title: Spontaneous rupture of an advanced pancreatoblastoma: aberrant RASSF1A methylation and CTNNB1 mutation as molecular genetic markers.
abstract: Pancreatoblastoma is a rare pancreatic tumor that is most commonly encountered in infants and young children. This report describes an unusual presentation of a large pancreatic body pancreatoblastoma presenting with intraabdominal bleeding due to spontaneous rupture of the tumor in a 5-year-old boy. Subsequent molecular analysis from the resected specimen identified a mutation in CTNNB1 and aberrant methylation of the tumor suppressor RASSF1A.
authors.affiliation: Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Shohei
authors.initials: S
authors.lastname: Honda
authors.forename: Tadao
authors.initials: T
authors.lastname: Okada
authors.forename: Hisayuki
authors.initials: H
authors.lastname: Miyagi
authors.forename: Masatsugu
authors.initials: M
authors.lastname: Minato
authors.forename: Hiromu
authors.initials: H
authors.lastname: Suzuki
authors.forename: Akinobu
authors.initials: A
authors.lastname: Taketomi
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005819:Genetic Markers; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008745:Methylation; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D012422:Rupture, Spontaneous; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D051176:beta Catenin / Q000235:genetics*
chemical_list: C495270:CTNNB1 protein, human; D005819:Genetic Markers; C411762:RASSF1 protein, human; D025521:Tumor Suppressor Proteins; D051176:beta Catenin