title: A 10-year experience of outcome in chemotherapy-treated hereditary retinoblastoma.
abstract: OBJECTIVE
  The aim is to report the 10-year retrospective experience of systemic chemotherapy for a population-based group of patients with hereditary retinoblastoma at a national referral centre. The outcomes include control rates, treatment side-effects, adjuvant therapy, failure rate, survival, secondary cancers and visual acuity.
  
  
  METHODS
  All patients (n = 24, 46 eyes) diagnosed with retinoblastoma and treated with systemic chemotherapy at a national referral centre during 2001-2011 were included. Data were extracted from medical records.
  
  
  RESULTS
  The patients were followed for a mean of 60 months (range 13-144). Four-six cycles of VEC was administered to all newly diagnosed group B/C/D/E eyes with bilateral disease and 83% (38 of 46) responded to the treatment. None of the patients discontinued chemotherapy because of adverse reactions. Altogether 26% (12 of 46) of the eyes received second-line therapy (other than thermotherapy, cryotherapy and chemotherapy). The failure rate was 35% (16 of 46) and mortality rate 0%. None of the patients developed CNS manifestations (metastases or trilateral retinoblastoma). One of the patients developed a second primary tumour (osteosarcoma) 4 years following retinoblastoma diagnosis. Altogether 17% (4 of 24) patients received radiation therapy, 28% (13 of 46) of the eyes had to be enucleated, and one patient underwent bilateral enucleation. The age-correlated visual acuity was mean of 73% of expected visual acuity.
  
  
  CONCLUSIONS
  Group A/B retinoblastomas have a distinct chemotherapy response, while group C/D/E tumours do not respond as well. The success rate was 65%; while patients have a good prognosis for life, approximately one-third of all hereditary cases received radiation therapy or underwent enucleation.
authors.affiliation: Department of Vitreoretinal Diseases, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Katarina
authors.initials: K
authors.lastname: Bartuma
authors.forename: Niklas
authors.initials: N
authors.lastname: Pal
authors.forename: Sonja
authors.initials: S
authors.lastname: Kosek
authors.forename: Stefan
authors.initials: S
authors.lastname: Holm
authors.forename: Charlotta
authors.initials: C
authors.lastname: All-Ericsson
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D016190:Carboplatin / Q000627:therapeutic use; D002675:Child, Preschool; D003131:Combined Modality Therapy; D017679:Cryotherapy; D005047:Etoposide / Q000627:therapeutic use; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006979:Hyperthermia, Induced; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D019572:Retinal Neoplasms / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D012175:Retinoblastoma / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D012189:Retrospective Studies; D016896:Treatment Outcome; D014750:Vincristine / Q000627:therapeutic use; D014792:Visual Acuity
chemical_list: D014750:Vincristine; D005047:Etoposide; D016190:Carboplatin
keywords: chemotherapy; failure rate; focal therapy; hereditary retinoblastoma; visual acuity