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[Early diagnosis of childhood cancer: a team responsibility].

OBJECTIVES: To call attention for necessity of the knowledge of the early symptoms of childhood cancer and for the responsibility of the parents, physicians and teachers rendering health supervision to the children and to alert that the early detection and prompt treatment is of paramount importance in achieving cures in childhood cancer. SOURCES: Literature review using Medline. SUMMARY: The diagnosis of childhood cancer is complex and many variables play an important role. Early detection and prompt therapy have the potential to reduce mortality and treatment morbidity. A better understanding of the relationship between symptoms and diagnosis is important for the development of effective public health strategies. CONCLUSIONS: There are several factors that may be associated with length of time between symptoms and diagnosis. Lag time to diagnosis depends on tumor type and age. To determine warning signs and symptoms that should alert to the possibility of malignant disease is still a challenge.

Bone Neoplasms↗

Retinoblastoma in an eye with features of Coats' disease.

A 44-month-old girl developed retinal detachment with extensive telangiectasia and "light bulb" aneurysms suggestive of Coats' disease. However, underlying and within the retina was diffuse retinoblastoma. Diffuse infiltrative retinoblastoma can manifest features of Coats' disease and could lead to diagnostic confusion.

Child, Preschool↗

Orbital leiomyosarcoma after retinoblastoma.

Patients with the inherited, bilateral form of retinoblastoma have an increased incidence of osteogenic sarcoma such that the mortality from the secondary tumor exceeds that of the initial bilateral retinoblastoma. We report a 29-year-old male survivor of bilateral retinoblastomas originally diagnosed at 8 months of age, whose treatment eventually included bilateral enucleation, bilateral orbital radiation, and systemic chemotherapy. At age 26, a tumor removed from his right maxillary sinus was diagnosed as fibroma. At age 29, he developed an inferior orbital mass that extended into the right maxillary sinus. A biopsy and comparison with the previous maxillary sinus mass revealed both lesions to be leiomyosarcoma. Both light and electron microscopy supported the diagnosis. The patient has survived treatment with orbital exenteration and maxillectomy combined with postoperative radiation to the right orbital-maxillary area. This appears to be the fourth case of leiomyosarcoma in the third decade of life in a male patient with a previously irradiated orbit after enucleation for bilateral retinoblastoma. Leiomyosarcoma appears to be another orbital tumor associated with bilateral retinoblastoma.

Adult↗

[Arteriovenous communication of the retina--case report].

In this paper I have described a rare case of typical arteriovenous communication of the retina (ACVR), also called racemose haemangioma, but with some atypical traits. A case of a young white 22-year-old woman is presented. AVCR was recognised in her left eye, II stage according to Archer's classification, therefore neither intracranial haemangioma nor vascular decompensation of retina was observed. In the standard ophthalmic examination, including automated perymetry and fluorescein angiography, the following phenomena were not seen yet or they were rarely described: pigmented muffs on some changed vessels, mainly nasal location of AVCR, parallel AVCR existed between both great and precapillar vessels and macular changes: yellowish ring surrounded the central fovea. Visual acuity of the affected eye was 1.0 and the patient did not complain about it.

Adult↗

Expression of cdc2 and p27(KIP1) phosphorylation in mitotic cells of the human retinoblastoma.

It was recently demonstrated that a lack of p27(KIP1) degradation resulted in the suppression of cdc2 activity and consequent inhibition of entry into the M-phase. The aim of this study was to examine the distribution of phosphorylated p27(KIP1) on threonine 187 (T187-phospho-p27) and cdc2 in mitotic cells of human retinoblastoma, a malignant retinal neoplasm. Several T187-phospho-p27-immunopositive cells were observed in mitotic retinoblastoma cells, but not in the normal retina. Immunoreactivity for T187-phospho-p27 was located in the prophase and metaphase of mitotic tumor cells. In contrast, tumor cells in the anaphase showed no immunoreactivity for T187-phospho-p27. Nuclear expression of cdc2 was detected in many retinoblastoma cells, including mitotic cells. The immunoreactivity in mitotic cells was located in the prophase, as well as metaphase. In contrast, anaphase cells did not show immunoreactivity. Double staining demonstrated the same localization of T187-phospho-p27 and cdc2 in mitotic cells. These results suggest that p27(KIP1) interacts with cdc2 in the M-phase of human retinoblastoma cells.

CDC2 Protein Kinase↗

[Progress of cancer stem cells of solid tumor].

Stem cells have some characteristics similar to tumor cells, and may be the origin of tumor cells. Stem cell-like subpopulation has been isolated and identified from hematopoietic system malignancies and solid tumors, and defined as cancer stem cells. Cancer stem cells play important roles in the initiation and progression of malignancies. Tumor might be a kind of diseases of stem cells, and this finding may help to understand the mechanisms of tumorigenesis and instruct clinical therapeutics.

AC133 Antigen↗

Retinal neovascularization and an angioma-like lesion after demarcation photocoagulation for rhegmatogenous retinal detachment.

Laser photocoagulation might aggravate the ischemia of an area of retinal detachment and predispose the retina to formation of neovascularization and an angioma-like lesion. We present a case of retinal neovascularization (RNV) and an angioma-like lesion occurring after demarcation photocoagulation for rhegmatogenous retinal detachment (RRD). A 20-year-old woman suffered from a retinal atrophic hole with localized shallow retinal detachment in the right eye. Laser photocoagulation was performed to wall off the area of detachment. Fifteen months later, RNV and an angioma-like lesion had developed in the previously detached retina. Treatment with demarcation photocoagulation for RRD may run a risk of formation of RNV and angioma-like lesion if the retina is not reattached.

Adult↗

Pseudoretinoblastoma in enucleated eyes of Asian patients.

INTRODUCTION: Retinoblastomas of the eye are a cause of childhood blindness and have a high rate of mortality, as well as a hereditary mode of transmission. Other conditions that mimic retinoblastomas are known as pseudoretinoblastomas, and are managed differently. Although pseudoretinoblastoma and the accuracy of retinoblastoma diagnosis have been reviewed in Caucasian patients, published studies in Asian patients are lacking. The purpose of this article is to report our experience with pseudoretinoblastomas in two major ophthalmological centres in Asia. METHODS: A case series of 28 enucleations carried out for suspected retinoblastoma at the Singapore National Eye Centre and KK Women's and Children's Hospital, Singapore, between January 1991 and December 2002, is reported. All cases were subjected to a detailed history from parents, followed by external ocular examination, slit-lamp biomicroscopy and binocular indirect ophthalmoscopy. Ancillary studies, such as B-scan ultrasonography and computed tomography, were employed as necessary to confirm the diagnosis. Histology was obtained on all cases. RESULTS: Of the 28 cases, 25 (89 percent) were found on histological analysis to be retinoblastomas. Three (11 percent) were pseudoretinoblastomas. There were two cases of Coat's disease and a case of presumed ocular toxocariasis. These three cases were described in detail. CONCLUSION: Although our sample size is small, the percentage of confirmed retinoblastomas was found to be only slightly higher than that found in western countries. Our findings are consistent with their findings that Coat's disease and presumed ocular toxocariasis are the more common causes of pseudoretinoblastoma.

Asian People↗

Functional analysis of the promoters of the human red and green visual pigment genes.

PURPOSE: To delineate cis-acting DNA elements involved in the expression of the human red and green visual pigment genes and to correlate these with transcription factor binding sites. METHODS: Assays of promoter activity were accomplished by transient transfection into WERI cells. Nested deletion and block mutagenesis were undertaken to delineate critical elements. Transcription factor binding sites were determined by DNase I footprinting and electrophoretic mobility shift (EMSA) analyses. RESULTS: The human retinoblastoma cell line WERI, but not Y-79, was found to express the red and green pigment genes. Transfection assays in WERI cells revealed that the proximal region of the red pigment gene promoter had positive (-130 to -113 and -96 to -23) and negative (-190 to -130 and - 113 to -96) regulatory elements. The green pigment gene promoter was found to be 2 to 4 times more active than was that of the red pigment. This difference in activity was attributable mainly to a T to C substitution at position -3. DNase I protection and EMSA studies demonstrated the binding of several ubiquitous and WERI-enriched proteins to DNA sequences between - 130 and the TATA box. The locus control region (LCR) did not have any enhancer activity in transient transfection. CONCLUSIONS: The WERI cell line is a good model system for the analysis of gene expression of the human cone visual pigment genes. The expression of these genes in a cell-specific fashion seems to be controlled mainly by positive-acting elements in the region between - 130 and the TATA box. The higher activity of the green pigment gene promoter could have evolved to compensate for its longer distance from the activating LCR than that of the red pigment gene promoter (approximately 34 versus 3.5 kb). Although the LCR does not enhance transcription in transient transfection, it binds factors that also recognize the proximal promoter region. These interactions may be important for the establishment of a transcriptionally active domain in a chromatin context.

Base Sequence↗

Macular hole with retinal pigment epithelium hyperplasia simulating neoplasm.

A case in which a retinal pigment epithelium migration through a stage IV macular hole onto the retinal surface simulated a retinal pigment epithelium neoplasm is described. A 69-year-old woman presented with a hyperpigmented membranous retinal surface growth temporal to a stage IV macular hole in the left eye. Clinical examination and optical coherence tomography were performed prior to pars plana vitrectomy with membrane peeling. Histopathologic processing revealed melanosomes and retinal pigment epithelium with no evidence of neoplastic cells. Retinal pigment epithelium migration can occur through a full-thickness macular hole onto the retinal surface, simulating a retinal pigment epithelium neoplasm. It may be a poor prognostic indicator for visual success.

Aged↗

Chorio-retinal resection of a neoplasm from the human eye.

An epithelioma was removed from the iris and ciliary body of a six-year-old girl by a partial irido-cyclectomy. Three months later recurrence of the tumour was seen in the equatorial zone of the fundus. Three weeks after application of transscleral cryotherapy around the neoplasm, a chorio-retinal resection of the tumour area in the fundus was performed. The postoperative healing was satisfactory. Re-examination 16 months later revealed a healthy eye. The results indicate that a circumscribed tumour can successfully be resected from the fundus.

Child↗