Cases reported "Retinal Neoplasms"

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1/29. Treatment of paraneoplastic visual loss with intravenous immunoglobulin: report of 3 cases.

    BACKGROUND: Paraneoplastic visual loss is an autoimmune disorder believed to be caused by the remote effects of cancer on the retina (cancer-associated retinopathy [CAR]) or optic nerve. Both disorders may result in rapid and complete blindness. Spontaneous recovery of vision has not been reported. The serum of patients with CAR contains autoantibodies against recoverin, enolase, or unidentified retinal proteins. autopsy examination results of eyes of blind patients with CAR show complete absence of the retinal neurons involved in phototransduction. Corticosteroids and plasmapheresis are the only treatment options previously described. OBJECTIVE: To treat paraneoplastic visual loss. DESIGN AND methods: Three patients with metastatic cancer developed rapidly progressive loss of vision. The first patient had visual acuity of hand movements in each eye before intravenous immunoglobulin treatment. The second patient had visual acuity of light perception in both eyes. The third patient's visual acuity was 20/400 OD and 20/20 OS. Diagnostic tests included magnetic resonance imaging of the head and cytologic examination of the cerebrospinal fluid to exclude metastasis as the cause of visual loss and then an electroretinogram and serum tests for autoantibodies against retinal antigens to confirm the clinical diagnosis of CAR. patients 1 and 2 were treated with intravenous immunoglobulin (400 mg/kg per day) for 5 days; however, patient 3 received only a single dose due to adverse effects consisting of shortness of breath and itching. RESULTS: Within 24 hours of taking the first dose of intravenous immunoglobulin, the visual acuity of patient 1 improved from hand movements only in both eyes to 20/50 OD and 20/200 OS. After the third day of treatment, visual acuity in the left eye further improved to 20/40. Even with the improved acuity, Goldmann visual field perimetry results showed poor responses in both eyes. However, 2 weeks later there was marked visual field improvement, and visual acuity was maintained at 20/50 OD and 20/40 OS. Patient 2 had no improvements and continued to have light perception in both eyes. Patient 3 had improvements in visual field defects but remained 20/400 OD and 20/20 OS. CONCLUSION: Intravenous immunoglobulin may be another treatment option offered to patients with paraneoplastic visual loss in addition to corticosteroids or plasmapheresis because a review of the medical literature has shown no spontaneous improvements of visual function without treatment.
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ranking = 1
keywords = cancer
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2/29. Trilateral retinoblastoma with an RB1 deletion inherited from a carrier mother: a case report.

    A presentation of intracranial tumor in bilateral and unilateral retinoblastoma with or without family history is termed as trilateral retinoblastoma (TRB). It always occurs either as a pineal tumor or supra/parasellar tumor, which differ in presentation and prognosis. We report here the first case of TRB with transmission of retinoblastoma gene (RB1) deletion from an unaffected mother (a carrier), presenting as concurrent intracranial neoplasm with bilateral retinoblastoma. The presence of RB1 mutation in both child and mother could be responsible for development of intracranial neoplasm which occurred simultaneously with bilateral RB in our patient. Our patient, who had a suprasellar mass, received radiation and intrathecal chemotherapy, and died 6 months after diagnosis. The occurrence of intracranial tumor in an asymptomatic stage can be avoided by routine computed tomography (CT) and magnetic resonance imaging (MRI) scan, and improved survival can be achieved by aggressive multimodality therapy.
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ranking = 14.915836796953
keywords = neoplasm
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3/29. Multifocal osteosarcoma following retinoblastoma.

    Three survivors of retinoblastoma, one with hereditary bilateral and two with nonhereditary (spontaneous) unilateral disease, developed multifocal osteosarcoma. For one patient, unilateral retinoblastoma was followed by primitive neuroepithelioma at age 13 years. Multifocal chondroblastic osteosarcoma represented the patient's third malignant neoplasm. The course of multifocal osteosarcoma in these three patients compares to that of multifocal osteosarcoma which presents de novo in other patients without prior retinoblastoma.
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ranking = 7.4579183984767
keywords = neoplasm
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4/29. Primary intraocular lymphoma with a low interleukin 10 to interleukin 6 ratio and heterogeneous IgH gene rearrangement.

    Primary intraocular lymphoma is almost always a central nervous system B-cell non-Hodgkin lymphoma. Primary intraocular lymphoma is commonly diagnosed by demonstrating lymphoma cells in the vitreous or cerebrospinal fluid. An interleukin (IL) 10 to IL-6 ratio greater than 1.0 in these fluids and the detection of immunoglobulin gene rearrangement are useful adjuncts in the diagnosis of primary intraocular lymphoma. We report a case of primary intraocular lymphoma diagnosed by chorioretinal biopsy in which no malignant cells were identified in the vitreous and in which the IL-10 to IL-6 ratio was less than 1.0. The detection of IgH gene rearrangement heterogeneity in the tumor cells by polymerase chain reaction, a high tumor mitotic figure rate, and the rapid onset of multiple brain lesions suggest an aggressive malignant neoplasm.
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ranking = 7.4579183984767
keywords = neoplasm
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5/29. Clinical and immunocytochemical findings in a case of melanoma-associated retinopathy.

    OBJECTIVE: To describe an unusual case of melanoma-associated retinopathy (MAR). DESIGN: Retrospective, observational case report and experimental study. PARTICIPANTS: A 61-year-old man with a history of cutaneous melanoma, acquired bilateral central scotomas, and night blindness. INTERVENTION: Serial full-field electroretinography (ERG) and Goldmann perimetry were performed. serum was screened for cancer-associated retinopathy (CAR) antibodies by Western blotting. Sections of human and rat retina were examined by immunofluorescence microscopy to determine whether retinal cells were reactive with this patient's serum. A metastatic workup was performed. MAIN OUTCOME MEASURES: electroretinography, Goldmann visual field testing, and immunocytochemistry were performed. RESULTS: The results were as follows: (1) The ERG showed a profound loss of the b-wave amplitude and a "negative" b-wave characteristic of congenital stationary night blindness; (2) a central scotoma and peripheral constriction were identified on Goldmann visual field tests; (3) as in other patients with MAR, bipolar cells in human and rat retinas were immunolabeled with this patient's serum; and (4) a previously unsuspected focus of metastatic melanoma was discovered. CONCLUSIONS: Recognition of this condition may help to identify an occult focus of metastatic melanoma.
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ranking = 0.33333333333333
keywords = cancer
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6/29. Somatic mosaicism in von hippel-lindau disease.

    von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.
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ranking = 0.66666666666667
keywords = cancer
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7/29. Retinal abnormalities associated with a mutation of the nucleotide 683 in von hippel-lindau disease.

    BACKGROUND: von hippel-lindau disease (VHL) is a hereditary cancer syndrome in which affected individuals are at risk of developing tumors in multiple organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands and pancreas. methods: We performed a fundus examination and fluorescein and indocyanine green (ICG) angiography in both eyes of a young woman affected by VHL with bilateral pheochromocytoma, retinal angioma, retinal microaneurysms and unusual alterations of the deep retinal layers. A molecular analysis of the VHL gene was carried out. RESULTS: ophthalmoscopy disclosed in her right eye a small retinal hemangioma, some microaneurysms in both eyes at the posterior pole and multiple, small, whitish, dome-shaped lesions scattered in the retinal pigment epithelium (RPE) of the posterior retina. Fluorescein angiograms revealed in the early phase multiple hyperfluorescent spots that showed progressive discoloration in the late phase of angiography. Some of these spots were ophthalmoscopically undetectable. The late phase of ICG angiography showed some small hyperfluorescent points located at the level of the RPE, and some of them corresponded to the hyperfluorescent spots seen on fluorescein angiography. The molecular analysis revealed the presence of a "missense" mutation of the VHL gene at nucleotide 683. CONCLUSIONS: Alterations in the RPE have never been observed in the VHL syndrome. We describe an unusual case of VHL with a capillary hemangioma associated to diffuse alterations with the RPE of the posterior retina. The possibility exists that these lesions form part of the eye modifications in VHL.
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ranking = 0.33333333333333
keywords = cancer
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8/29. Hereditary cancers in children and ethical and psychosocial implications.

    This article describes the application of genetic testing of children for hereditary cancers and the resultant ethical and psychosocial implications. Basic cancer genetics concepts are reviewed. Specific hereditary cancers that may affect children are described along with case examples and recommendations for nursing practice.
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ranking = 2.3333333333333
keywords = cancer
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9/29. adenocarcinoma arising from congenital hypertrophy of retinal pigment epithelium.

    Congenital hypertrophy of the retinal pigment epithelium (CHRPE), traditionally regarded as a benign stationary condition, has recently been shown in 5 cases to give rise to an elevated, solid tumor. However, the histopathologic nature of the tumor that arises from CHRPE has not been previously determined. A 65-year-old woman developed a progressively enlarging peripheral fundus tumor that arose from a focus of classic CHRPE. The tumor produced a localized exudative retinal detachment, cystoid macular edema, and surface-wrinkling retinopathy. The mass was removed by local resection, and histopathologic examination revealed a low-grade adenocarcinoma of the retinal pigment epithelium, apparently arising from CHRPE. Although CHRPE is usually a benign nonprogressive lesion, it can give rise to a malignant tumor. Congenital hypertrophy of the retinal pigment epithelium should be observed periodically for development of a neoplasm.
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ranking = 7.4579183984767
keywords = neoplasm
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10/29. osteosarcoma following retinoblastoma: age at onset and latency period.

    In order to assess the role of genetic predisposition in the induction of radiation-induced tumors, we performed statistical analysis on data from the literature and from our own Institute with regard to the age at onset and the latency period of osteosarcoma as the second primary tumor for retinoblastoma with or without subsequent radiotherapy. In retinoblastoma survivors who subsequently developed osteosarcoma, the age at onset of retinoblastoma was young (average of 12 months) in both unilateral and bilateral forms. This suggests that all or almost all of the patients were genetically predisposed by a mutation of one allele of the RB1 gene. For retinoblastoma patients, osteosarcomas occurred 1.2 years earlier inside than outside the radiation field. The latency period between radiotherapy and osteosarcoma onset was 1.3 years shorter inside than outside the radiation field. Interestingly, a bimodal distribution of latency periods was observed for osteosarcomas arising inside, but not outside the radiation field: 40% occurred after a short latency, while the latency of the remaining 60% was comparable to that of osteosarcoma occurring outside the radiation field. This suggests that different mechanisms may be involved in radiocarcinogenesis. A radiation-induced mutation of the second RB1 allele may be the cause of osteosarcomas occurring after a short delay, while other genes may be affected in those occurring after a longer delay.
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ranking = 214.81351501487
keywords = radiation-induced
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