Ongoing research project San Juan de Dios Hospital (Barcelona)

Reunión 5 de agosto con los investigadores, miembros de las asociaciones

Research Project

Translational Research in Gliomatosis Cerebri.

Principal Investigators

Ofelia Cruz, MD and Andres Morales, MD. Pediatric Oncology Unit, Hospital Sant Joan de Deu Barcelona. (Spain).

Why is research in gliomatosis cerebri necessary?

Gliomatosis cerebri (GC) is a very rare and highly aggressive brain tumor of glial cells. There is no cure for this disease and all current treatment options are limited and palliative. Malignant cells grow diffusely in several parts of the brain, causing progressive neurologic symptoms including motor and sensitive deficits, seizures and neuro-cognitive decline. Brain magnetic resonance imaging shows diffuse infiltration of at least two different areas of the brain, characteristically without a well demarcated primary tumor. Given its very low incidence and peculiar and sometimes nonspecific radiologic appearance, the diagnosis of this entity is challenging. Therefore, the true incidence of this disease is probably underestimated. In addition, the largely unknown biology of GC has precluded clinical researchers the ability of finding active and effective medical treatments.

Research Project Objectives

  1. To study the epidemiology of GC in the pediatric population in Spain, in collaboration with a network of medical institutions.
  2. To increase the awareness of GC to the general population and health care providers through a web page. This electronic resource will provide of up to date knowledge about this condition, diagnostic and treatment guidelines and the most recent research projects.
  3. To centralize the diagnosis and treatment of patients with GC in the Pediatric Oncology Unit at Hospital Sant Joan de Deu in Barcelona (Spain). Due to the rareness and complexity of this disease and the challenges during the diagnostic process and therapeutic management, these patients would benefit from a multidisciplinary approach in a single institution dedicated to the care of children with devastating diseases.
  4. Diagnosis confirmation by tissue examination is paramount in the treatment of any oncologic condition. After an adequate referral of patients suspected of having GC (performed in a timely fashion), we will make a full evaluation of the clinical and radiologic findings. If GC is presumed by our team, a biopsy will be recommended for histologic confirmation. Once this objective is accomplished, any extra tissue will be used to characterize the genetics of GC. We will perform powerful genome analysis in tumor samples. Also, we will try to collect tumor samples obtained in the past through biopsy or at autopsy. Functional pathways and gene expression profiling will be investigated to establish a molecular classification of the disease and to identify suitable therapeutic targets.
  5. To establish clinically relevant preclinical models in mice of GC from tumor tissue obtained from biopsies of patients at diagnosis. We hypothesize that through the selection of tumor stem cells we will be able to re-create in vitro and in vivo models what truly occurs in nature with this disease. The development of such models will allow us to improve our knowledge in the biology of this entity and to test new therapies that will target key pathways for the immortality of this aggressive malignancy. This part of the research will be led by Angel Montero Carcaboso at Hospital Sant Joan de Deu Barcelona.