associated with tumour growth and disease progression. It becomes particularly challenging to manage cancers driven by this mutation as they may not always respond well to conventional treatments alone. The oncologist was able to use this mutation to better understand the behaviour of her tumour, explain its progression and tailor a more personalised treatment approach by considering therapies that specifically target the altered MET pathway.
The woman had first visited a doctor when her persistent coughing was one day accompanied by blood. Medical reports confirmed that she had Stage III lung cancer, after which treatment was started immediately. However, despite receiving the initial line of treatment which involved chemotherapy, the disease progressed to Stage IV.
That is when the family decided to get a second opinion. The consulting oncologist decided to examine the cancer more closely and look for molecular alterations that could be influencing the course of the disease.
The patient's sample had been sent to labs for a comprehensive genomic profiling of the tumour cells. The report showed MET exon 14 skipping mutation. This is a genetic alteration known to occur in a subset of patients with lung cancer, and is actionable, meaning a targeted treatment option is available to treat it.
This finding enabled the oncologist to adopt a targeted approach resulting in the patient showing positive response and subsequent recovery. She was able to fight the disease and was able to return to her normal daily activities over a period of time.
Speaking about the case, consulting oncologist on the case Dr. Bharat Bhosale, Medical Oncologist and Founder, BB Precision Oncocare Centre, said, “Every cancer behaves differently, and understanding the molecular characteristics of a tumour can that can complement clinical assessment and help guide treatment decisions. In this patient's case, identifying the MET exon 14 skipping mutation offered important insights that helped inform treatment decisions. Such genomic findings are increasingly enabling a more personalised approach to cancer care.”
Lung cancer continues to be one of the leading causes of cancer-related deaths worldwide. Many patients are diagnosed only after the disease has reached an advanced stage. Conventional diagnostic methods remain an important part of the diagnosis, but genetic testing is now increasingly being used to identify specific genetic alterations that may guide treatment planning and disease management for better cancer management.
Dr. Prashanth Bagali, Head of Scientific Affairs – Oncology, MedGenome Labs Ltd, said, “Cancer care is becoming increasingly personalized, and genomics is playing an important role in helping clinicians better understand the unique biology of an individual's cancer and make more informed treatment decisions. As awareness and access to genomic testing continue to grow, molecular insights are becoming an increasingly important component of personalised cancer care.”
Experts say advances in genomic testing are helping doctors identify actionable mutations that may not be detected through routine diagnostic evaluation alone. These insights are supporting more tailored treatment strategies for patients across different types of cancer, enabling more accurate and accessible cancer care.