title: THE RECOGNITION OF CAVITARY RETINOBLASTOMA TUMORS: Implications for Management and Genetic Analysis.
abstract: OBJECTIVE
  To assess the role of consolidating adjuvant therapy for cavitary retinoblastoma and to understand if there is any phenotype-genotype correlation.
  
  
  METHODS
  Patients with retinoblastomas having ophthalmoscopically visible cavities between 2004 and 2014 in whom 4 to 6 cycles of systemic chemotherapy were given.
  
  
  RESULTS
  Eighteen eyes of 17 patients displayed cavitary retinoblastomas. This represented 6.8% of 250 patients. Mean age at diagnosis was 13 months; 5 unilateral (29%) and 12 bilateral (71%). The mean (median, range) number of retinoblastoma tumors per eye was 2 (2; 1-6). The number of cavities per tumor was 3 (2, 1-6). Intratumoral cavities were seen in the superficial portion of the tumor in 10 eyes (55%). The cavities became visible in eight eyes (44%) and collapsed in eight eyes (44%). Two eyes required enucleation because of relapse in noncavitary tumors. Germline mutations were detected in 14 patients (82%) of whom four demonstrated mosaicism (29%); only one had a low penetrant mutation. The mean follow-up period was 40 (35, 6-120) months.
  
  
  CONCLUSIONS
  Cavitary retinoblastomas can be detected after systemic chemotherapy with cavities becoming visible after mean two cycles of chemotherapy (secondary cavitary retinoblastoma). The etiology is uncertain. They remain stable and do not require aggressive adjuvant therapy. There was no evident phenotype-genotype correlation with mosaicism noted in 29%.
authors.affiliation: Retinoblastoma Unit, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.|Pediatrics and Ocular Oncology Services, Moorfields Eye Hospital, London, United Kingdom.
authors.forename: Shabana
authors.initials: S
authors.lastname: Chaudhry
authors.affiliation: Retinoblastoma Unit, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.
authors.forename: Zerrin
authors.initials: Z
authors.lastname: Onadim
authors.affiliation: Retinoblastoma Unit, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.|Pediatrics and Ocular Oncology Services, Moorfields Eye Hospital, London, United Kingdom.|National Institute for Health Research Biomedical Research Centre, UCL Institute of Ophthalmology, London, United Kingdom.
authors.forename: Mandeep S
authors.initials: MS
authors.lastname: Sagoo
authors.affiliation: Retinoblastoma Unit, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.|Pediatrics and Ocular Oncology Services, Moorfields Eye Hospital, London, United Kingdom.|National Institute for Health Research Biomedical Research Centre, UCL Institute of Ophthalmology, London, United Kingdom.
authors.forename: M Ashwin
authors.initials: MA
authors.lastname: Reddy
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use*; D017024:Chemotherapy, Adjuvant; D002675:Child, Preschool; D017679:Cryotherapy / Q000379:methods; D005260:Female; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011878:Radiotherapy / Q000379:methods; D019572:Retinal Neoplasms / Q000235:genetics / Q000628:therapy*; D012175:Retinoblastoma / Q000235:genetics / Q000628:therapy*
chemical_list: D000970:Antineoplastic Agents