Recurrent somatic chromosomal abnormalities in relapsed extraocular retinoblastoma

Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patients and 27 specimens from 4 centers. Seventeen cas...

Descripción completa

Detalles Bibliográficos
Autores: Aschero, María del Rosario, Francis, Jasmine H., Ganiewich, Daiana, Gomez Gonzalez, Soledad, Sampor, Claudia, Zugbi, Santiago, Ottaviani, Daniela, Lemelle, Lauriane, Mena, Marcela Daniela C, Winter, Ursula Andrea, Correa Llano, Genoveva, Lamas, Gabriela, Lubieniecki, Fabiana, Szijan, Irene, Mora, Jaume, Podhajcer, Osvaldo Luis, Doz, François, Radvanyi, François, Abramson, David H., Llera, Andrea Sabina, Schaiquevich, Paula Susana, Lavarino, Cinzia, Chantada, Guillermo Luis
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/142785
Acceso en línea:http://hdl.handle.net/11336/142785
Access Level:acceso abierto
Palabra clave:BCOR MUTATIONS
COPY NUMBER ALTERATION
EXTRAOCULAR RETINOBLASTOMA
GENOMIC
METASTASIS
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
Descripción
Sumario:Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patients and 27 specimens from 4 centers. Seventeen cases had extraocular relapse after initial enucleation and six cases after an initial preservation attempt. We performed an analysis of CNA and BCOR gene alteration by SNP array (Single Nucleotide Polymorfism array), whole-exome sequencing, IMPACT panel and CGH array (Array-based comparative genomic hybridization). All cases presented CNA at a higher prevalence than those reported in previously published studies for intraocular cases. CNA previously reported for intraocular retinoblastoma were found at a high frequency in our cohort: gains in 1q (69.5%), 2p (60.9%) and 6p (86.9%), and 16q loss (78.2%). Other, previously less-recognized, CNA were found including loss of 11q (34.8%), gain of 17q (56.5%), loss of 19q (30.4%) and BCOR alterations were present in 72.7% of our cases. A high number of CNA including 11q deletions, 17q gains, 19q loss, and BCOR alterations, are more common in extraocular retinoblastoma. Identification of these features may be correlated with a more aggressive tumor warranting consideration for patient management.

Similares en LA Referencia