SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Patients with a nongenetic form of retinoblastoma are not particularly at high risk of developing second malignant neoplasms. We report here a case of treatment-related leukemia (secondary leukemia) with acquired monosomy 7, in a child with unilateral retinoblastoma.
Retinoblastoma is the most common intraocular malignancy of childhood. It may rarely present with white spots on the iris and pseudohypopyon. We report a case of an 11-month old child with polydactyly with this presentation of retinoblastoma. There was no positive family history of the disease. Investigations included anterior segment examination under anaesthesia, fundoscopy with scleral indentation, A- and B-scan ultrasound and MRI examination of the head. This was a Reese Ellsworth group 5 retinoblastoma with an indication for enucleation. Pathology reports of the enucleated globe showed choroidal and ciliary body invasion. Therefore, subsequent chemotherapy treatment was undertaken. The retinoblastoma gene is located in the long arm of chromosome 13. Almost all familial and bilateral cases carry the abnormal gene. In unilateral isolated retinoblastomas--as in our case--most patients do not have a germinal mutation, however, only DNA analysis can safely exclude that. We also discuss possible factors having a link to both polydactyly and retinoblastoma.
Angiogenesis, the development of new blood vessels from pre-existing vessels, represents a fundamental step in tumor progression and metastatization. The induction of vasculature is required for growth of the tumor mass, to ensure an adequate supply of oxygen and metabolites to the tumor beyond a critical size. Tumor angiogenesis is a highly regulated process that is controlled physiologically by the tumor microenvironment and genetically by alteration of several oncogenes or tumor suppressor genes. We will focus on recent demonstrations regarding the involvement of the retinoblastoma family proteins (phosphorylated retinoblastoma (pRb), p107 and pRb2/p130) at different levels of the angiogenic process. pRb and its homologs can regulate the expression of pro- and antiangiogenic factors, such as the vascular endothelial growth factor, through an E2F-dependent mechanism. Moreover, pRb is able to modulate also the transcriptional activity of several angiogenesis-related factors like HIF-1, Id2 and Oct-1. pRb2/p130 is required for both differentiation and mobilization of bone marrow-derived endothelial cell precursors and endothelial sprouting from neighboring vessels. The involvement of the pRb pathway in the angiogenesis process has also been demonstrated by different cellular models expressing viral oncoproteins, like human papilloma virus. Moreover, some natural and synthetic compounds demonstrate their antiangiogenetic activity with a mechanism of action involving pRb. Finally, the possible prognostic value of immunohistochemical evaluation of pRb and/or pRb2/p130 expression can represent a useful tool for the characterization of the angiogenic phenotype of specific tumor histotypes.
The case is presented of metastatic carcinoma to the retina in a 63-year-old woman with known disseminated large bowel carcinoma. The clinical appearance and angiographic features are discussed.
PURPOSE: To remind of the absolute necessity for early diagnosis in the presence of ocular signs in children giving rise to possible intraocular tumours. METHOD: Based on our own experience of intraocular tumours in children, together with findings from the literature, diagnostic criteria and methods of treatment are presented. RESULTS: Retinoblastoma is the predominant cause of intraocular tumours in children, representing over 80% of cases under the age of 15 years. Other diseases may give rise to the same initial signs, usually leukocoria, sometimes strabismus, more rarely other atypical signs. Elements taken into account for diagnosis include age, sex, laterality, heredity, size of the globe, clinical aspect of the tumours, presence of calcifications and vitreous seeding. Full fundus examination under general anaesthetic is usually necessary. Biological examination, ultrasonography, computerized tomography and MRI enable an accurate diagnosis to be made in the majority of doubtful cases. The management of retinoblastoma is adapted for each individual case from the wide range of treatments available. Enucleation, radioactive applicators (...), brachytherapy (...), cryo- and photocoagulation represent classical measures. Primary chemotherapy, combined with other treatments such as thermotherapy, has become the treatment of choice in those cases where external beam radiotherapy has been used up to now, or in some instances before enucleation. Enucleation is usually carried out for medullo-epitheliomas, but brachytherapy may offer an alternative. CONCLUSION: Any unexplained ocular sign in children should be considered as a possible retinoblastoma, making an accurate and certain diagnosis imperative. Early treatment may save not only the life but also the vision of patients carrying this highly malignant lesion.
PURPOSE: The loss of Fas is believed to enhance metastatic spread in diverse human tumors. We studied the expression of Fas by immunohistochemistry in retinoblastomas and correlated the results clinicopathologically. METHODS: Archival specimens of 76 retinoblastomas were included in this study. The tumors were divided into three groups: Group A (n = 21) comprising tumors with no invasion; Group B (n = 46) tumors with invasion of choroid (diffuse), optic nerve (post-laminar), and orbit; and Group C (n = 9) tumors with both invasion and metastasis. Sections were immunostained with monoclonal antibody CD95 (APO-1/Fas) and the immunoreactivity was assessed. RESULTS: Negative immunoreactivity of Fas was observed in Group B and Group C tumors (p < 0.001). Poorly differentiated retinoblastomas showed a decreased Fas expression (p = 0.006). CONCLUSIONS: Decreased expression of Fas is seen in aggressive tumors and tumors that are poorly differentiated. This preliminary observation deserves further investigation, which may then shed more light on the immune escape mechanisms of this tumor and thus enable novel therapeutic strategies.
AIM: To evaluate the frequency of the co-occurrence of a retinoma and another primary tumor. METHOD: Presentation of a case report and review of the literature. RESULTS: A cutaneous melanoma was observed in a 52-year-old man, who was known to have two retinomas in the right eye. Five other cases were found in a review of the literature, suggesting the possibility of an increased risk of developing a second primary tumor in patients with retinoma. The occurrence of cutaneous melanoma as a second primary tumor after retinoma and/or retinoblastoma is discussed. CONCLUSION: There might be an increased risk for patients with retinoma to develop another primary tumor, necessitating regular follow-up of these patients.
Explore the source record for details and available documents.
We reviewed six cases of rhabdomyosarcoma as a rare second primary malignancy in children with bilateral retinoblastoma after irradiation treatment. The patients comprised four females and two males (age range 1 year 4 months-7 years 11 months). Second tumors arose in the temporal muscle inside or close to the previously irradiated fields. All the children were alive and well 24-72 months after diagnosis. Microscopic examination showed proliferation of closely packed, small round cells with scanty cytoplasm, coarse nuclear chromatin, and increased mitotic activity without a myxoid background nor obvious alveolar architecture. The most characteristic feature was the presence of rosette-like structures in four tumors. Immunoreactivity for many skeletal muscle markers was evident, including desmin (six of six), muscle-specific actin (HHF35) (six of six), sarcomeric actin (six of six), myogenin (six of six), vimentin (six of six), and myoglobin (three of six). On reverse transcriptase-polymerase chain reaction examination, three second tumors lacked specific chimeric transcripts for alveolar rhabdomyosarcoma and Ewing's sarcoma. Unexpectedly, variable reactivity for neurofilament (150 kd) was identified in six of six second tumors as well as 15 of 20 sporadic primary rhabdomyosarcomas (75%) examined as controls, the result being confirmed by Western blot analysis. In addition, staining for retinoblastoma-susceptibility gene protein was negative in all second tumors, in contrast to positivity in 14 of 17 sporadic primary tumors (82%). This finding suggests that retinoblastoma-susceptibility gene abnormalities could be associated with the development of second primary rhabdomyosarcoma. We consider that knowledge of the occurrence of rhabdomyosarcoma and appropriate immunohistochemical study are helpful for avoiding a misdiagnosis of recurrent retinoblastoma or Ewing's sarcoma when encountering patients with a history of bilateral retinoblastoma who developed second small round cell neoplasms.
Explore the source record for details and available documents.
We report a case of a patient with the triad of retinoblastoma, dysplastic naevus syndrome (DNS) and multiple cutaneous melanomas. The combination of retinoblastoma and DNS is a significant risk factor for the development of cutaneous melanoma. This risk extends to family members. We recommend that survivors of (inherited) retinoblastoma and their relatives are closely screened for the presence of dysplastic naevi.
The objective of this study was to assess the role of various clinical and treatment factors involved in the long-term incidence of nonocular second primary tumors following retinoblastoma. The study was based on 111 patients treated between 1963 and 1977 according to the same radiotherapy protocol (electron beam radiotherapy) alone or in combination with triethylene melamine (TEM). Various statistical methods were used to obtain the actuarial survival curve, the cumulative incidence of second primary tumors, and comparisons of patient groups and subgroups. The 5-, 10-, 20-, and 30-year survival rates were 75%, 70%, 63%, and 55% with a follow-up of 23 to 35 years. The study reports the various parameters concerning 111 children and 17 second primary tumors: sex, age at treatment, histology of the retinoblastoma and second primary tumors, site of second tumors (anatomic and compared with irradiation field), radiation dose, time to onset, and chemotherapy with or without TEM. The results are discussed and compared with the data reported in the literature. Electron beam radiotherapy at a dose of 45 Gy does not eliminate the risk of nonocular second primary tumors. TEM also does not modify survival or the overall incidence of second primary tumors, but significantly increases the risk of second primary tumors outside the irradiation field.
PURPOSE: To evaluate the response/recurrence rate and the outcome in intraocular retinoblastoma treated with chemoreduction and focal therapy, the authors performed a retrospective review of their patients. METHODS: The series included 46 newly diagnosed patients with unilateral or bilateral intraocular retinoblastoma (58 eyes) receiving carboplatin/etoposide chemotherapy associated with focal therapy (laser or cryotherapy). The mean follow-up was 53 months (range 11-125). RESULTS: Fifty-one eyes (88%) presented with complete response after four to eight courses of chemotherapy combined with focal treatment. The response rate was 100% in group 1, 94% in group 2, 100% in group 3, 83% in group 4, and 70% in group 5 (5 vs. 1-4, P < 0.03; 5-4 vs. 1-3, P < 0.025). Twenty-nine eyes (57%) relapsed after a mean of 7 months (range 2-36). The relapse rate was 30% in group 1, 27.% in group 2, 67% in group 3, 80% in group 4, and 100% in group 5 (5 vs. 1-4, P < 0.001; 4-5 vs. 1-3, P < 0.001). Seven of 18 cases achieved a second complete response with further conservative treatment (total courses 8-14). Twenty-nine eyes (50%) were treated without external-beam radiotherapy or enucleation: 90% in group 1, 69% in group 2, 67% in group 3, 33% in group 4, and 6% in group 5 (5 vs. 1-4, P < 0.01; 5-4 vs. 1-3, P < 0.001). Ten eyes (17%) required external-beam radiotherapy and 21 eyes (36%) enucleation. The ocular salvage rate was 67%. CONCLUSIONS: Although all groups of patients with intraocular retinoblastoma responded to carboplatin/etoposide chemotherapy associated with focal therapy, all the cases in group 5 relapsed. This approach is questionable in group 5, in which could be justified to delay aggressive treatment in a very young child.
BACKGROUND: The purpose of the present study was to determine modes of presentation of retinoblastoma and the association between proptosis with orbital extension and histopathologically detectable optic nerve infiltration by the tumour. METHODS: Clinical records and histopathological reports of patients with retinoblastoma were studied retrospectively. The work was undertaken at a tertiary care hospital in eastern Nepal during the period from September 1995 to August 2002. RESULTS: A total of 43 patients with retinoblastoma were studied. Among them unilateral involvement was found in 39 patients (90.70%) and bilateral involvement in four patients (9.30%). The mean age of presentation was 3.04 +/- 1.80 years (95% confidence interval = 2.49-3.59). The commonest mode of presentation was proptosis with orbital extension in 19 eyes (40.42%) followed by leucokoria in 14 eyes (29.78%). Histopathological reports of 42 eyes (one patient died shortly after admission and did not have an autopsy) confirmed the diagnosis of retinoblastoma and revealed that the optic nerve cut section had been infiltrated in 18, of which 16 had the clinical finding of proptosis with orbital extension. This was statistically significant (relative risk = 21.33, P < 0.001). CONCLUSION: The commonest mode of presentation of retinoblastoma in Nepal is proptosis. Presence of proptosis with orbital extension is associated with optic nerve cut end infiltration by the tumour. The diagnosis or presentation of retinoblastoma in Nepal is delayed and there is tremendous scope for improvement in its management.
PURPOSE: This study was conducted to investigate the potential of targeting epithelial cell adhesion molecules (EpCAMs) in the treatment of retinoblastoma. It was first determined whether EpCAM is expressed in retinoblastoma and then whether EpCAM reactivity correlates with tumor aggressiveness. METHODS: EpCAM reactivity was evaluated by immunohistochemistry in 43 retinoblastoma specimens from 43 patients, by using the monoclonal antibody GA733.2. The tumors were divided into two groups. There were 20 tumors with no invasion of the choroid and optic nerve (group A) and 23 tumors with invasion of the choroid, optic nerve, and orbit (group B). EpCAM reactivity was correlated with invasion and differentiation of the tumors. RESULTS: Among the 43 tumors, EpCAM reactivity was observed in 100% (43/43) tumors. EpCAM reactivity was significantly higher in the invasive than the noninvasive tumors (P < 0.05) and in poorly differentiated than in well-differentiated tumors (P < 0.005). Non-neoplastic retina also expressed EpCAM. CONCLUSIONS: The results confirm that EpCAM is vastly expressed in retinoblastoma and point to its use as a target for therapy in the future.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.