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PubMed2001

Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma).

OBJECTIVE: To evaluate whether neoadjuvant intravenous chemotherapy (chemoreduction) for retinoblastoma reduces the risk for associated intracranial neuroblastic tumor (trilateral retinoblastoma). DESIGN: Retrospective consecutive case series. PARTICIPANTS: Two hundred fourteen consecutive children with newly diagnosed retinoblastoma treated at a major ocular oncology center from January 1, 1995, to July 1, 1999. MAIN OUTCOME MEASURE: Development of associated intracranial neuroblastic tumor (trilateral retinoblastoma). RESULTS: During the 54-month study period, 142 patients (66%) received chemoreduction (consisting of vincristine sulfate, etoposide phosphate, and carboplatin therapy) as part of their treatment strategy (chemoreduction group), whereas 72 (34%) were treated with nonchemoreduction methods (nonchemoreduction group). In the chemoreduction group, no associated intracranial neuroblastic tumor developed during the mean 47-month follow-up. Based on a recent meta-analysis of the prevalence of trilateral retinoblastoma, we would have expected the intracranial tumor to develop in 5 to 15 patients with hereditary retinoblastoma. This lack of associated trilateral retinoblastoma in the chemoreduction group was significantly less than expected using binomial distribution (P<.001). In the nonchemoreduction group, associated intracranial tumor (pinealoblastoma) developed in 1 patient, a finding consistent with the expected frequency. CONCLUSION: Chemoreduction protects against the highly fatal associated intracranial neuroblastic tumor (trilateral retinoblastoma). This observation is especially important in children with bilateral or familial retinoblastoma who are at greatest risk for this brain tumor.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2004

Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient.

We report the presence of a hemizygous inactivating germ-line RB1 mutation (a recurrent g.78250C-->T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinoblastoma. Hemizygosity was established by sequencing that showed no traces of the wild-type C nucleotide and by quantitative real-time PCR, which showed loss of one copy of exon 17. Genotyping of the RB1 locus with several polymorphic markers delineated a maximal deletion region between g.76875 and g.99426, including exons 15-17 and a large piece (21 kb) of intron 17. The heterozygosity for the mutation found in skin fibroblasts proves that the intragenic RB1 deletion probably took place in the definitive hematopoietic lineage of the patient. The presence of a null Rb-/- genotype in the hematopoietic cell lineage suggests that the white blood cells of the proband could be useful in the investigation of the role of complementary RBI family proteins in the control of the cell cycle.

Blood Cells↗
PubMed2002

Variability of three-dimensional ultrasonography for assessment of intraocular tumours.

BACKGROUND: Variability is introduced in three-dimensional (3-D) ultrasound assessments of intraocular tumours when multiple observers examine the same tumour or when multiple scans and measurements of the same tumour are carried out. We evaluated the magnitude and sources of variation associated with 3-D ultrasound measurements of choroidal tumour volume. METHODS: Three examiners performed 3-D ultrasonography of five choroidal tumours. Each examiner performed three scans of each tumour and then measured each scan three times to determine the volume. We determined the variation attributable to differences between examiners, scans and measurements by evaluating the contribution of each to the overall variation in tumour volume. A similar process was performed for tumour height for comparison purposes. RESULTS: The reliability of tumour volume measurements was found to be very high. The amount of overall variation, as defined by the coefficient of variation, was similar for tumour volume and tumour height and ranged from 4% to 17%. A total of 97% of the variation in tumour volume measurements and 84% of the variation in tumour height measurements was due to differences between tumours. Differences between examiners accounted for the most of the remaining variation (2% for volume and 7% for height). INTERPRETATION: Three-dimensional ultrasonography of intraocular tumours was highly reliable. Differences between examiners were the main source of variation.

Choroid Neoplasms↗
PubMed1999

A clinical and molecular genetic analysis of solitary ocular angioma.

OBJECTIVES: To determine whether ocular angioma can occur in the absence of von Hippel Lindau (VHL) syndrome, to define the clinical characteristics of sporadic (non-VHL) angioma, and to estimate a prevalence for sporadic ocular angioma. DESIGN AND PARTICIPANTS: A cross-sectional study of a cohort of patients with apparent sporadic ocular angiomatosis recruited from throughout the United Kingdom. INTERVENTION: Clinical details and a family history were obtained for the patients in the cohort. Systematic ocular examination and further systemic screening were performed on the patients and relatives when possible. Leukocyte DNA was examined for VHL germline mutations. MAIN OUTCOME MEASURES: Patients with solitary and typical VHL-like ocular angioma, without clinical and family histories for VHL, were selected as possible sporadic (non-VHL) ocular angioma cases. An estimate of the population prevalence of sporadic (non-VHL) ocular angioma was made from patients presenting in the East Anglian region of the United Kingdom over a 25-year period. RESULTS: From 32 patients referred, 17 had typical solitary ocular angioma and no evidence of other VHL complications in themselves or in family members. All 17 patients were negative for germline VHL mutations. The mean age of presentation was 30.9 years (median, 27.5; range, 3-52); 11 of 17 eyes suffered visual loss and 4 of 17 tumors occurred on the optic disc. The estimated prevalence of non-VHL ocular angioma was 9.0 x 10(-6), 95% confidence interval (CI) = 3.3 - 19 x 10(-6) (1 in 110,000 persons, 95% CI = 1 in 53,000-300,000). CONCLUSIONS: Sporadic ocular angioma can occur in the absence of VHL disease but appears less prevalently than VHL itself. The age of presentation, degree of visual morbidity, complications, morphology, and anatomic location of tumors are similar to those seen in VHL disease.

Adult↗
PubMed2004

Trilateral retinoblastoma: clinical and radiologic progression.

OBJECTIVE: The purpose of this study was to assess the clinical and radiologic features of tumor progression in children with trilateral retinoblastoma. MATERIALS AND METHODS: Clinical records of eight children with trilateral retinoblastoma were reviewed for the patient's age at the time of diagnosis of the ocular tumor, time interval from diagnosis of ocular retinoblastoma to discovery of the intracranial tumor, time interval from diagnosis of retinoblastoma to death, and time interval from diagnosis of the intracranial tumor to death. CT or MRI studies were reviewed for the appearance of the primary intracranial neoplasm, intracranial metastases, and spinal metastases. RESULTS: The mean age of the patients at diagnosis of bilateral retinoblastoma was 4.5 months, and the mean age at diagnosis of the intracranial midline tumor was 26 months. The mean interval from the time of diagnosis of retinoblastoma to discovery of the intracranial tumor was 21.5 months. Two children had spinal leptomeningeal metastases at the time of discovery of the midline intracranial mass although no intracranial metastases were seen on imaging. In the other children, intracranial and spinal leptomeningeal metastases frequently developed within months of the diagnosis of retinoblastoma despite lack of progression in the midline intracranial lesion. Six children died of leptomeningeal spread of tumor. The mean interval from diagnosis of the ocular tumor to death was 46 months and from diagnosis of the intracranial tumor to death was 17 months. One child developed metastatic retinoblastoma in the ulna 10 years after the diagnosis of the intracranial tumor. CONCLUSION: Children typically died of leptomeningeal tumor dissemination despite lack of progression in the midline intracranial mass. Effective treatment of trilateral retinoblastoma may require close evaluation of these children for leptomeningeal dissemination.

Brain Neoplasms↗
PubMed1996

Detection of RB germline mutations using exon-by-exon heteroduplex analysis compared with SSCP.

PURPOSE: To compare heteroduplex analysis with SSCP and to develop a simple and effective method for mutational screening of RB gene. MATERIALS AND METHODS: Leukocyte DNA was prepared from 12 unrelated Japanese patients with hereditary retinoblstoma. PCR combined with simultaneous nonisotopic heteroduplex and SSCP analysis was used to screen leukocyte DNA for such mutations, exon-by-exon, without the use of restriction endonuclease digestion. PCR was conducted using 28 pairs of primers flanking all 27 exons and the promoter region of the RB gene, with PCR products ranging from 159bp to 326bp. Mutations were identified by sequencing. RESULTS: Heterozygous germline mutations were detected in 8 of 12 Japanese patients. The mutations were identified by sequencing as follows: G-->C/acceptor of exon 11, T insertion/codon 389, C-->T/codon 455, 33bp insertion/codon 455 (C decreases GA), G-->T/codon 533, C-->T/codon 579, C deletion/codon 674, and C-->T/codon 787. CONCLUSION: Our results suggest that small RB gene mutations are common. Heteroduplex analysis has advantage over SSCP and they may complement each other for the rapid detection of unknown mutations.

DNA, Neoplasm↗
PubMed2001

Interferon-induced retinopathy in asymptomatic cancer patients.

OBJECTIVES: Interferon-induced ocular complications, including retinal ischemia and ischemic optic neuropathy, can be associated with significant visual loss. We report three cases of asymptomatic ischemic retinopathy in cancer patients receiving interferon. DESIGN: Retrospective, interventional, noncomparative small case series. METHODS: Retrospective review of the medical records and fundus photographs. RESULTS: Interferon-induced ischemic retinopathy can occur in asymptomatic cancer patients. The retinal changes are usually reversible with discontinuation of interferon therapy. CONCLUSIONS: These three cases underscore the importance of dilated funduscopic examination at baseline and during follow-up, at least every 3 months, for all cancer patients receiving interferon to identify retinal toxicity at its earliest stages. A prospective study evaluating the incidence and severity of interferon retinopathy in cancer patients would be prudent.

Adult↗
PubMed2000

Successful treatment of metastatic retinoblastoma.

BACKGROUND: In the past, patients with metastatic retinoblastoma have had a poor prognosis when treated with conventional modalities. In the current study, the authors evaluated the use of combined intensive conventional chemotherapy, high dose chemotherapy with autologous stem cell rescue (ASCR), and radiation therapy. METHODS: Four patients with metastatic retinoblastoma were treated. All had orbital and bone marrow metastases. In addition, three patients had bone metastases and two patients had liver metastases. None had central nervous system disease. Patients received intensive conventional chemotherapy that included vincristine, cyclophosphamide, etoposide, and either cisplatin or carboplatin. Stem cells were harvested after bone marrow disease was no longer detectable. High dose chemotherapy with carboplatin (500 mg/m(2)/day x 3 days or area under the curve = 7 via the Calvert formula) and thiotepa (300 mg/m(2)/day x 3 days) with (n = 3 patients) or without (n = 1 patient) etoposide (250 mg/m(2)/day x 3 days) was administered with ASCR. Sites that originally harbored bulky disease were irradiated after recovery from the high dose chemotherapy. RESULTS: The therapy was associated with substantial acute hematopoietic and mucosal toxicities. At last follow-up, all four patients had survived event free from 46-80 months after the diagnosis of metastatic disease. CONCLUSIONS: The treatment strategy described in the current study is effective for patients with metastatic retinoblastoma that does not involve the central nervous system. However, a multicenter trial should be considered to evaluate it in a larger group of patients.

Adolescent↗
PubMed1987

Central retinal artery occlusion.

Injecting steroid crystals into orbital inflammatory lesions produces a prolonged, high level of drug activity at the target tissue. This technique appears helpful in controlling orbital inflammations in problem cases while reducing the chance of steroid related systemic side effects. We report a patient who experienced central retinal artery occlusion from steroid particles injected into an orbit inflammatory mass. The mechanism of this complication and methods to reduce the chance of central retinal artery embolization are discussed.

Adult↗
PubMed1979

Retinociliary vein associated with a craniopharyngioma.

A 60-year-old white man had a diagnosis of craniopharyngioma made in 1945. Three operations for partial tumor removal were performed in 1951, 1957, and 1962. Ophthalmoscopy and fluorescein angiography revealed bilateral optic atrophy and a large retinociliary vein in the left eye. The present report is the only example of a retinociliary vein documented with photography and fluorescein angiography. It is not possible to ascertain whether this retinociliary vein is an acquired malformation or a congenital development anomaly. The extreme rarity of this entity, though, suggests that this retinociliary vein developed as a result of obstruction, by the craniopharyngioma, to the retinal venous outflow during early development.

Ciliary Body↗
PubMed2006

Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma?

PURPOSE: Patients with hereditary retinoblastoma (Rb) develop in 4%-8% a malignant midline tumor called trilateral Rb (TRb). We report in this study on benign pineal cysts observed in patients investigated for TRb. PATIENTS AND METHODS: Between September 1990 and December 2001, 172 patients were screened for TRb. Ninty-five had bilateral, 77 unilateral disease. The median age at diagnosis of Rb was 7 months (range 1-26). Treatment included enucleation, local treatment with cryotherapy or photocoagulation, first-line chemotherapy (CT), thermo-chemotherapy (TCT), Ruthenium plaque, and, rarely, external beam radiation (EBR). RESULTS: TRb was found in 5/95 patients (5.3%) with bilateral disease. Interestingly, five other patients (5.3%) presented a pineal cyst on magnetic resonance imaging (MRI). No cysts were recorded in the 77 patients with unilateral disease. This difference was statistically significant (P < 0.05). The median age at diagnosis of the pineal cyst was 26 months (range 16-80), much younger than reported in literature for healthy children. Four of five patients with TRb died of the disease, while all the patients with pineal cysts remained stable and asymptomatic during a median follow-up of 41 months (range 37-54). CONCLUSIONS: This report describes benign cystic lesions of the pineal gland in patients with hereditary Rb, suggesting a benign variant of TRb. Underlying possible pathogenetic mechanisms are discussed.

Brain Neoplasms↗
PubMed1999

Postpartum cerebellar herniation in von Hippel-Lindau syndrome.

PURPOSE: To describe exacerbation during pregnancy of cerebellar hemangioblastoma in von Hippel-Lindau syndrome. METHOD: Case-report. A 21-year-old woman with von Hippel-Lindau syndrome was found on routine ocular examination to have severe papilledema 1 week after giving birth. RESULTS: Immediate magnetic resonance imaging disclosed a large cerebellar cyst from hemangioblastoma causing cerebellar tonsillar herniation. Immediate neurosurgical intervention was life saving. CONCLUSION: Worsening of intracranial hemangioblastoma during pregnancy in cases of von Hippel-Lindau syndrome should be realized and periodic neurologic and ophthalmologic observation is warranted.

Acute Disease↗
PubMed2000

Is screening for primitive neuroectodermal tumors in patients with unilateral retinoblastoma necessary?

Retinoblastoma is the most common childhood intraocular tumor, occurring in 1 of 18,000 live births. Retinoblastoma may occur as a germinal mutation or a somatic mutation. Forty percent of retinoblastoma cases are caused by a germline mutation and include those patients with a positive family history of the disease. Children with hereditary forms usually have multifocal, bilateral retinoblastoma, whereas children with the somatic form have unilateral, unifocal disease. However, up to 15% of cases of sporadic unilateral retinoblastoma may be hereditary. It is important to recognize that this subgroup of unilateral patients remains at risk for the development of second tumors as well as second primary tumors of the intracranial midline, or "trilateral retinoblastoma." We report a case of a 2-month-old child with unilateral retinoblastoma in whom pinealoblastoma subsequently developed.

Brain Neoplasms↗
PubMedDate not supplied

Cell death in retinoblastoma: electron microscopic, immunohistochemical, and DNA fragmentation studies.

Apparent cell loss by apoptosis occurs in carcinomatous tissue. To investigate cell death in retinoblastoma (Rb), ultrastructural examination, ApopTag staining, electrophoresis to detect apoptotic DNA fragmentation, and flow cytometric studies were performed. Immunostaining for the oncogenic products bcl-2 and p53 was also carried out. Relationships between the proliferation fraction (PF), apoptotic index (AI), and the distribution of bcl-2 and p53 were investigated according to the degree of histologic differentiation of Rb. Ultrastructurally, two patterns of cell death were seen. Necrotic cells exhibited vacuolation of cytoplasmic organelles with a marked lytic change in the karyoplasm and cytoplasm. In contrast, apoptotic cells were characterized by crescentic margination of chromatin, condensation of karyoplasm and cytoplasm, and fragmentation of the nucleus. Differentiated Rb had a low AI value (< 1%), whereas undifferentiated Rb had a high AI value (> 8%). The PF of undifferentiated RB (31%) was significantly higher than that of differentiated RB (14%). Analysis of DNA fragmentation using 3'-end labeling with terminal transferase indicated that undifferentiated Rb has increased DNA cleavage. The distribution of apoptotic bodies within Rb was inversely correlated with the expression of bcl-2. A majority of tumor cells of differentiated Rb were negative for p53, whereas 20-40% of tumor cells of undifferentiated Rb showed a positive reaction for p53. These findings suggest that the degree of susceptibility to apoptosis is closely related to PF, is inversely related to the degree of differentiation of Rb, and is protected by oncogene bcl-2.

Apoptosis↗