Multiple neoplasia in a 15-year-old girl with familial adenomatous polyposis

• Published in: Journal of pediatric hematology/oncology Vol. 31; no. 7; pp. 530 - 532
• Main Authors: Brasseur, Benoit, Dahan, Karin, Beauloye, Véronique, Blétard, Noella, Chantrain, Christophe, Dupont, Sophie, Guarin, Jean-Luc, Vermylen, Christiane, Brichard, Bénédicte
• Format: Journal Article
• Language: English
• Published: United States 01-07-2009
• Subjects: Adenomatous Polyposis Coli - complications; Adenomatous Polyposis Coli - genetics; Adolescent; Child; Child, Preschool; DNA Mutational Analysis; Female; Gene Deletion; Genes, APC; Germ-Line Mutation; Humans; Neoplasms, Multiple Primary - complications; Neoplasms, Multiple Primary - genetics; Pedigree; Polymerase Chain Reaction
• ISSN: 1077-4114; 1536-3678
• DOI: 10.1097/MPH.0b013e3181984f91

A 15-year-old girl with adenomatous polyposis coli gene (APC) mutation and brain tumor-polyposis syndrome developed an unusual succession of cervicocephalic tumors (medulloblastoma, meningeal low-grade myxoid tumor, and papillary thyroid carcinoma), at the age of 5, 9, and 15 years, respectively. We discuss the genetic profile of the thyroid tumor in which a large somatic deletion of APC gene was found and the physiopathology of thyroid carcinoma in patients with germline APC mutation. We also point out the uncommon phenotype in this young girl with early multiple neoplasias and the difficulties of management of such familial adenomatous polyposis patients with occurrence of extracolonic cancers that require the use of potential trigger agents as radiotherapy or chemotherapy.