Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases.
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.
Scattone
Anna
A
Dipartimento di Anatomia Patologica e di Genetica, Università di Bari, Policlinico, Piazza Giulio Cesare, 11, 70124, Bari (I), Italy.
Caruso
Gilda
G
Marzullo
Andrea
A
Piscitelli
Domenico
D
Gentile
Mattia
M
Bonadonna
Lucia
L
Balducci
Giuseppe
G
Digilio
Maria Cristina
MC
Jenkner
Alessandro
A
Camassei
Francesca Diomedi
FD
Boldrini
Renata
R
Nazzaro
Pietro
P
Pollice
Lucio
L
Serio
Gabriella
G
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