1/11. Trilateral retinoblastoma variant indicative of the relevance of the retinoblastoma tumor-suppressor pathway to medulloblastomas in humans.Results of recent studies have led investigators to suggest that the retinoblastoma tumor-suppressor (rb) gene plays an underappreciated role in the genesis of brain tumors. Such tumors cause significant rates of mortality in children suffering from hereditary retinoblastoma. It has been assumed that the pineal gland, which is ontogenetically related to the retina, accounts for the intracranial origin of these trilateral neoplasms. To address this issue, the authors describe an unusual trilateral retinoblastoma variant. The authors provide a detailed clinicopathological correlation by describing the case of a child with bilateral retinoblastoma who died of a medulloblastoma. The intraocular and intracranial neoplasms were characterized by performing detailed imaging, histopathological, and postmortem studies. karyotype analysis and fluorescence in situ hybridization were used to define the chromosomal defect carried by the patient and members of her family. An insertion of the q12.3q21.3 segment of chromosome 13 into chromosome 18 at band q23 was identified in members of the patient's family. This translocation was unbalanced in the proband. The intraocular and cerebellar neoplasms were found to be separate primary neoplasms. Furthermore, the pineal gland was normal and the cerebellar neoplasm arose within the vermis as a medulloblastoma. Finally, the two neoplasms had different and characteristically identifiable cytolological and immunohistochemical profiles. The findings of the present study, taken together with those of recent molecular and transgenic studies, support the emerging concept that rb inactivation is not restricted to central nervous system regions of photoreceptor lineage and that inactivation of this tumor suppressor pathway may be relevant to the determination of etiological factors leading to medulloblastoma in humans.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/11. Epstein-Barr virus-associated lymphoma in a child undergoing an autologous stem cell rescue.Epstein-Barr virus-associated lymphoproliferative disease (EBV-LPD) is a serious disorder seen in various states of immunodeficiency, often with a fatal outcome. In this article, a patient with EBV-lymphoma after autologous stem cell rescue for treatment of a nonhematologic solid tumor is described. The child, a 4-year-old boy, had unilateral retinoblastoma with metastatic spread to the central nervous system. He had previously received both local tumor bed and craniospinal radiation therapy together with intensive myeloablative alkylator chemotherapy before autologous stem cell rescue. Histologically confirmed lymphoma with evidence of active EBV proliferation developed within cervical lymph nodes 3 weeks after his first autologous stem cell rescue. A complete clinical remission of the lymphadenopathy was obtained after infusions of rituximab (an anti-CD20 monoclonal antibody), acyclovir, and high-titer anticytomegalovirus immunoglobulin. The patient died approximately 6 months later of persistent and progressive retinoblastoma without any clinical evidence of lymphoma. It is concluded that EBV-LPD should be included in the differential diagnosis in patients in whom lymphadenopathy develops after autologous stem cell rescue.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/11. retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma of the uveal tract and retina. A vascularized fluffy white mass in the posterior pole was diagnosed clinically as a retinoblastoma. The tumor regressed with radiation. When the patient was four years of age, a large tumor was found in the region of the pineal recess, causing hydrocephalus and seizures. A biopsy showed an undifferentiated malignant neuroepithelial neoplasm. The patient died within three months of diffuse central nervous system tumor. The unusual findings of a retinoblastoma in a microphthalmic eye with bilateral colobomas and a neuroepithelial neoplasm of the pineal gland are discussed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/11. Encouraging result of tamoxifen in a retinoblastoma patient with central nervous system metastasis.Extraocular retinoblastoma occurs more frequently in developing countries as a delayed diagnosis and prognosis of patients with conventional therapy is very poor. Metastatic retinoblastoma, especially in the central nervous system (CNS), is a highly lethal disease. tamoxifen has been used in some previous studies with variety of responses to therapy in patients with unresectable recurrent brain tumors. A 7-year-old girl with recurrent metastatic retinoblastoma received 60 mg/m2 tamoxifen in addition to chemotherapy and CNS radiotherapy. She was in remission until she has died in a traffic accident at week 114. The authors think that tamoxifen can be added to treatment protocols of metastatic retinoblastoma to provide longer and at least higher quality of life for these patients.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/11. retinoblastoma with spinal recurrence presenting as spinal cord compression.central nervous system (CNS) involvement is not rare in extraocular retinoblastoma, and it is not surprising to find it in view of its route of spread. However, although spinal recurrence presenting as spinal cord compression (SCC) is a form of CNS involvement, it is extremely rare. This report describes two patients with unilateral retinoblastoma with spinal recurrence presenting as SCC. The first patient developed erythematous swelling of the right foot and weakness of the bilateral lower limbs at 7 months after left enucleation. Examination revealed pitting edema of bilateral feet and muscle power of 2 to 3 , with intact sensory function. The second patient developed weakness of the bilateral lower limbs, and defecative and urinary difficulty for 2 days at 8 months after left enucleation. Examination revealed pitting edema of bilateral feet and muscle power of 2 , with defective sensory function. Both patients received surgery and local irradiation after SCC. The first patient refused chemotherapy and survived only 4 months due to disease progression. The second patient received systemic and intrathecal chemotherapy, and survived 19.5 months without disease progression. Spinal recurrence with SCC should be suspected when leg weakness or bowel or bladder disturbance occurs in patients with retinoblastoma.- - - - - - - - - - ranking = 0.21887836581449keywords = nervous system (Clic here for more details about this article) |
6/11. Malignant glioma following radiotherapy for unrelated primary tumors.Four cases are documented where a glioma was histologically verified in the irradiation field of a previously treated malignancy of a different cell line. Radiation-induced neoplasia in the central nervous system now has been established in the induction of meningioma and sarcoma. The association between therapeutic irradiation and glioma in the reported cases lends to the evidence that a causal relation does exist. This incidence is small and does not detract from the overall benefit of irradiation as a therapeutic modality.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/11. Computed tomography in the evaluation of patients with bilateral retinoblastomas.Six patients with histologically proven retinoblastomas were examined by computed tomography, two at the time of initial diagnosis and four from 2 to 30 years following treatment, which consisted of radiation therapy alone or with surgery. The spectrum of computed tomographic findings includes: calcified retinal tumor, intracranial subarachnoid spread of tumor, radiation-induced tumors (papillary adenocarcinoma and undifferentiated sarcoma) in the field of prior radiation, and second, primary central nervous system tumor, a pineoblastoma.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/11. Response of orbital and central nervous system metastases of retinoblastoma following treatment with cyclophosphamide/doxorubicin.A 3.5-year-old boy with orbital and central nervous system extension of unilateral retinoblastoma received chemotherapy consisting of intravenous cyclophosphamide and doxorubicin and intrathecal methotrexate. Complete shrinkage of orbital tumor, phthisis bulbi, and disappearance of intracranial metastases occurred following chemotherapy. Response of the intracranial tumors reflected the combined effects of cyclophosphamide and doxorubicin; the contribution of each agent could not be assessed. cerebrospinal fluid tumor cells persisted prior to delivery of craniospinal irradiation, and were detected again 6 weeks after completion of irradiation.- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/11. retinoblastoma as a possible primary intracranial tumor.A 10-month-old infant with a small, unilateral, peripheral retinal lesion also had a large, well-encapsulated, suprasellar retinoblastoma. The primary vs. the metastatic nature of the intracranial tumor is considered. It is postulated that primary intracranial tumors may arise within areas of the central nervous system embryologically related to the retina in patients with the genetic form of retinoblastoma.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/11. A 14-year-old patient with Ewing's sarcoma presenting at autopsy with multiple neurofibrillary tangles and lewy bodies in addition to hemiatrophy of the central nervous system.The autopsy findings of a 14-year-old Japanese girl with Ewing's sarcoma, who had multiple neurofibrillary tangles and lewy bodies and hemiatrophy of the central nervous system (CNS), are reported. She had retinoblastoma of her right eye 8 months after birth, which was treated with chemotherapy and irradiation (40 Gy), twice, seizures 1 year and 2 months after birth, and thereafter severe mental retardation. She showed left hemiparesis after a febrile seizure at the age of 7 years and CT disclosed the right cerebral hemiatrophy. For the last 2 years of life she suffered from Ewing's sarcoma. Extrapyramidal signs were absent. Neuropathologically, tangles consisting of paired helical filaments were distributed symmetrically in virtually all the grey matter. They were particularly numerous in the frontal cortex and substantia nigra, but sparse in the nucleus of Meynert, hippocampus, and brainstem. Several lewy bodies, which were ultrastructurally identical to those seen in Parkinson's disease, were present in the substantia nigra (more on the left than right) and locus coeruleus. Morphometrically, the number and size of substantia nigral neurons were reduced, the reduction in the latter being more marked than the former, but the melanin pigment contents and shapes of the remaining neurons appeared normal. The right cerebral hemiatrophy with contralateral cerebellar hemiatrophy may have been attributable to irradiation. Although our patient did not have parkinsonism, her features resembled those of a 28-year-old autopsy case reported by Popovich et al. [1987].- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
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