Retinoblastoma diagnosed as granulomatous uveitis.
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BACKGROUND: To assess the impact of providing research feedback to retinoblastoma survivors or their parents regarding the risk of second cancers. PROCEDURE: A four-page survey was sent to 801 retinoblastoma survivors and 55 parents to ascertain their reactions to a "results-letter." The "results-letter" provided feedback from a study indicating that retinoblastoma survivors may be at increased risk of second cancers. RESULTS: Three hundred and thirty-nine (339) retinoblastoma survivors and 43 parents responded to the survey. Eighty-four percent (84%) of respondents found the "results-letter" "very" to "extremely" understandable and 72% found it "very" to "extremely" useful. Participants scored "very" to "extremely" to the following emotions: frightened = 28%, anxious = 27%, sad = 25%, overwhelmed = 15%, angry = 11%, and guilty = 6%. Five (1.4%) respondents stated that they would have preferred not to receive the results. Responses did not vary significantly between survivors with different risks of second cancers. No significant differences were observed between males and females. However, parents were significantly more likely to report feelings of anxiety, guilt, anger, being overwhelmed, and frightened compared to adult retinoblastoma survivors (P < 0.05). Individuals with less than a college education were significantly more sad, angry, overwhelmed, and frightened by the information than individuals with a college degree or higher (P < 0.05). Eighteen percent (18%) of all respondents shared the feedback with their physician. The method of choice for receiving results was by letter with contact names and phone numbers. CONCLUSIONS: These findings indicate that research participants want feedback even when the information is upsetting. Additional studies are needed to identify individuals who experience greater levels of distress following feedback in an attempt to provide improved methods of feedback and support.
BACKGROUND: The prognosis of intraocular lymphoma (IOL) is poor, and the optimal treatment has yet to be defined. This study assesses the clinical characteristics and outcome of patients with IOL diagnosed and treated in the new millennium. METHODS: Patient data in this retrospective multicentre study were compiled by standardised questionnaires sent to seven university ophthalmology departments. All cases diagnosed with primary and secondary IOL in the past 5 years not associated with HIV infection were included. RESULTS: Twenty-two patients, 11 men and women; median age 64 (range 38-83) years, median Karnofsky performance status 90% (range 50-100%), were included. Nineteen patients had primary IOL (PIOL): 13 a newly diagnosed disease and six an ocular relapse of primary central nervous system lymphoma (PCNSL). Three patients had secondary IOL. First-line treatment for IOL included systemic chemotherapy in 13 cases, ocular radiation in six and intraocular chemotherapy in three. Complete remission was achieved in 14/20 evaluable patients, partial remission in five and stable disease in one. All patients treated with ifosfamide (IFO) or trofosfamide (TRO) (n=8) responded. Median progression-free survival (PFS) and overall survival were 10 (range 1+ to 44.5+) and 22.5 (range 1+ to 49+) months, respectively. Patients with newly diagnosed PIOL and ocular relapse of PCNSL had a median PFS of 10 (range 1+ to 44.5+) and 6 (range 2 to 6+) months, respectively. Median PFS was 12 (range 3+ to 22.5+) months after systemic and 5.5 (range 1+ to 44.5+) months after local first-line therapy. CONCLUSIONS: The prognosis of PIOL is similar to that of PCNSL without ocular involvement. Systemic therapy possibly prolongs PFS as compared with local management of (P)IOL. The high response rate to monotherapy with IFO and TRO is promising.
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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.
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PURPOSE: To report a case of pleomorphic adenoma of the lacrimal gland following irradiation for bilateral retinoblastoma. MATERIALS AND METHODS: Case report. A 4-month-old girl, with bilateral retinoblastoma, underwent enucleation of the right eye, systemic chemotherapy and bilateral external beam irradiation with a lateral field. The right anophthalmic socket (because of infiltration of the optic nerve) and the left eye (for relapse) were irradiated;. 17 years later, she developed a mass in the superotemporal quadrant of the left orbit. The mass was completely excised. RESULTS: Pleomorphic adenoma is rare in children and teenagers; it usually presents as a painless, slow growing mass in healthy adults. In this case, it developed as a second primary tumor after irradiation for retinoblastoma.
Primary intraocular lymphoma (PIOL) is a type of primary central nervous system lymphoma (PCNSL). It is the most common neoplastic masquerade syndrome involving the eye. Its protean ocular manifestations, plus in many cases the initial positive response to corticosteroid therapy for presumed uveitis, delay accurate diagnosis. A high index of suspicion is essential, followed by tissue biopsy with cytology and ancillary studies. Current treatment is based on chemotherapy featuring high-dose methotrexate and radiation therapy. Prognosis is poor due to CNS involvement, but newer therapies have had some success in prolonging survival.
PURPOSE: Nm23 is a metastasis-suppressor protein. Decreased nm23 protein contributes to aggressiveness in many tumors. Nm23 immunoreactivity was studied in retinoblastoma and correlated with differentiation and invasiveness. METHODS: Immunohistochemistry was performed on 73 formalin-fixed, paraffin-embedded specimens of retinoblastoma. Western blot was conducted to confirm the immunohistochemical study. Prognostic features such as differentiation, invasion of choroid, optic nerve, and orbit, and metastasis were analyzed. RESULTS: Intense nm23 immunoreactivity was seen in 61% of the retinoblastomas with no invasion and faint nm23 immunoreactivity was seen in 85% of the retinoblastomas with invasion (p < 0.001). Poorly differentiated retinoblastoma showed decreased nm23 immunoreactivity compared to well-differentiated retinoblastomas (p = 0.02). An inverse correlation was observed between invasion of choroid, optic nerve, orbit, and metastasis, and nm23 immunoreactivity. Western blot assays of fresh tumor extracts confirmed the immunohistochemical findings. CONCLUSIONS: Decreased nm23 immunoreactivity was seen in poorly differentiated retinoblastomas and in retinoblastomas with invasiveness. These findings may lay the groundwork for further studies to better understand the molecular mechanisms and provide a more accurate prediction of invasion and metastasis of retinoblastoma.