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.
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.
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