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PubMedDate not supplied

Nucleoside diphosphate kinase (nm23 protein) expression in retinoblastoma.

Forty-two enucleated eyes of 42 patients with unilateral retinoblastoma were studied histologically, including histochemically examination with anti-nm23 polyclonal antibody which does not recognise cDNA but its product. Primary tumours of >15 mm diameter with less evidence of apoptosis and with the most pleomorphic and anaplastic nuclei were associated with an increased risk of distant metastasis, but rosette formation did not discriminate. A high intensity of nm23 staining also indicated a tendency to metastasize, consistent with childhood neuroblastoma but in contrast to findings in carcinoma of the breast, colon and uterine cervix.

Antigens, Neoplasm↗
PubMed2003

Treatment of intraocular retinoblastoma with vincristine and carboplatin.

PURPOSE: To evaluate the efficacy of chemoreduction using vincristine and carboplatin in preventing or delaying external-beam radiotherapy (EBRT) or enucleation in patients with intraocular retinoblastoma. PATIENTS AND METHODS: Twenty-five patients (43 eyes) with newly diagnosed intraocular retinoblastoma received primary treatment with eight courses of vincristine and carboplatin. Focal treatments were delayed until documentation of disease progression. Outcome measures for each eye were length of time to disease progression, avoidance or delay of EBRT, and globe survival. Event-free survival was defined as the length of time to EBRT or enucleation. RESULTS: Disease in all eyes responded to chemotherapy and progressed in only two patients before completion of the eight courses of therapy. Disease in all but four eyes progressed and required focal treatments. Event-free survival estimates at 2 years were 59.2% +/- 12.0% for Reese-Ellsworth group I, II, and III eyes and 26.3% +/- 9.2% for group IV and V eyes. Nineteen eyes (44.2%) required EBRT and 13 eyes (30.2%) were enucleated. The ocular salvage rate was 83.3% for Reese-Ellsworth group I to III eyes and 52.6% for group IV and V eyes. For those patients receiving EBRT, the median time from enrollment to EBRT was 9.5 months (median age at EBRT, 21 months). CONCLUSION: In combination with appropriate early intensive focal treatments, chemoreduction with vincristine and carboplatin, without etoposide, may be an alternative treatment for patients with early-stage intraocular retinoblastoma, although additional studies are needed. Patients with advanced intraocular disease require more aggressive treatments.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1998

Pheochromocytoma in von Hippel-Lindau disease: clinical presentation and mutation analysis in a large, multigenerational kindred.

The clinical presentation and characterization of the mutation in members of a large kindred with von Hippel-Lindau disease (VHLD) and pheochromocytoma were examined. Twenty-five proven cases of VHLD occurring in four generations of a large kindred have been followed since 1964, and pheochromocytoma has occurred in 17. Symptoms of pheochromocytoma developed at an early age, on average at 12.5 +/- 1.3 yr, and definitive diagnosis and treatment of pheochromocytoma occurred at 19.9 +/- 2.6 yr. Significantly higher urine catecholamine concentrations were observed in younger patients than in older ones. Mutation analysis was performed in 14 family members, and a new mutation in the VHLD gene was identified in 11; this mutation is a G to T change at nucleotide 658 that results in the substitution of a serine for an alanine residue at position 149 of the polypeptide chain. Seven of the 11 patients with the mutation have VHLD; four, all 10 yr old or less, are asymptomatic and have no evidence of disease, but are at high risk for developing VHLD. These children are being followed closely for clinical and biochemical manifestations. The characterization of this new mutation has permitted identification of family members who are likely to develop VHLD.

Adenoma↗
PubMed2003

CT and MRI features of recurrent tumors and second primary neoplasms in pediatric patients with retinoblastoma.

OBJECTIVE: The aim of our study was to describe the CT and MRI findings of recurrent tumors and second primary (malignant and benign) neoplasms in patients with retinoblastoma and to evaluate imaging features to assist in distinguishing them. MATERIALS AND METHODS: Records of 445 pathologically confirmed retinoblastomas were retrospectively reviewed. Thirty-four patients with recurrent retinoblastomas and 15 patients with second primary neoplasms who underwent CT and MRI were evaluated by two radiologists with agreement by consensus. RESULTS: Invasive patterns of recurrent tumors included type A, intraocular tumor (n = 13); type B, intraorbital tumor with spread into the optic nerve shown as enlargement and marked enhancement of the optic nerve on contrast-enhanced CT or MRI (n = 6); and type C, tumor extending to the lateral aspect of the orbit and invading the brain via the sphenoidal bone (n = 2). Thirty-eight percent of patients with recurrent tumors had distant metastases (n = 7) or leptomeningeal metastases (n = 6). Leptomeningeal metastases were found only in recurrent tumors. Second primary neoplasms included osteosarcoma (n = 5), rhabdomyosarcoma (n = 5), meningioma (n = 4), and other tumors (n = 3). A significant difference was seen between the patients' ages at the time of diagnosis of recurrent tumors and second primary neoplasms (p < 0.0001). Extraorbital tumors were found more frequently among second primary neoplasms than among recurrent tumors (p < 0.001). CONCLUSION: Both recurrent tumors and second primary neoplasms in patients with retinoblastoma often show characteristic imaging features. The tumor distribution on CT and MRI may help in differentiating recurrent tumors and second primary neoplasms.

Adolescent↗
PubMedDate not supplied

"Eight drugs in one day" chemotherapy in a nonfamilial bilateral retinoblastoma with recurrent cerebrospinal fluid metastases.

A case of bilateral retinoblastoma with recurrent cerebrospinal fluid (CSF) metastases is presented. The patient underwent left eye enucleation and received external beam radiotherapy to the right eye. A sequential combination chemotherapy, including cyclophosphamide, vincristine, carboplatin, and etoposide with intrathecal drug administration, was then adopted. During treatment a relapse within the central nervous system (CNS) occurred. The "8-in-1-day" chemotherapy, used in our department in medulloblastoma patients with CSF involvement was then considered. The patient received 8 total courses, each with intrathecal drug administration. No toxicity was experienced. The patient is alive and free from CSF metastases after a period of 48 months and has been in continuous complete remission (CCR) for 41 months. The authors conclude that the use of the "8-in-1" regimen is feasible and can be used in retinoblastoma patients with recurrent CSF metastases.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

Histopathologic analysis of 232 eyes with retinoblastoma conducted in an Indian tertiary-care ophthalmic center.

PURPOSE: To study the histopathologic features of 232 enucleated eyes with retinoblastoma. MATERIALS AND METHODS: Two hundred thirty-two enucleated eyes with retinoblastoma in a tertiary-care institute from 1982 to 2001 were reviewed. Data were collected and analyzed about the type of growth and the presence or absence of vitreous or subretinal seeding, rosettes and fleurettes, necrosis, calcification, iris neovascularization, and invasion of the anterior chamber, iris, choroid, optic nerve, and sclera. Choroidal invasion was graded using a new system. Results were analyzed for statistical significance. RESULTS: The endophytic growth pattern was common in 118 (51%) of the eyes. Vitreous seeds were present in 109 (47%) of the tumors, 23 (10%) of the tumors had subretinal seeds, and 14 (6%) of the tumors had both. Poorly differentiated tumors were present in 134 (58%) of the eyes. Iris neovascularization was noted in 71 (31%) of the eyes and choroidal invasion was observed in 78 (34%) of the eyes. Of these 78 eyes, full-thickness (stage 4) choroidal invasion was present in 51 (65%). Optic nerve invasion was observed in 75 (32%) of the eyes, of which prelaminar involvement occurred in 40 (53%) and postlaminar involvement occurred in 22 (29%). CONCLUSION: A higher incidence of choroidal and optic nerve infiltration was noted among Asian Indian children than among children from the West. This could be due to delayed diagnosis or to a difference in the biological behavior of tumors occurring in the Asian Indian population.

Choroid↗
PubMed1999

[Current therapeutic management in retinoblastoma with invasion of the optic nerve--a case report].

INTRODUCTION: Retinoblastoma is the most frequent primitive intraocular tumour in children. The extension of retinoblastoma at the optic nerve level gives a dark prognosis implying a complex treatment and a long period of supervision. OBSERVATION: An eleven-months-old child, female, is taken in the hospital with the suspicion of retinoblastoma left eye. The diagnosis was suspected when the child was six months old within another ophthalmologic department, but the treatment was postponed. Surgical treatment consisted of enucleation with at least a 10 mm resection of the optic nerve. The anatomo-pathologic examination shows a retinoblastoma with the optic nerve invasion (stage II b 2--after Grabowski's classification). Because of the early age of the patient, we are obliged to give up applying radiotherapy (technical reasons) and systemic chemotherapy is recommended, in six cycles, under very severe clinic and paraclinic control. CONCLUSIONS: The extension of retinoblastoma at the optic nerve level indicates a severe prognosis with high lethal risk. The correct treatment during thus phase implies the association of radiotherapy (40-45 Gy) and chemotherapy. After 24 months from the finishing of the treatment the patient is in total remission (clinic and paraclinic), but the supervision is going on for at least another 3 years. The early enucleation as well as its appliance with the removal of a large part of the optic nerve represents a therapeutical manner and leads to an important prognosis.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2000

[Actualities in retinoblastoma's treatment].

The management of retinoblastoma should be undertaken by multidisciplinary health care team. Ophthalmopediatrics and ocular oncologists have sought effective alternative methods for treating retinoblastoma. The management of retinoblastoma has been changed significant past few years. Recently, advances in understanding of retinoblastoma have led to trials of new treatment modalities aimed at decreasing morbidity and continuing excellent survival. This review tries to present the new and modern aspects in retinoblastoma therapy.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

[Retinoblastoma].

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Neoplasms↗