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

doi:10.1080/15227950307713

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 journal › Article › peer-review

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 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 language	English
Pages (from-to)	323-341
Number of pages	19
Journal	Pediatric Pathology and Molecular Medicine
Volume	22
Issue number	4
DOIs	https://doi.org/10.1080/15227950307713
Publication status	Published - Jul 2003

Keywords

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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10.1080/15227950307713

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Scattone, A., Caruso, G., Marzullo, A., Piscitelli, D., Gentile, M., Bonadonna, L., Balducci, G., Digilio, M. C., Jenkner, A., Camassei, F. D., Boldrini, R., Nazzaro, P., Pollice, L., & Serio, G. (2003). Neoplastic disease and deletion 22q11.2: A multicentric study and report of two cases. Pediatric Pathology and Molecular Medicine, 22(4), 323-341. https://doi.org/10.1080/15227950307713

Neoplastic disease and deletion 22q11.2 : A multicentric study and report of two cases. / Scattone, Anna; Caruso, Gilda; Marzullo, Andrea; Piscitelli, Domenico; Gentile, Mattia; Bonadonna, Lucia; Balducci, Giuseppe; Digilio, Maria Cristina ; Jenkner, Alessandro; Camassei, Francesca Diomedi; Boldrini, Renata; Nazzaro, Pietro; Pollice, Lucio; Serio, Gabriella.

In: Pediatric Pathology and Molecular Medicine, Vol. 22, No. 4, 07.2003, p. 323-341.

Research output: Contribution to journal › Article › peer-review

Scattone, A, Caruso, G, Marzullo, A, Piscitelli, D, Gentile, M, Bonadonna, L, Balducci, G, Digilio, MC , Jenkner, A, Camassei, FD, Boldrini, R, Nazzaro, P, Pollice, L & Serio, G 2003, 'Neoplastic disease and deletion 22q11.2: A multicentric study and report of two cases', Pediatric Pathology and Molecular Medicine, vol. 22, no. 4, pp. 323-341. https://doi.org/10.1080/15227950307713

Scattone, Anna ; Caruso, Gilda ; Marzullo, Andrea ; Piscitelli, Domenico ; Gentile, Mattia ; Bonadonna, Lucia ; Balducci, Giuseppe ; Digilio, Maria Cristina ; Jenkner, Alessandro ; Camassei, Francesca Diomedi ; Boldrini, Renata ; Nazzaro, Pietro ; Pollice, Lucio ; Serio, Gabriella. / Neoplastic disease and deletion 22q11.2 : A multicentric study and report of two cases. In: Pediatric Pathology and Molecular Medicine. 2003 ; Vol. 22, No. 4. pp. 323-341.

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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 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.",

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

Abstract

Keywords

ASJC Scopus subject areas

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