title: Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases.
abstract: Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.
authors.affiliation: Dipartimento di Anatomia Patologica e di Genetica, Università di Bari, Policlinico, Piazza Giulio Cesare, 11, 70124, Bari (I), Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Scattone
authors.forename: Gilda
authors.initials: G
authors.lastname: Caruso
authors.forename: Andrea
authors.initials: A
authors.lastname: Marzullo
authors.forename: Domenico
authors.initials: D
authors.lastname: Piscitelli
authors.forename: Mattia
authors.initials: M
authors.lastname: Gentile
authors.forename: Lucia
authors.initials: L
authors.lastname: Bonadonna
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Balducci
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Alessandro
authors.initials: A
authors.lastname: Jenkner
authors.forename: Francesca Diomedi
authors.initials: FD
authors.lastname: Camassei
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.forename: Pietro
authors.initials: P
authors.lastname: Nazzaro
authors.forename: Lucio
authors.initials: L
authors.lastname: Pollice
authors.forename: Gabriella
authors.initials: G
authors.lastname: Serio
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology; D018197:Hepatoblastoma / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology*; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic