What is Tumor Profiling and How Can it Help Me?

  • Tumor profiling has become the mainstay of personalized oncology.

    It is already quite evident that key biological principles are shared between the tumors despite difference in their site and tissue of origin. Activated oncogene HER2 is a great example: once mutated or multiplied, this cancer gene becomes an engine to drive cancer cell growth and metastatic spread.It is of paramount importance to identify such “driver mutations” in cancer because blocking them with very precise medications exerts dramatic anti-cancer  effects and, ultimately, helps patients. We have recently reported on a patient whose tumor has a mutation in a cancer gene KIT for which there is a perfect drug. The problem was, however, that the patient disease had the “wrong” ICD9 code which is the code that insurance companies use to match the drug to the diagnosis. 

    Igor Asturov, MD
    Igor Asturov, MD

    Patients with incurable cancers are denied access to even the FDA-approved drugs, drugs that are shown to be perfect safe. Even worse, a Darwinian advantage of the fittest, or more accurately the best connected, seems to govern who receives these drugs, which makes the situation all the more unacceptable. In an era when oncology is becoming “clinical cancer biology” (to paraphrase George Sledge, M.D.), many cancer cases are not amenable to standard randomized clinical trials because they are so rare, even unique. And yet many of these cases are treatable.

    Going back to my patient, this now 50-year man just celebrated a year and a half of life on Gleevec, the new molecularly targeted drug that transformed cancer care. His insurance company, United HealthCare, refused to pay for his treatments or to allow him to participate in any clinical trial. After several months of unsuccessful appeals to United HealthCare, his cancer rapidly progressed with excruciating pain. And then, help came unexpectedly from the family of a deceased patient: An unopened bottle of Gleevec. Within days of taking the standard dose of the pill, Barry’s pain was lessening and the tumor rapidly shrinking. With these facts in hand, we were ultimately able to convince the drug manufacturer to provide the drug for free. Now, Barry’s case report is published in the Journal of National Comprehensive Cancer Network and will help other patients with rare genetic alterations in their tumors. Many times, I ask myself, “What if … ?”: What if Barry was 20 years older? What if he had not agreed to a second biopsy, which revealed the mutation? What if the company ultimately followed their procedures regulating compassionate access to their drugs? What if … ?

    Related article: Washington Post – March 9, 2015 Tumor Profiling