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Retinoblastoma and deletion of the long arm of chromosome 13: an underestimated diagnosis?

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Brichard, Bénédicte [UCL] Chantrain, Christophe [UCL] Gala, Jean-Luc [UCL] Sibille, Catherine Vermylen, Christiane [UCL] De Potter, Patrick [UCL]

We report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype. We recommend systematic cytogenetic examinations complemented by fluorescent in situ hybridization as second-line screening in all patients suspected for hereditary RB despite negative RB1 molecular screening and normal phenotype.

Document type Article de périodique (Journal article) – Article de recherche – Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Access type Accès restreint
Publication date 2008
Language Anglais
Journal information "Pediatric blood & cancer" - Vol. 50, no. 3, p. 694-6 (2008)
Peer reviewed yes
issn 1545-5009
e-issn 1545-5017
Publication status Publié
Affiliations UCL - (SLuc) Service d'ophtalmologie
UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie
UCL - MD/MINT - Département de médecine interne
UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique
UCL - MD/NOPS - Département de neurologie et de psychiatrie
MESH Subject Antineoplastic Combined Chemotherapy Protocols - therapeutic use ; Carboplatin - administration & dosage ; Chromosome Deletion ; Chromosomes, Human, Pair 13 - genetics - ultrastructure ; Chromosomes, Human, Pair 8 - genetics - ultrastructure ; Combined Modality Therapy ; Etoposide - administration & dosage ; Eye Enucleation ; False Negative Reactions ; Female ; Genes, Retinoblastoma ; Humans ; Hyperthermia, Induced ; In Situ Hybridization, Fluorescence ; Infant ; Neoplasms, Multiple Primary - genetics ; Remission Induction ; Retinal Neoplasms - genetics - therapy ; Retinoblastoma - genetics - therapy ; Skull - abnormalities ; Translocation, Genetic - genetics ; Vincristine - administration & dosage
Links
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Bibliographic reference Brichard, Bénédicte ; Chantrain, Christophe ; Gala, Jean-Luc ; Sibille, Catherine ; Vermylen, Christiane ; et. al. Retinoblastoma and deletion of the long arm of chromosome 13: an underestimated diagnosis?. In: Pediatric blood & cancer, Vol. 50, no. 3, p. 694-6 (2008)
Permanent URL http://hdl.handle.net/2078.1/23449