Neoplastic disease and deletion 22q11.2: A multicentric study and report of two cases

Anna Scattone, Gilda Caruso, Andrea Marzullo, Domenico Piscitelli, Mattia Gentile, Lucia Bonadonna, Giuseppe Balducci, Maria Cristina Digilio, Alessandro Jenkner, Francesca Diomedi Camassei, Renata Boldrini, Pietro Nazzaro, Lucio Pollice, Gabriella Serio

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)323-341
Number of pages19
JournalPediatric Pathology and Molecular Medicine
Issue number4
Publication statusPublished - Jul 2003


  • 22q11.2 deletion
  • Cardiac defects
  • Hepatoblastoma
  • Renal cell carcinoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health


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