Metastatic retinoblastoma clinical features, treatment, and prognosis

Abstract

Purpose: To evaluate the clinical features, treatment, and prognosis in patients with metastatic retinoblastoma.

Design: Retrospective interventional case series.

Participants: Eighteen consecutive patients with metastatic retinoblastoma who were diagnosed and managed at the Oncology Service of Ankara University, Turkey, between January 1999 and January 2005.

Methods: All patients underwent magnetic resonance imaging (MRI) of the orbit and brain, lumbar puncture, bone marrow aspiration, and bone scintigraphy for metastatic evaluation. Histopathologic confirmation of retinoblastoma via enucleation, exenteration, or orbital biopsy was obtained in each patient. The status of extraocular spread (optic nerve, extrascleral extension, or both) was assessed based on histopathologic or MRI results. Systemic treatment for metastatic retinoblastoma consisted of chemotherapy and radiotherapy (craniospinal, orbital, or both), if necessary.

Main outcome measures: Status of extraocular spread, site of metastasis, and survival from metastatic retinoblastoma.

Results: At presentation, the mean patient age was 45 months (range, 13-86). Ten patients had unilateral retinoblastoma, 7 had bilateral retinoblastoma, and 1 had trilateral retinoblastoma. All patients with metastatic retinoblastoma had histopathologic or MRI evidence of unilateral extraocular disease characterized by optic nerve involvement, extrascleral extension, or both. Nine of 18 patients experienced central nervous system (CNS) involvement, 5 patients had distant and CNS metastasis, and 4 patients had distant metastasis only. Fourteen patients underwent craniospinal irradiation and 12 had orbital irradiation. At a mean follow-up of 24 months (range, 4-62), all patients with CNS and concurrent distant and CNS metastasis were deceased. Four patients who had distant metastasis only were alive at a follow-up ranging from 9 to 62 months.

Conclusions: The prognosis for metastatic retinoblastoma is dismal and the presence of CNS involvement may portend an even worse outcome.