Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?

Autor(es)

Valera, Elvis Terci ^{[1, 2]} ; Brassesco, Maria Sol ^[1] ; Scrideli, Carlos Alberto ^[1] ; de Castro Barros, Marcus Vinicius ^[3] ; Santos, Antonio Carlos ^[4] ; Oliveira, Ricardo Santos ^[5] ; Machado, Helio Rubens ^[5] ; Tone, Luiz Gonzaga ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Dept Pediat, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil

^[2] Ribeirao Preto USP, Dept Pediat, Hosp Clin, Fac Med, Ribeirao Preto, SP - Brazil

^[3] Univ Sao Paulo, Dept Pathol, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil

^[4] Univ Sao Paulo, Div Radiol, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil

^[5] Univ Sao Paulo, Div Neurosurg, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil

• Tipo de documento: Artigo Científico
• Fonte: CHILD'S NERVOUS SYSTEM; v. 28, n. 1, p. 19-22, JAN 2012.
• Citações Web of Science: 11

Resumo

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. 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. Patients with ECCL seem to be at risk of benign forms of osseous tumors such as ossifying fibromas, odontomas, and osteomas. 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. (AU)

• Processo FAPESP: 10/15717-0 - Análise de aberrações cromossômicas em neoplasias da Infância através de citogenética convencional e Hibridização in situ fluorescente (FISH)
• Beneficiário: Elvis Terci Valera
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 10/16652-9 - Inibição do NF-kB em glioblastoma: efeitos in vitro e in vivo do DHMEQ na quimioresistência, invasão e proliferação tumoral
• Beneficiário: María Sol Brassesco Annichini
• Modalidade de apoio: Bolsas no Brasil - Jovens Pesquisadores