CERN Project II: Tumor Profiling and Pathology

— Categories: Press Release     Posted on May 30, 2013

Dr. Kenneth Aldape, Tumor Profiling and Pathology Project Leader and Dr. Terri Armstrong, co-leader of the CERN Tissue Correlative Study, share what they have accomplished thus far, as well as their hopes for the future of Project II.

Mission

To develop a clinically-annotated tumor tissue repository of ependymoma in order to identify molecular markers that will help to better predict treatment response, and improve patient outcome.

Goals

  • Improve the care of patients while improving diagnostic classification of their tumor leading to personalized treatment options.
  • To better understand what factors impact response to treatment, progression and survival in patients diagnosed with an ependymoma.
  • Identify and understand the molecular subtypes of ependymoma.

Overview

Given the relative rarity of ependymoma diagnosis in both children and adults, understanding of the disease and identifying the most appropriate treatment for individuals has been difficult.  To date, there have been limited reports that include few more than 50 patients diagnosed with ependymoma.

However, through the development of a state of the art online submission system, the CERN Foundation has pulled together over 20 hospitals and medical centers from around the world, creating one of the largest repositories of brain tumors collected.  Our repository currently has more than six hundred tumor tissue samples that include not only the characteristics of the person being diagnosed, but also how they were treated in the clinical setting. This information allows us to better understand the disease, and help to uncover genetic and molecular changes in the tumor which can then be targeted in developed treatment.

These tumor tissue samples have contributed to the CERN Foundation research team’s ability to characterize ependymoma tumor samples based on genetics and they have been able to correlate the tumor genetics with patient outcomes.  Studies of a patient’s DNA, which is the genetic make-up of the tumor, have allowed them to identify key cancer genes that help to determine how an individual’s tumor will behave.   Thus far, the CERN Foundation research team has identified molecular subtypes of ependymoma that have major clinical relevance, and have enabled them to distinguish patients whose tumors might be more aggressive, and therefore warrant more intensive therapy.

Results from this study will help the CERN Foundation researchers and clinicians in the development and design of the CERN Foundation’s next set of clinical trials so that an individual patient can be matched with drugs tailored based on their tumors’ genetic make-up.

Research Publications

To date, the findings of the CERN Foundation team has resulted in four publications reporting on the treatment and survival of individuals diagnosed with ependymoma based on historical data and evaluation of tissue samples submitted on this protocol.

Specific findings include:

  • The identification of molecular subtypes of ependymoma that have very different tumor behavior.
  • The way we classify ependymoma currently, how a pathologist would grade the tumor will be evaluated at the next WHO (World Health Organization) conference given the findings of our researchers that showed distinct differences based upon the location of the tumor (for example, some features are important in one tumor location, but not in another).

Prior to these publications, there was very limited data concerning the clinical course and tumor characteristics.  Most of the information available was either based on case studies or based on outcomes from a very small number of patients.  The results of these publications generated through the CERN Foundation team have provided a framework to further understand the potential disease course for individual patients with the hope that clinicians will be able to improve discussions with patients and their families, as well as allow for a better treatment plan.

What are the hopes and plans for the future of Project II?

With access to the largest brain tumor tissue repository, we hope to further define and validate the molecular subtypes of ependymoma, develop prognostic markers, and influence the diagnostic classification of tumors around the world.  Additionally, we plan to expand the study to collect tumor tissue from the time of diagnosis and to follow people with ependymoma prospectively, in order to apply what we have learned.  This information will hopefully allow us to achieve the ultimate goal for Project II that is to identify therapeutic targets for ependymoma within each of the three major sites of origin.

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