Mowat-Wilson syndrome: the first report of an association with central nervous system tumors

Autor(es)

Valera, Elvis Terci ^{[1, 2]} ; Ferraz, Sabrine Teixeira ^[1] ; Brassesco, Maria Sol ^[3] ; Zhen, Xiumei ^{[4, 5]} ; Shen, Yiping ^[4] ; Santos, Antonio Carlos dos ^[6] ; Neder, Luciano ^[7] ; Oliveira, Ricardo Santos ^[8] ; Scrideli, Carlos Alberto ^[1] ; Tone, Luiz Gonzaga ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Pediat, Div Pediat Oncol, BR-05508 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med Ribeirao Preto, Hosp Clin, Dept Pediatria, BR-14048900 Ribeirao Preto, SP - Brazil

^[3] Univ Sao Paulo, Fac Philosophy Sci & Letters Ribeirao Preto, BR-05508 Sao Paulo - Brazil

^[4] Childrens Hosp, Dept Lab Med, Genet Diagnost Lab, Boston, MA 02115 - USA

^[5] Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100871 - Peoples R China

^[6] Univ Sao Paulo, Fac Med Ribeirao Preto, Div Radiol, BR-05508 Sao Paulo - Brazil

^[7] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Pathol, BR-05508 Sao Paulo - Brazil

^[8] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Surg & Anat, Div Pediat Neurosurg, BR-05508 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: CHILD'S NERVOUS SYSTEM; v. 29, n. 12, p. 2151-2155, DEC 2013.
• Citações Web of Science: 10

Resumo

Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child. (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