Groundbreaking Epithelioid Sarcoma Study Reveals Clues to Treatment Discovery
Beaverton, OR – Children’sCancer Therapy Development Institute (cc-TDI) Biomedical Engineer Samuel Rasmussen led a study with global collaboration published in the journal, Clinical and Translational Medicine. Epithelioid sarcoma (EPS) has remained a largely unmet clinical need in children, adolescents, and young adults despite the advent of EZH2 inhibitor tazemetostat. Rasmussen’s study, Functional Genomic Analysis of Epithelioid Sarcoma Reveals Distinct Proximal and Distal Subtype Biology, brings medicine one step closer to the more clearly identified subtype of distal EPS, afflicting pediatric/AYA patients, vs. proximal, adult-associated EPS in mutation and pathway identification.
cc-TDI EPS’s funding partner Becky Hughes, President of Prayers for Elijah Foundation, expresses the resounding sentiments of childhood cancer families, “While we are so extremely grateful to cc-TDI and the insurmountable time and efforts they are putting towards EPS research, it’s evident there’s so much more to uncover about this unconventional and highly destructive cancer that took the life of not only Elijah at 10 years old, but so many other children… We do not want any other child to have to suffer as Elijah did or hear those terrifying words, ‘there are no treatment options for you.’ We will continue to implore other medical institutions to join in our fight against childhood cancer with emphasis on rare cancers like Epithelioid Sarcoma.”
Beth Norton, Corry’s Mom illustrates the pain clearly. “This disease reaches children and adults of all ages. My son was 29 years old when he was diagnosed. He was married with a 2 year-old son and a 2 month-old daughter. He took every treatment, surgery, homeopathic treatment, and trial drugs to no avail. The impact of this awful cancer on patients and families is relentless and the treatments are brutal and ancient.”
Kim Webb, Connor’s Mom, describes the ongoing challenge of EPS. “EPS is an exceptionally rare and deadly disease with a high recurrence rate. Beyond surgery, there are few options for treatment and even then, the most brutal medications do not stop this beast. The only chance we have is through collaborative research. We need a united front of researchers, clinicians, pharma, families and funding all working together simultaneously. It is the only way and our only hope.”
According to cc-TDI Founder and Scientific Director Dr. Charles Keller, “…the exciting next step for this international consortium, which will include Dr. Sophie Psotel-Vinay at the Institute Gustave-Roussy in France, will be to define the mechanism of FDA-approved tazemetostat and how new drugs can be combined with tazemetostat to improve treatment outcomes.”
Co-authored by cc-TDI Team members, collaborators included Thomas G. P. Grünewald, Felix Sahm and Jia xiang Jin at the German Cancer Consortium in Heidelberg; Hiroaki Goto at the Kanagawa Children’s Medical Center in Yokohama, Japan; Angelo Sidoni at MD Anderson Cancer Center in Houston; Erin Rudzinski at Seattle Children’s Hospital; Khin Thway and Robin L. Jones at The Royal Marsden Hospital in London, UK; Paul H. Huang at the Institute for Cancer Research in London; Alessio Ciulli at the University of Dundee, Scotland; and the talented team of Hollis Wright, Melvin Lathara, Ganapati Srinvasa and Kavya Kannan at Omics Data Automation in Oregon.
This work was also supported by the Sam Day Foundation, direct contributions from EPS families and contributions made from private donors through Consano.org. The manuscript was written in honor of Connor Webb, Cory Norton, Jaya Gupta, Ella Engeström and Elijah Hughes. Other contributors include Dr. William Tap, Robert Maki, Lia Gore, Carrye Cost, Margaret Macy, and Robin Jones for therapeutic agent selection assistance, and Dr. Torsten Nielsen for preliminary conceptual assistance. The laboratory of T.G.P.G. was supported by the SMARCB1 association and Barbara and Wilfried Mohr Foundation.