Research Review: Evaluation of cytokines and hormones as biomarkers for EHE

Research Review

The Instituto Nazionale dei Tumori (INT) based in Milan, and the Institute of Cancer Research (ICR) / Royal Marsden Hospital (RMH) based in London, are engaged in a significant collaborative EHE research project funded jointly by the EHE Rare Cancer Charity UK and The EHE Foundation (US). Key researchers in the project, including Dr Nadia Zaffaroni (PI) and Dr Sandro Pasquali from INT, and Dr Paul Huang (PI) from ICR/RMH, met with members of the EHE Group to review progress on the project and discuss future perspectives.  

The EHE Group were delighted to see the good progress being made on core elements of the project. Underpinning the research is the ongoing enrolment of a prospective observational study, including tissue and blood sample collection and recording of disease progress and treatments over time. At the time of the review  a total of 40 patients had been enrolled in this project, 35 in Milan and 5 in London.  

These patient samples and detailed clinical observations are being used to support the research programme, including the identification of new biomarkers which can help with patient management, providing a tool to help with more accurate prognosis, identify possible therapeutic targets, and assessment of responses to different drugs. 

In summary, progress highlights from this research are:  

  • The study has enrolled 40 patients as of September (35 at INT, 5 at RM) 
  • A small number of cytokines involved with inflammation have been identified that are found to be differentially expressed in EHE patients. Currently, the research continues to evaluate a potential biomarker for EHE, Growth and Differentiation Factor-15 (GDF-15), which plays multiple roles in a wide variety of cellular processes. 
  • The team looked at the concentration of circulating GDF-15 in a retrospective series of 23 EHE patients and observed a statistically significant association of GDF-15 levels with EHE aggressiveness. This result was confirmed in a second cohort of 21 EHE patients prospectively collected within the currently-ongoing observational study.  
  • The team are also now analysing miRNAs as possible biomarkers, with early results looking positive. 
  • Research looking at hormones has also started. 
  • The team also hope to start research into tissue-based biomarkers.