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PubMedDate not supplied

Clinical variations of trilateral retinoblastoma: a report of 13 cases.

Of 440 consecutive children with retinoblastoma whom we treated between April 1972 and April 1992, 13 (3%) developed a midline intracranial neoplasm. Four of these 13 patients had bilateral familial retinoblastoma, 7 had bilateral sporadic retinoblastoma, and 1 patient had unilateral familial retinoblastoma. The twin brother of the latter patient developed pinealoblastoma without retinoblastoma. In this series, the incidence of trilateral retinoblastoma was 8% of all bilateral familial retinoblastoma and 5% of all bilateral sporadic retinoblastoma. The retinoblastoma was diagnosed at a mean age of 4.5 months and the midline intracranial tumor was diagnosed at a mean age of 23 months. The mean time interval between the diagnosis of retinoblastoma and the intracranial tumor was 22 months (range, 0 to 48 months). Seven patients (55%) were asymptomatic and their intracranial neoplasm was found on routine brain-imaging studies. The primary intracranial neoplasm had a pineal location in 10 cases and parasellar location in three cases. Despite aggressive combined treatment, 12 patients (92%) have died at a mean interval of 11 months after the diagnosis of intracranial malignancy. The mean survival of patients with midline intracranial neoplasm who were asymptomatic was significantly longer than that of symptomatic patients (P = .05).(ABSTRACT TRUNCATED AT 250 WORDS)

Brain Neoplasms↗
PubMedDate not supplied

The genetics of retinoblastoma and current diagnostic testing.

We review the genetics of retinoblastoma and the most recent molecular detection methods. Retinoblastoma, the most common intraocular tumor in children, occurs in either a heritable or non-heritable form. The heritable form, which is highly penetrant and predisposes individuals to a considerably greater second tumor risk, can be distinguished most definitively through the use of genetic testing. Genetic testing for individuals and families suspected of carrying the heritable mutations can help ensure that more comprehensive treatment plans and accurate genetic counseling for affected individuals and their families are provided.

DNA, Neoplasm↗
PubMed1998

[Expression of CD44 molecule and its significance in uveal and conjunctival melanomas].

The aim of this study was to evaluate the role of over expression of CD44 molecule in the development and progression of uveal and conjunctival melanomas. Flow cytometry (FCM) and immunofluorescence methods were used for detecting the CD44V expression in uveal malignant melanomas (UMM), conjunctival nevi (CN) and conjunctival malignant melanomas(CMM). The expression content of CD44 in 7 cases of CMM was significantly higher than that in 5 cases of CN (P < 0.05); the CD44V positive expression percentages in 7 cases of CMM and 40 cases of UMM were 71.43% and 62.50% respectively; the expression content of CD44V in UMM was related to scleral invasion (P = 0.0105); there was a negative correlation between the expression content of CD44V and proliferative index (PI), S-phase fraction (SPF) (P < 0.01; P < 0.05). The results suggested that the over expression of CD44V might be involved in the development of CMM and UMM and related to local infiltration ability of UMM and that the CD44V expression content detected by FCM might be helpful in discriminating CN From CMM, but this waited for further research confirmation.

Conjunctival Neoplasms↗
PubMed1975

Oral bacille Calmette Guérin immunostimulation in malignant melanoma.

Forty-seven patients representing all stages of malignant melanoma have been treated orally with bacille Calmette Guérin as an adjunct to standard treatment regimens. This is a preliminary study, but it appears that orally administered bacille Calmette Guérin in localized disease may delay the development of local recurrence and distant spread. In patients with disseminated melanoma but without intracranial metastases, the survival time is increased from 4.0 to 12.7 months. It has no effect on the progress of disease in patients with intracranial metastases or in those with hepatic metastases from intraocular melanoma.

Administration, Oral↗
PubMedDate not supplied

[Non-Hodgkin's lymphomas: current aspects].

OBJECTIVE: We wish to briefly review current knowledge of non-Hodgkin lymphomas (NHL) with special emphasis on aspects of interest in ophthalmology, otorhinolaryngology and neurology. DEVELOPMENT: We analyze the historical evolution of the classification of the NHL and refer to that recently devised by the World Health Organization. Amongst the numerous conditions forming part of this group of disorders we refer to the main data (clinical, immunophenotype, cytogenetics and of molecular biology) relative to the five most important types: 1. Follicular lymphoma; 2. Diffuse large cell lymphoma; 3. 'Mantle' cell lymphoma; 4. MALT lymphoma (mucosa associated lymphoid tissue), and 5. Peripheral T lymphoma. Then we describe the types and clinical forms of NHL in ophthalmology, otorhinolaryngology and neurology. Finally we consider the recent advances in prognosis (international index, biological markers) and treatment (new types of polychemotherapy, eradication of Helicobacter pylori, transplant of hemopoietic progenitors, monoclonal antibodies and anti-sense treatment of these conditions. CONCLUSIONS: The NHL form a group of conditions in which the annual increase in recent years has been over 4%. With considerable frequency these tumors are found from the beginning or during their course in otorhinological and ophthalmic tissues, or in the nervous system; in the latter case, apart from direct tumour expression they may also cause paraneoplastic manifestations.

Antibodies, Monoclonal↗
PubMed2000

Primary noncutaneous melanoma.

Primary noncutaneous melanomas are rare neoplasms that affect patients in an older age group than primary cutaneous melanomas. The prognosis is worse than primary cutaneous melanomas because of the advanced stage at the time of diagnosis, the rich vascular and lymphatic supply of mucosal sites, and the lack of clinical suspicion of the tumor because of its rarity. The initial treatment is surgical resection but the location may make it technically difficult to obtain complete tumor removal. Unlike cutaneous melanoma, sun exposure is not a risk factor for noncutaneous melanomas. Darker-skinned individuals may have a higher incidence of some noncutaneous melanomas, such as anorectal melanomas. It is important for clinicians and pathologists to recognize primary noncutaneous melanomas to provide early detection and optimum management.

Brain Neoplasms↗
PubMed2001

Morphological spectrum of ophthalmic tumors in northern Pakistan.

OBJECTIVE: The objective of the study was to assess the frequency and pattern of ophthalmic tumours in Northern Pakistan. METHODS: This study included all ophthalmic tumours diagnosed during a one year period (January to December 1992). RESULTS: One hundred and fourteen ophthalmic tumours were diagnosed at the Armed Forces Institute of Pathology (AFIP) and Pathology Department of the Army Medical College (AMC), Rawalpindi. Of these tumours, 70 were malignant (61.5%) and 44 were benign (38.5%). The age distribution of malignant ophthalmic tumours had two peaks. The first was seen in the paediatric age group and was mainly due to retinoblastoma. The second peak was seen above 50 years of age and was mainly due to conjunctival squamous cell carcinoma and malignant eyelid tumours which constituted 85% of the malignant ophthalmic tumours in paediatric age group. The average age at presentation of retinoblastoma was 3.8 years. The average age at presentation for squamous cell carcinoma was 56 years. Basal cell carcinoma was the most common malignant eyelid tumour (55%). The most common extraocular malignant orbital tumour was non-Hodgkin's lymphoma. Malignant melanoma of the uvea formed 22% of all melanomas diagnosed during this period. The most common benign tumours were naevi (33%), epidermal inclusion cysts (18%), choristomata (16%) and haemangioma (8%). The malignant ophthalmic tumours constituted 3% of all the malignant tumours diagnosed in Northern Pakistan during 1992 at AFIP and AMC, Rawalpindi. CONCLUSION: The ophthalmic tumours, both benign and malignant are not infrequent in clinical practice in Northern Pakistan.

Adolescent↗
PubMed1997

Designing manufacturing and the clinic application of the prosthesis for the patients with large ocular defects.

PURPOSE: To design and manufacture the prosthesis of external type for patients with ocular large defects. METHODS: Silicon and polymethyl methacrylate (PMMA) were chosen the chief materials: The main procedures are: taking the impression, color mixture, making primitive form of the prosthesis, modification and fixation. RESULTS: Fifty patients with large ocular defects took the prosthesis, the cosmetic results are satisfactory. All the patients give satisfactory comments on the 5 main indexes: color 90%, stereo-feeling 100%, peripheral difference 86%, fidelity 98% and fixation 86%. CONCLUSIONS: To make ocular prosthesis, materials with good quality and complicated technology are needed. The prosthesis made by silicon combined with PMMA show good results. Among the procedures of making prosthesis, color mixture and fixation are the most important.

Eye Neoplasms↗
PubMed2001

Detection of mutations in the RB1 gene by single strand conformation polymorphism (SSCP) analysis, amplification mismatch detection (AMD) analysis and polymerase chain reaction sequencing.

Mutations of the retinoblastoma gene are known to cause both nonhereditary and hereditary forms of retinoblastoma. Most patients with hereditary retinoblastoma have bilateral disease. Hereditary predisposition to retinoblastoma is caused by a germline mutation at the retinoblastoma gene locus (RB1) and transmitted as an autosomal dominant trait with 90% penetrance. Three quarters of these alterations represent de novo mutations. Since 75% of these cases are new mutations, there is a need for methods which can be used to identify carriers, so that informed genetic counselling will be available to patients and close relatives. In the present study, leukocyte DNA and RNA from 5 patients with sporadic bilateral retinoblastoma. were subjected to single stranded conformation analysis (SSCP) and amplification and mismatch detection (AMD) analysis. SSCP band shifts were found in 3 of the 5 patients. AMD was applied to reverse-transcriptase PCR and exons of the RB1 gene in the patients with bilateral retinoblastoma. Cleavage was found in 2 patients. Neither of these patients corresponded to the 3 with SSCP band shifts. Thus in total, 5 patients with retinoblastoma had mutations detected by a combination of SSCP and AMD analysis, and proof was sought by means of sequencing. This approach has proved to be a useful method for the rapid detection of mutations in the RB1 gene. The five mutations detected in this study were all novel and emphasise the heterogeneity of the molecular pathology in this gene.

Amino Acid Substitution↗
PubMed1975

[Diagnosis of tumor-like fundus changes by means of a combination of echography, infrared photography and fluorescein angiography (author's transl)].

Using a combination of echography, infrared photography and fluorescein angiography in tumor simulating changes of the fundus an optimum combination of these diagnostic methods was achieved. The echography allows exact measurements of the prominence and in lesions exceeding 1.1 to 1.5 mm also a tissue differentiation. By infrared photography melanin could be differentiated from the bloodpigments and lipofuscin and the extension of pigmented tissues could be revealed. Fluoresceinangiography visualizes the vascular pattern and the permeability of the vessels of tumors or pseudotumors. Up to now 100 cases with tumorlike fundus lesions were subjected to this combined examination method and many of these cases preserved from enucleation.

Choroid Neoplasms↗