Diagnostic and therapeutic challenges.
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Biopsy↗
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Results for “Retinal Neoplasms”
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[EFFECT OF OCULAR SURGERY ON PLASMIN ACTIVITY].
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Adolescent↗
Bilateral metastasis to the retina, choroids and optic nerve from breast cancer: a clinicopathological case.
A 39-year-old Asian woman, with a known history of breast cancer, presented with a gradual onset of painless reduction in vision in both eyes. Examination revealed visual acuity of counting fingers in the right eye and light perception in the left. There were subretinal lesions in the posterior poles of both eyes and retinal detachment in the left eye. Later she developed left proptosis and restriction in left ocular movement, most likely to be caused by metastatic extraocular spread. She subsequently died from disseminated metastatic disease. Histopathological examination confirmed tumor cells infiltrating the choroids, retina and optic nerve in both eyes. The tumor cells were arranged in lobular fashion and stained positively with Periodic Acid Schiff, suggesting the primary to be lobular adenocarcinoma type. Choroidal metastatic disease is common but bilateral retinal and optic nerve involvement with extraocular spread from breast cancer is rare.
Adult↗
[An optic nerve tumor in von Hippel-Lindau disease, masquerading as a retinal hemangioma].
CLINICAL CASE: A 35-year-old man with a family history of von Hippel-Lindau disease was diagnosed to have two retinal hemangiomas in the right eye and another in the left eye. The hemangiomas were treated with cryotherapy and laser photocoagulation respectively. Despite apparent good resolution of the retinal lesions, progressive visual loss was observed. An MRI was then performed and showed bilateral tumoral lesions of the optic nerve compatible with a glioma, meningioma or hemangioblastoma. Currently the visual acuity in his right eye is hand movement, and is 0.6 in the left eye. DISCUSSION: The presence of the retinal hemangiomas delayed the diagnosis of an optic nerve tumor in this patient.
Adult↗
Orbital cavernous hemangioma associated with juxtapapillary exophytic retinal capillary hemangioma.
A 32-year-old man presented with coexisting orbital hemangioma and juxtapapillary exophytic capillary hemangioma. Fluorescein and indocyanine green angiography revealed exophytic juxtapapillary retinal capillary hemangioma. The orbital cavernous hemangioma was surgically removed, and the retinal capillary hemangioma was observed without treatment. Subretinal hemorrhage gradually absorbed and clinical symptoms improved. Juxtapapillary exophytic capillary hemangioma can cause subretinal bleeding secondary to external pressure from an adjacent orbital cavernous hemangioma. Coexistence of both tumors suggests a common etiology.
Adult↗
Molecular pathology of eyes with von Hippel-Lindau (VHL) Disease: a review.
BACKGROUND: von Hippel-Lindau Disease (VHL) is an autosomal dominant inherited systemic cancer syndrome. Recently, many advances have contributed to the understanding of VHL pathophysiology. METHODS: In this article we review recent developments and summarize our findings in VHL molecular pathology related to retinal and optic nerve diseases. RESULTS: Loss of heterozygosity (LOH) within the VHL gene is detected in the stromal cells surrounding the capillary endothelial cells and admixed with glial cells in ocular hemangioblastomas. This finding is in line with similar findings in VHL-associated CNS hemangioblastoma and renal clear cell carcinomas. Increases of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas.Interestingly, tumorlet cells, which are composed of poorly differentiated small cells with prominent dark nuclei and little cytoplasm, as well as several stem cell markers, such as erythropoietin (Epo), Epo receptor (EpoR), and CD133, are present in ocular VHL lesions. CXCR4, a CXC chemokine receptor is also expressed in retinal VHL hemangioblastomas. CONCLUSIONS: These findings imply that VHL cells with LOH of the tumor suppressor gene, most likely originate from a hematopoietic/vascular lineage. Targeting these proteins and ischemic factors, not VEGF alone, may be a potential therapeutic approach for VHL-associated ocular hemangioblastomas.
Genes, Tumor Suppressor↗
Posterior pole tumor update.
This chapter focuses on the diagnosis and management of choroidal melanoma in light of recent findings from the COMS. Retinoblastoma is emphasized to describe recent trends in primary treatment away from EBRT and toward chemoreduction with local therapy. In addition, vascular and glial tumors of the retina and tumors of the retinal pigment epithelium are described because of the association between these lesions and systemic disease. Recent advances in treatment and genetic testing for these diseases are discussed. Finally, ocular metastasis, intraocular lymphoid tumors, and intraocular leukemia are included because of their importance in determining systemic treatment and prognosis. The chapter gives an overview of important posterior pole tumors and highlights recent developments in the management of each intraocular disease process.
Choroid Neoplasms↗
[Optic nerve pilocytic astrocytoma with retinal involvement].
INTRODUCTION: This is an atypical case of a pilocytic astrocytoma that involved the optic nerve (ON) and the retina. CLINICAL CASE: The patient was a 30-year-old male, who had attended ONCE since his early childhood because of the suspicion of an intraocular tumor. The ophthalmology exploration showed an ON and retinal coloboma in the right eye and microphthalmy, shutting of the pupil, retinal detachment and proof of an intraocular tumor in the left eye. The MR revealed an ON tumor that involved the retina. The histopathological study after enucleation was pilocytic astrocytoma. DISCUSSION: Long standing congenital pathology in a blind patient does not exclude the possibility of the patient suffering from other pathology as well.
Adult↗
Antineoplastic effect and toxicity of 1,25-dihydroxy-16-ene-23-yne-vitamin D3 in athymic mice with Y-79 human retinoblastoma tumors.
OBJECTIVES: To evaluate the in vivo efficacy and toxicity of the 1,25-dihydroxy-16-ene-23-yne-vitamin D3 (16,23-D3) analogue in athymic nude mice injected with Y-79 human retinoblastoma cells and to compare the efficacy and toxicity of this compound with those of 1,25-dihydroxycholecalciferol (D3, calcitriol). METHODS: Thirty athymic nude mice (4-6 weeks old) were injected subcutaneously with 1 x 10(7) Y-79 human retinoblastoma cells suspended in a 1:1 mixture of Iscove culture medium supplemented with 20% fetal bovine serum and basement membrane matrix suspension. Five days after tumor injection, the mice were randomized to 3 groups of 10 mice each. The first group served as a control group and received intraperitoneal injections of 0.25 mL of mineral oil (vehicle) 5 times a week. The second group received intraperitoneal injections of 0.05 microg of calcitriol in 0.25 mL of mineral oil intraperitoneally 5 times a week. The third group received intraperitoneal injections of 0.5 microg of 16,23-D3 in 0.25 mL of mineral oil 5 times a week. Injections were continued for 5 weeks, during which tumor size and mouse weight were individually measured. Toxicity was assessed by clinical measures such as lethargy, weight loss, and death. The mice were then killed and the size, volume, and weight of each tumor were determined. Also, in representative animals in each group, kidneys were evaluated for calcification and serum calcium concentration was measured. RESULTS: All experimental and control animals developed tumors subcutaneously. The 16,23-D3-treated mice had significantly smaller average tumor size (1.55 cm3) than the control mice (3.45 cm3) (P = .02), less gain in average body weight from the beginning of treatment (2.4 g vs 5.5 g) (P= .06), and a 40% mortality. The calcitriol-treated mice did not have significantly smaller average tumor size (1.26 cm3) than the 16,23-D3-treated mice (P = .35), had significant body weight loss compared with the control animals (calcitriol-treated mice lost 4.03 g) (P =.001), and had a mortality of 90% by the completion of the experiment. Histologically, there was no difference in the degree of tumor necrosis and calcification between control and experimental mice. Serum calcium concentrations were equivalent between the control (2.15 mmol/L [8.6 mg/dL]) and experimental groups (calcitriol, 1.88 mmol/L [7.5 mg/dL] [P = .97]; 16,23-D3, 2.15 mmol/L [8.6 mg/dL] [P = .42]). Mild bilateral renal tubular calcification occurred in 3 of 4 mice in the calcitriol-treated group and in 2 of 4 mice in the 16,23-D3-treated group. CONCLUSIONS: The growth of subcutaneous Y-79 human retinoblastoma cells in athymic nude mice is significantly reduced by treatment with intraperitoneal injections of 16,23-D3. The antineoplastic effect of calcitriol is not statistically significantly different but is associated with significantly more toxicity. 1,25-Dihydroxy-16-ene-23-yne-vitamin D3 may be a useful chemotherapeutic adjunct in the treatment of retinoblastoma.
Animals↗
Postenucleation adjuvant therapy in high-risk retinoblastoma.
PURPOSE: The main purpose of this study was to determine the efficacy of postenucleation adjuvant therapy in preventing metastasis in cases of high-risk retinoblastoma. METHODS: This was a retrospective, nonrandomized comparative study. Of 1020 consecutive patients with retinoblastoma had were managed at a referral center between January 1974 and December 1999, 80 (8%) of those analyzed had unilateral sporadic cases that were treated by primary enucleation and that had high-risk characteristics for metastasis on histopathology reports (anterior chamber seeding, iris infiltration, ciliary body infiltration, massive choroidal infiltration, invasion of optic nerve lamina cribrosa, retrolaminar optic nerve invasion, invasion of optic nerve transection, scleral infiltration, and extrascleral extension). The main outcome measure was the development of metastasis at a minimum follow-up period of 12 months. RESULTS: There were 44 male and 36 female patients, with age ranging from 1 day to 16 years (median, 33 months). A single histopathologic high-risk characteristic was present in 50 patients (62.5%). Thirty patients (37.5%) manifested 2 or more high-risk characteristics. Forty-six patients (58%) had received postenucleation adjuvant therapy (chemotherapy with or without orbital external beam radiotherapy). Adjuvant therapy was not administered in 34 patients (42%). Metastasis occurred in 10 patients (13%) at a median of 9 months (range, 6-57 months) following enucleation. Eight (80%) of those who developed metastasis had not received adjuvant therapy. A significant difference (P =.02) was found in the incidence of metastasis between the group that had received adjuvant therapy (4%; 2/46) and the group that had not (24%; 8/34). The beneficial effect of adjuvant therapy was statistically significant in subgroups of patients with massive choroidal infiltration (P =.04) or retrolaminar optic nerve invasion (P =.04). There were no adjuvant therapy-related serious systemic complications. CONCLUSION: Postenucleation adjuvant therapy is safe and effective in significantly reducing the occurrence of metastasis in patients with retinoblastoma manifesting histopathologic high-risk characteristics.
Adolescent↗
Chemoreduction for retinoblastoma.
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Antineoplastic Combined Chemotherapy Protocols↗
Primary and secondary osteosarcoma of the face: a rare childhood malignancy.
BACKGROUND: Osteosarcoma of the head and neck, especially primary forms, remains a rare and highly malignant tumor. PATIENTS: This report describes two patients who developed an osteosarcoma of the face more than ten years after treatment for bilateral retinoblastoma. We also report a third patient who presented with a primary osteosarcoma of the right superior maxilla which is one of the rarest tumors encountered in childhood oncology. CONCLUSIONS: The mainstay of therapy is surgical resection with negative margins. Careful, long-term follow-up of survivors of hereditary retinoblastoma is essential, especially for those given radiation therapy.
Adolescent↗
Major histocompatibility antigens and antigen-processing molecules in retinoblastoma.
BACKGROUND: Malignant transformation of cells is frequently associated with abnormalities in human leukocyte antigen (HLA) expression. These abnormalities may play a role in the clinical course of the disease, because HLAs mediate interactions of tumor cells with cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Retinoblastoma is the most common intraocular malignant tumor in childhood and is characterized by direct spread to the optic nerve and orbit as well as hematogeneous and lymphatic spread. Little is known about the role of HLA expression in the progression of this malignant disease. METHODS: HLA Class I antigen, beta2-microglobulin (beta2-m), HLA Class II antigens, and the antigen-processing molecules (APMs) of the HLA Class I pathway, including proteasomal subunits (low-molecular mass polypeptide 2 [LMP-2] and LMP-10), the transporter-associated protein (TAP-1) subunit, the binding protein tapasin, and the chaperone molecule calnexin, were studied in 30 archival retinoblastoma specimens by immunohistochemistry. Immunoanalysis was performed based on the International Histocompatibility Working Group Project Description. RESULTS: HLA Class I antigen, beta2-m, HLA Class II antigen, and APMs were positive in 12 tumors with no invasion and were decreased in 13 tumors with choroidal and optic nerve invasion. The difference in HLA and APM expression between the 2 groups was statistically significant (P < 0.001). CONCLUSIONS: Decreased expression of HLA was observed in aggressive tumors and in poorly differentiated tumors. The current findings support a role for both CTLs and NK cell-mediated control of tumor growth in the clinical course of retinoblastoma.
Biomarkers, Tumor↗
Long-term survival in osteosarcoma patients following retinoblastoma using doxorubicin, cisplatin, and methotrexate.
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Antineoplastic Combined Chemotherapy Protocols↗
Expression of survivin, an inhibitor of apoptosis protein, in tumors of the nervous system.
Survivin is an inhibitor of apoptosis protein that blocks apoptosis by binding to caspases-3 and -7. It is highly expressed in less-differentiated embryonic cells and rapidly dividing tumors, but not in terminally differentiated adult tissues. Elevated survivin levels are found in malignant systemic tumors, and are associated with chemo-resistance, radiation resistance, and poor prognosis. However, expression of survivin in primary nervous system tumors has not been previously characterized. Immunohistochemistry using anti-human survivin antibody (SURV11-A) was performed on formalin-fixed, paraffin-embedded archival tissue from 112 primary central nervous system tumors. Survivin immunoreactivity was seen in most diffuse astrocytomas [WHO II (2/4), III (3/3), IV (9/10), giant-cell glioblastoma (1), and gliosarcoma (1)]. The intensity and degree of survivin expression showed trends with tumor grade, with glioblastomas having the highest positivity. Pilocytic astrocytomas (5) and pleomorphic xanthoastrocytoma (1) were positive to a lesser degree. In oligodendrogliomas (6) and mixed oligo-astrocytomas [grade II (5), II-III (3), and III (7)], oligodendroglial elements appear to be negative compared to positive mini-gemistocytic oligodendrocytes. Ependymomas [grade II (6) and grade III (1)] were positive. Medulloblastomas (5) and retinoblastoma (1/4) showed focal positivity. All meningiomas [grade I (12), II (9), III (4), and grade I (3) and II (5) with frank brain invasion] were intensely positive. All schwannomas (11) and neurofibromas (6) were intensely positive. Thus, survivin is expressed in the majority of the primary nervous system tumors, particularly in glioblastomas, meningiomas, schwannomas and neurofibromas. Overexpression of survivin in meningiomas and benign peripheral nerve sheath tumors contrasts with previous reports relating it to rapid division and poor prognosis.
Astrocytoma↗
Systemic chemotherapy as a new conservative treatment for intraocular retinoblastoma.
Retinoblastoma is the most common malignant intraocular tumor in childhood. With advances in the methods for early detection of this disease, the survival rate is over 90% in developed countries. The management of intraocular retinoblastoma has gradually changed over the past few decades. Every effort has been made to save life, with the preservation of the eye and sight, if possible. External beam radiotherapy has been a standard treatment for medium and large, or visually threatening, intraocular retinoblastoma, but it markedly increases the risk of cosmetic deformities and secondary cancer in children with germline RB mutations. For the past decade, primary systemic chemotherapy called "chemoreduction" has been employed to avoid radiotherapy and enucleation. This article gives an overview of the results of current trials of primary chemoreduction for intraocular retinoblastoma, and discusses its role and its limitations in conservative treatment. The article also discusses future directions to expand the indications for this treatment. Many children with advanced intraocular retinoblastoma could be spared external beam radiotherapy and enucleation, mostly as a result of chemoreduction and focal methods. Chemoreduction combined with focal treatments will continue to play an important role in the conservative management of children with intraocular retinoblastoma, possibly even in children with advanced disease, with the combined use of multidrug-resistance modulators.
Antineoplastic Agents↗
Transpupillary thermotherapy as initial treatment for small intraocular retinoblastoma: technique and predictors of success.
OBJECTIVE: To determine which small retinoblastoma tumors can be treated with transpupillary thermotherapy (TTT) alone and to clarify the minimum amount of treatment required to prevent recurrence. DESIGN: Noncomparative interventional case series. PARTICIPANTS: Ninety-one tumors in 22 eyes of 24 patients were treated with TTT as the primary treatment modality at a single institution from 1995 until 2002. METHODS: Transpupillary thermotherapy was applied only when a tumor first appeared or if growth subsequently occurred. Treatment was performed while patients were under general anesthesia with the Iris diode laser (810 nm) on continuous mode with a 1.2-mm spot size. MAIN OUTCOME MEASURES: Local tumor recurrence, failure of TTT requiring the use of salvage therapies. RESULTS: Mean age at diagnosis was 3 months (range, 0-19 months), and mean initial tumor base was 0.67 disc diameters (DD) (range, 0.1-1.5). Eighty-four tumors (92%) were cured with TTT alone. Seven tumors (8%) required between 1 and 5 salvage treatments: 4 tumors received cryotherapy, 3 tumors received systemic chemotherapy, 2 tumors received external beam radiation, and 1 tumor received periocular chemotherapy. All 7 tumors requiring salvage treatment were cured without enucleation. Twenty-one eyes were preserved (95%), with 1 eye enucleated secondary to growth of other tumors. The mean number of treatment sessions required for cure was 1.7 (median, 1 session, range 1-6), with 64% of the tumors requiring only 1 session. The mean power was 420 mW, the mean total duration for all sessions was 320 seconds, and the mean total energy for all treatments was 139.6 J. Univariate analysis revealed that predictors of tumor recurrence were male gender, increasing age at diagnosis, posterior and inferior tumor location, increasing initial tumor base diameter, and increasing total energy. Multivariate analysis indicated that the predictive combination of variables included male gender, increasing age at diagnosis, and increasing total energy. The predictors of need for salvage treatment on univariate analysis were male gender, inferior tumor location, increasing initial tumor base diameter, and increasing total energy. Multivariate analysis demonstrated that the most important combination of variables was male gender and increasing total energy. CONCLUSIONS: Retinoblastoma tumors <1.5 DD in base diameter can be successfully treated with TTT alone. Treatment can be implemented only when recurrences occur and can be used at low power settings for a short duration.
Female↗
Second primary tumors in hereditary retinoblastoma: a register-based study, 1945-1997: is there an age effect on radiation-related risk?
OBJECTIVE: The aim of this study is to evaluate the influence of age at external beam irradiation (EBRT) on the occurrence of second primary tumors (SPTs) inside and outside the irradiation field in hereditary retinoblastoma patients. DESIGN: Cross-sectional study. PARTICIPANTS: The study included 263 hereditary retinoblastoma patients born in The Netherlands between 1945 and 1997. METHODS: A national register-based follow-up cohort study was performed on hereditary retinoblastoma patients. Information on therapy, age at irradiation, and location of SPT was obtained from the register. The Kaplan-Meier method calculated cumulative incidences of SPT in three subgroups: irradiation before (early EBRT) and after 12 months of age (late EBRT), and no irradiation. The Mantel-Cox method determined the statistical significance of differences between the cumulative incidence curves. MAIN OUTCOME MEASURES: Development of SPT inside and outside a precisely defined irradiation field in relation to age at irradiation. Our definition excluded pineoblastoma as SPT, because they constitute part of a trilateral retinoblastoma; in addition, they lie outside the field of irradiation. RESULTS: The cumulative incidence of SPT at the age of 25 years was 22% (95% confidence intervals 13%-34%) in the early EBRT group, 3% (0%-14%) in the late EBRT group, and 5% (1%-16%) in the nonirradiated group (Mantel-Cox overall: P = 0.001; between early and late EBRT, P = 0.04). However, in early irradiated patients, the incidence of SPTs inside and outside the irradiation field was similar (11%), and the difference between early and late EBRT in incidence of SPT inside the field of irradiation was less prominent than overall (11% vs. 3%: P = 0.37). Sensitivity analysis showed the results depended on the way SPT, irradiation field, and, especially, pineoblastomas are defined. CONCLUSIONS: Hereditary retinoblastoma confers an increased risk for the development of SPT, especially in patients treated with EBRT before the age of 12 months. However, the presence of similar numbers of SPTs inside and outside the irradiation field suggests that irradiation is not the cause. In other words, this study does not show an age effect on radiation-related risk. Rather, early EBRT is probably a marker for other risk factors of SPT.
Adolescent↗