Related Experiment Video
Updated: May 28, 2026
On-Site Sampling and Extraction of Brain Tumors for Metabolomics and Lipidomics Analysis
Published on: May 31, 2020
Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?
Elvis Terci Valera1, María Sol Brassesco, Carlos Alberto Scrideli
1Department of Pediatrics, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil. etvalera@hcrp.fmrp.usp.br
Introduction:
Cancer-prone genetic disorders are responsible for brain tumors in a considerable proportion of children. Additionally, rare genetic syndromes associated to cancer development may potentially disclose genetic mechanisms related to oncogenesis.
Method:
We describe two pediatric patients with encephalocraniocutaneous lipomatosis (ECCL), a very rare genetic syndrome with around 60 reported cases, which developed low-grade astrocytoma at 3 and 12 years of age.
Results:
Patients with ECCL seem to be at risk of benign forms of osseous tumors such as ossifying fibromas, odontomas, and osteomas.
Conclusion:
The association between brain tumor and ECCL was previously reported only once, in a pediatric case of a mixed neuronal-glial histology. Whether ECCL may be a genetic condition of predisposing brain tumor in children strongly needs to be addressed.
