title: Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma.
abstract: Familial adenomatous polyposis is an inherited disorder characterized by the development of hundreds of colorectal adenomas during adolescence, which in many cases will transform into colorectal cancer by the fourth decade of life, along with the development of various malignant tumors including hepatoblastoma. We report on a female patient with a de novo interstitial deletion of 5q21.3-q23.3, encompassing the APC gene, associated with adenomatous polyposis and early colorectal cancer, hepatoblastoma, epidermoid cysts, mental retardation, several mild dysmorphic signs and lower limb venous thrombosis.
authors.affiliation: Division of Pediatric Oncology, A Gemelli Hospital, Catholic University of Rome, Rome, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Lazzareschi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Barone
authors.forename: Stefano
authors.initials: S
authors.lastname: Mastrangelo
authors.forename: Ilaria Francesca
authors.initials: IF
authors.lastname: Furfaro
authors.forename: Giacomo
authors.initials: G
authors.lastname: Rando
authors.forename: Riccardo
authors.initials: R
authors.lastname: Riccardi
mesh_terms: D000230:Adenocarcinoma / Q000150:complications / Q000235:genetics* / Q000601:surgery; D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics*; D000293:Adolescent; D017668:Age of Onset; D002895:Chromosomes, Human, Pair 5; D003082:Colectomy; D003110:Colonic Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D004814:Epidermal Cyst / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007415:Intestinal Obstruction / Q000209:etiology / Q000601:surgery; D008113:Liver Neoplasms / Q000235:genetics*; D008207:Lymphatic Metastasis; D020246:Venous Thrombosis / Q000235:genetics; D055815:Young Adult