A 10-year experience of outcome in chemotherapy-treated hereditary retinoblastoma.
PURPOSE
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.


CONCLUSION
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.
['Bartuma|Katarina|K|', 'Pal|Niklas|N|', 'Kosek|Sonja|S|', 'Holm|Stefan|S|', 'All-Ericsson|Charlotta|C|']
D000971:Antineoplastic Combined Chemotherapy Protocols D016190:Carboplatin D002675:Child, Preschool D003131:Combined Modality Therapy D017679:Cryotherapy D005047:Etoposide D005260:Female D005500:Follow-Up Studies D006801:Humans D006979:Hyperthermia, Induced D007223:Infant D007231:Infant, Newborn D008297:Male D019572:Retinal Neoplasms D012175:Retinoblastoma D012189:Retrospective Studies D016896:Treatment Outcome D014750:Vincristine D014792:Visual Acuity
hereditary retinoblastoma chemotherapy failure rate visual acuity focal therapy