In Sarcoma, Does The Absence Of Mutations Mean There Is No Cancer?
Updated: Oct 25
I was recently approached by the father of a young patient with recurrent sarcoma.
After several surgeries and multiple courses of chemotherapy, the disease progressed.
One can only imagine the pain and hardship that the father of a child afflicted with this serious disease must confront but one can certainly imagine how tirelessly a father would fight to save his child's life.
This was certainly true for this father who reached out to me after he had obtained opinions from many different cancer centers.
In our discussion I inquired what additional analyses had been conducted to date upon the tumor tissue and he was very forthcoming.
Results from Multiple Genomic Tests
Since the original diagnosis over one year ago, not one, or two, but three separate genomic (DNA) analyses had been conducted upon the patient’s tumor.
The final results from these 3 separate studies are quoted verbatim below:
1) “Negative result. No pathogenic sequence variants or deletions/duplications identified”
2) “Negative with no mutations detected in any genes analyzed”
3) “No reportable genomic alterations detected”
For a public, bathed in a daily drumbeat of news touting dramatic breakthroughs in genomic research, it may come as a surprise that this highly aggressive, recurrent cancer has absolutely no abnormal genomic fingerprint whatsoever.
The Lofty Promises of Genetic Testing
Have we not been told that every cancer is little more than a genetic abnormality?
Have we not been told that our next-generation sequencing (NGS) will identify every feature of every cancer in the near future?
Have we not been told that in this new genomic era it is "targeted" agents that are selected based on gene profiles through programs like the MATCH-protocol that will save the day?
The answer to all these inquiries is a resounding yes!
Every major institution, university, and all of the National Cancer Institute-designated centers of excellence have provided us with an uninterrupted narrative that cancer is a genetic disorder.
An Uncomfortable Truth
But here we are confronted with an irrefutable (and hardly unique) example of cancer as a biological phenomenon with life-threatening behavior with absolutely no change in its DNA.
There is no question but that this child has cancer. It is just that cancer is not a genetic disease.
Genomic Testing Losing its Allure
As the Genomic Emperor parades in his lovely new clothes, there is a growing recognition among cancer patients, clinicians, funding entities, governmental agencies, foundations and scientific trainees that we have been spoon-fed a one-dimensional view of cancer.
This particular view of cancer which is rapidly losing its allure for hard-working scientists, clinical physicians, and patients who now recognize that the breakthroughs reported on the cover of TIME are few and far between, applicable to a distinct minority of patients and incapable of assisting the vast majority of people in need of actionable information.
The Importance of Functional Analysis Being Rediscovered
The low rumble of interest in cellular biology, systems biology, and phenotypic (functional) analysis is becoming a roar as investigators at Cornell, University of Washington, and Dana-Farber "re-discover" what our team has known for years, that cancer is a biological phenomenon characterized, not by its genotype (genetics), but by its phenotype (how it functions).
And that cancer must be studied at the cellular (phenotypic) level if we are ever to unravel its numerous mysteries. No gene test can do that.
In scientific terminology, it is your phenotype that defines you and it is your phenotype that we study every day in our laboratory using the ex-vivo analysis of programmed cell death (EVA-PCD).
Our EVA-PCD, phenotypic platform, trumps genotypic studies every time and many forward-thinking institutions around the world are beginning to catch on.
As always, I appreciate your thoughts and comments.
Dr. Robert Nagourney, has been internationally recognized as a pioneer in cancer research and personalized cancer treatment for over 20 years. He is a TEDX SPEAKER, author of the book OUTLIVING CANCER, a practicing oncologist and triple board certified in Internal Medicine, Medical Oncology and Hematology helping cancer patients from around the world at his Nagourney Cancer Institute in Long Beach, California. For more info go to NAGOURNEYCANCERINSTITUTE.COM