title: Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma.
abstract: Retinoblastoma and Wilms' tumor are rare childhood embryonic tumors associated with loss or inactivation of tumor suppressor genes, RB1 located within 13q14, and WT1 located within 11p13. Interchromosomal insertional translocations occur rarely, and such rearrangements within RB1 or WT1, even rarer. We report a unique family in which an insertional translocation of a chromosomal segment that included band 13q14 inserted into 11p13 caused childhood Wilms' tumor in the father, and whose child developed bilateral retinoblastoma. This is the first case of an insertional translocation that caused both tumors. This insertional translocation had significant consequences for genetic counseling and in utero diagnosis. The estimated risk for an offspring of this father to develop Wilms' tumor is up to 50%, to develop retinoblastoma up to 25%, to have neither tumor 25%, and to have both tumors 0%.
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario, M5G 1X8 Canada.
authors.forename: Angela
authors.initials: A
authors.lastname: Punnett
authors.forename: Ikuko
authors.initials: I
authors.lastname: Teshima
authors.forename: Elise
authors.initials: E
authors.lastname: Heon
authors.forename: Andrew
authors.initials: A
authors.lastname: Budning
authors.forename: Joanne
authors.initials: J
authors.lastname: Sutherland
authors.forename: Brenda L
authors.initials: BL
authors.lastname: Gallie
authors.forename: Helen S L
authors.initials: HS
authors.lastname: Chan
mesh_terms: D002871:Chromosome Banding; D002875:Chromosomes / Q000648:ultrastructure; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000235:genetics; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D008957:Models, Genetic; D011296:Prenatal Diagnosis; D012175:Retinoblastoma / Q000209:etiology* / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics; D012306:Risk; D014178:Translocation, Genetic; D025721:WT1 Proteins / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: D016160:Retinoblastoma Protein; D025721:WT1 Proteins