Stubborn Cancer – Tough Fight
Rare diseases, as the name suggests, are hard to come by and hence are difficult to treat. Doctors are also sometimes intrigued by some cases when a patient presents symptoms of a rare disease. For health problems that are serious like diabetes, but are widespread, there is a wealth of information about variations in symptoms, different uses of known therapies and the availability of many modalities of treatments. On the other hand, for some rare diseases, this kind of information is sometimes just not available.
So, how do doctors decide upon therapy for rare diseases? At Strand Life Sciences, we have had an opportunity to work on one such case. A 37-year-old patient from Delhi, Siva (name changed to protect patient privacy), visited a doctor with complaints of pain in the stomach. An abdominal ultrasound scan showed that there was fluid accumulated in his stomach. A CT scan was then taken and doctors found that there were several spots on his lungs where abnormal growth was seen. A biopsy (sample of the abnormal tissue) was studied and doctors found that the patient had a rare form of lung cancer- called as a lung mesothelioma. About 7 people in a million are diagnosed with lung mesothelioma in Japan and 40 mesothelioma cases in a million are diagnosed in Australia, according to statistics published in 2005. These numbers give us some idea of how rare this cancer can be!!
In Siva’s case, the cancer had started forming in the lungs but had spread to the abdomen area, to the tissues around the intestine. Since the cancer had started spreading to other tissues, surgery to remove it from the lungs would not have been very effective. So, chemotherapy was advised to the patient. Siva underwent chemotherapy with pemetrexed and cisplatin and then with pemetrexed and carboplatin in the first round of therapy. These drugs can stop the division of cancer cells and can help to reduce the size of tumors. Siva was OK for some time but after 1.5 years, the cancer was detected again.
Siva was treated with other chemotherapy drugs like gemcitabine and vinorelbine, in addition to the ones mentioned above. In each round of treatment, it seemed like the tumor has gone away, initially, but some cancer cells would persist and start growing again. In the case of vinorelbine, doctors had to withdraw the drug because Siva could not bear the side effects.
It looked like Siva was running out of all options. His oncologist then advised him to get the tumor tested at the Strand Center for Genomics and Personalized medicine. Scientists at Strand Center found three key genes that had mutated, in this case: EGFR, TP53 and PTEN. These discoveries created avenues for further treatment. EGFR is a gene that is mutated in many cancers. So, there are drugs that can target this particular mutation and help to control cancers that have this gene alteration. So, taking a cue from the treatment of other types of cancer, Siva’s oncologist prescribed Erlotinib. As before, Siva’s cancer responded to the treatment.
In a tragic twist of fate, the cancer was detected again!! This time, Siva’s doctor was able to prescribe Everolimus, another drug that can target the PTEN gene mutation. Siva is now a cancer survivor.
In the normal course, 40% of mesothelioma patients survive for about one year and only 10-15% patients can survive this cancer for five years. Considering these facts, Siva’s ability to fight the cancer and survive for 3 years was definitely enhanced by the DNA-based diagnosis of his cancer.
- Geltner, C. et al. Management of malignant pleural mesothelioma – part 1: epidemiology, diagnosis, and staging : Consensus of the Austrian Mesothelioma Interest Group (AMIG). Wien. Klin. Wochenschr. 128, 611–7 (2016).
- Friedberg, J. S. et al. Extended Pleurectomy-Decortication–Based Treatment for Advanced Stage Epithelial Mesothelioma Yielding a Median Survival of Nearly Three Years. Ann. Thorac. Surg. (2016). doi:10.1016/j.athoracsur.2016.08.071