TY - JOUR
T1 - Neoplastic disease and deletion 22q11.2
T2 - A multicentric study and report of two cases
AU - Scattone, Anna
AU - Caruso, Gilda
AU - Marzullo, Andrea
AU - Piscitelli, Domenico
AU - Gentile, Mattia
AU - Bonadonna, Lucia
AU - Balducci, Giuseppe
AU - Digilio, Maria Cristina
AU - Jenkner, Alessandro
AU - Camassei, Francesca Diomedi
AU - Boldrini, Renata
AU - Nazzaro, Pietro
AU - Pollice, Lucio
AU - Serio, Gabriella
PY - 2003/7
Y1 - 2003/7
N2 - 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 lq 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.
AB - 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 lq 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.
KW - 22q11.2 deletion
KW - Cardiac defects
KW - Hepatoblastoma
KW - Renal cell carcinoma
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UR - http://www.scopus.com/inward/citedby.url?scp=10744230200&partnerID=8YFLogxK
U2 - 10.1080/15227950307713
DO - 10.1080/15227950307713
M3 - Article
C2 - 14692228
AN - SCOPUS:10744230200
VL - 22
SP - 323
EP - 341
JO - Pediatric Pathology and Molecular Medicine
JF - Pediatric Pathology and Molecular Medicine
SN - 1522-7952
IS - 4
ER -