This is Jason’s story as told to Memorial Sloan Kettering’s “In The News”.
Jason Mascolo at 34 years of age had been living with constant leg pain for years. However, due to his lack of medical benefits, he avoided going to the doctor. When Jason was hired as a repairman for Consolidated Edison he became eligible for health insurance and immediately made a doctor’s appointment.
During the exam, the doctors discovered that Jason had a malignant tumor. Jason was referred to Sloan Kettering (MSK) in New York where the primary tumor was biopsied. It was identified as a rare sarcoma that had metastasized (spread) to other organs. The cancer had invaded his lungs, chest, and abdomen.
The tumor may have been discovered late, but on a positive note, Jason was now at the Sarcoma Center at MSK which is known throughout the world. Two of the largest studies on genetic assessment of sarcoma tumors have been published by researchers at MSK.
These state-of-the-art molecular tests identify personalized treatments for cancers that surpass most chemotherapies and possibly result in fewer adverse events.
About the Treatment
Jason was diagnosed with a subtype named perivascular epithelioid cell neoplasm. His treatment began with chemotherapy that shrunk the tumor in Jason’s leg and facilitated its removal. The other tumors however were not as easily removed. Over the next two years, at least five different forms of chemotherapy were used to remove the tumors but each failed.
Jason’s wife Tricia was expecting their first child in 2017 when, at the same time, Jason’s doctors exhausted all chemotherapy options. Dr. Mrinal Gounder, an oncologist at MSK, found a possible solution while testing Jason’s tumor.
Dr. Gounder suggested that according to molecular testing of his tumor, Jason will no doubt benefit from a type of immunotherapy drug (checkpoint inhibitors) that are effective in reducing tumors with a high tumor mutation burden.
Jason’s cancer treatment consisted of the combination of nivolumab (Opdivo®) and ipilimumab (Yervoy®). Both drugs originated at MSK and were dsigned to treat melanoma. Dr. Sandra D’Angelo, a medical oncologist at MSK, led a later trial that found the aforementioned combination could also treat some patients who had sarcoma.
Jason was one of the first patients to receive the drug combination with the intent to target sarcoma. His insurance company denied coverage. However, Dr. Gounder made an appeal to the original drug company on behalf of Jason. He asked that the company provide Jason with the drugs under the compassionate use program. The program allows access to an investigational medical drug in situations where the patient has a serious disease or a life-threatening condition.
The immunotherapy was a success. About the same time that their baby was born, Jason’s doctor called to say the drugs were working. As of this writing Jason, now age 41 and living in White Plains, New York, is not receiving further treatment and there are no signs of cancer.
Two Studies With Similar Conclusions
Recently, two doctors on the sarcoma team at MSK assessed the way in which genetic analysis of sarcoma tumors could revolutionize personalized medicine.
For the first study, data from over 2,100 patients were analyzed by MSK’s Dr. Benjamin Nacev who conducted a molecular assessment of their tumors through MSK-IMPACT®.
Dr. Gounder led the second study that involved data from 7,400 other patients. In these instances, the tumors were evaluated at hospitals other than MSK using commercial tests.
The study led by Dr. Gounder showed that next-generation sequencing (NGS) of tumor tissue brought about changes in diagnoses of approximately ten percent of sarcoma patients. Dr. Gounder noted that due to sarcoma’s complexity, an accurate diagnosis is more likely to be attained at specialized cancer centers.
The team then used an MSK database called OncoKB™ that matches patients with optimum personalized therapies according to the mutations in their tumors.
Dr. Gounder believes that a third of the patients in the study would benefit from personalized therapies. He also estimated that an additional four percent would benefit from immunotherapy due to a high tumor burden.
Dr. Gounder further explained that sarcoma accounts for about 1% of solid tumors with approximately one hundred subtypes.
Drs. Gounder, Nacev, and colleagues welcome others to use their findings which are available through cBioPortalforCancer Genomics.
Nature Communications published the two MSK papers in their June 15, 2022 edition.
What are your thoughts about becoming a rare disease advocate?
Share your stories, thoughts, and hopes with the Patient Worthy Community
Rose Duesterwald July 28, 2022