Kanagawa Children's Medical Center

We are excited to announce Samuel's publication, Functional Genomic Analysis of Epithelioid Sarcoma Reveals Distinct Proximal and Distal Subtype Biology is now published in the journal, Clinical and Translational Medicine. You can read the article here: https://doi.org/10.1002/ctm2.961

In this study, an international group of collaborators defined the genetic landscape of the largest group of epithelioid sarcoma (EPS) patients thus far. A difference was seen between the mutation types and genes turned on between the 2 subtypes of EPS.

Funding partner Becky Hughes, President of Prayers for Elijah, 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 EPS.”

Beth Barnes 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."

Co-authors are cc-TDI Team members and alumni Lissett, Andy, Ken, and Noah. International 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; Khin Thway and Robin L. Jones at The Royal Marsden Hospital in London, UK; Paul H. Huang at the The Institute of Cancer Research in London; Alessio Ciulli at the University of Dundee, Scotland; and the talented team of Hollis Wright, Melvin Lathara, Ganapati Srinivasa and Kavya Kannan at Omics Data Automation in Oregon.

This work was supported by the Sam Day Foundation, direct contributions from EPS families and contributions made from private donors through Consano.org. This manuscript was written in honor of Connor Webb, Cory Norton, Jaya Gupta, Ella Engeström and Elijah Hughes. We are grateful to Drs. William Tap, Robert Maki, Lia Gore, Carrye Cost, Margaret Macy and Robin Jones for assistance with therapeutic agent selection. We thank Dr. Torsten Nielsen for early discussions of this project. The laboratory of T.G.P.G. was supported by the SMARCB1 association and the Barbara and Wilfried Mohr Foundation.

The exciting next step for this international consortium, which will include Dr Sophie Postel-Vinay at Hopital Institute Gustave Roussy in France, will be to define the mechanism of action of FDA-approved tazemetostat and how new drugs can be combined with tazemetostat to improve treatment outcomes.