Retinoblastoma and deletion of the long arm of chromosome 13: an underestimated diagnosis?
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.
Brichard
Bénédicte
B
Department of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium. Brichard@pedi.ucl.ac.be
Chantrain
Christophe
C
Gala
Jean-Luc
JL
Sibille
Catherine
C
Vermylen
Christiane
C
De Potter
Patrick
P
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D016190:Carboplatin / Q000008:administration & dosage; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics / Q000648:ultrastructure*; D003131:Combined Modality Therapy; D005047:Etoposide / Q000008:administration & dosage; D015353:Eye Enucleation; D005188:False Negative Reactions; D005260:Female; D016161:Genes, Retinoblastoma; D006801:Humans; D006979:Hyperthermia, Induced; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012074:Remission Induction; D019572:Retinal Neoplasms / Q000235:genetics* / Q000628:therapy; D012175:Retinoblastoma / Q000235:genetics* / Q000628:therapy; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic / Q000235:genetics*; D014750:Vincristine / Q000008:administration & dosage
D014750:Vincristine; D005047:Etoposide; D016190:Carboplatin