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An immunohistopathologic study of trilateral retinoblastoma.

We examined retinal and midline pineal tumors from four patients with trilateral retinoblastoma who had antibodies against neural-associated antigens including neuron-specific enolase, photoreceptor cell proteins (S-antigen and rhodopsin), and glial fibrillary acidic protein. Expression of neuron-specific enolase was observed in all four patients. S-antigen immunoreactivity was present in three of four ocular tumors and two of four pineal tumors examined, whereas results of labeling with rhodopsin and glial fibrillary acidic protein were negative in each of the ocular and pineal tumors.

Brain Neoplasms↗

Lymphoproliferative lesions of the lacrimal gland: clinicopathological, immunohistochemical and molecular genetic analysis.

BACKGROUND: Lacrimal gland lymphoproliferative disorders are usually classified as orbital adnexal tumours. Because the lacrimal gland is the only orbital structure with native lymphocytes, we examined cases with primary involvement of the gland. METHODS: The 14 cases were selected from a review of all cases in the surgical pathology files of the Ottawa Hospital between 1992 and 2003. The lesions were categorized according to the latest World Health Organization classification of tumours of lymphoid tissues. We conducted a clinical, histopathological, immunohistochemical, immunophenotypic and molecular genetic analysis of the cases. RESULTS: The 8 female and 6 male patients, aged 20 to 88 (mean 60) years, were followed for an average of 4 years (range 11 months to 13 years). All presented with supratemporal orbital swelling. The 5 primary lymphomas, of mucosa-associated lymphoid tissue (MALT), were confined to the lacrimal gland (stage IE); 1 tumour transformed to diffuse large B-cell lymphoma, necessitating chemotherapy, and the other 4 were treated with radiation. One of the 5 patients had previously had Sjögren's syndrome. The 6 secondary lymphomas (4 follicular) presented either concurrently with systemic lymphoma or up to 12 years afterwards and were treated in a variety of ways; all the patients had an orbital relapse. At the last follow-up assessment, 6 of the patients with lymphoma had no evidence of disease, 3 were alive with disease, 2 had died (1 of lymphoma, the other with no evidence of disease), and the status of 1 patient was not known. Of the 3 patients with reactive proliferations, 2 had reactive lymphoid hyperplasia (associated with Sjögren's syndrome in 1), and 1 had Rosai-Dorfman disease. All 9 lymphomas that underwent molecular genetic analysis were of B-cell lineage, and 8 had a monoclonal rearrangement in the immunoglobulin heavy-chain gene (IgH); the 9th lymphoma showed an oligoclonal rearrangement. One lymphoma showed the t(14;18) translocation, typical of follicular lymphoma; no lymphoma showed the t(11;18) translocation, commonly found in MALT lymphoma (but only 2 cases were studied). Molecular genetic analysis was performed in 2 of the cases of reactive lymphoid hyperplasia: monoclonal IgH rearrangement was detected in 1 case (the patient with Sjögren's syndrome), oligoclonal rearrangement in the other. INTERPRETATION: Lacrimal gland lymphomas are B-cell tumours that develop in older adults. Primary tumours, a hIgH proportion of which have MALT characteristics, have a favourable prognosis. Molecular genetic studies may be useful when morphologic and immunophenotypic studies give equivocal results.

Adult↗

The computerised tomographic findings in paediatric orbital tumours.

Forty-two patients with histologically proven orbital tumours are presented. CT is of value in the pretreatment assessment and in delineating the extent of the orbital tumour. The surrounding bony destruction and intracranial extension are easily assessed. Post-treatment follow-up can be closely monitored using CT.

Child↗

Ocular tumors of childhood.

It is important for the pediatrician to be aware of the benign and malignant ophthalmic tumors that can occur in children. This article covers some general concepts related to ocular tumors in children and briefly describes the clinical features and management of some of the more important tumors of the eyelids, conjunctiva, intraocular structures, and orbit. Although most ocular tumors in children are benign, certain malignant neoplasms can threaten the child's life as well as the child's sight. Hence, prompt recognition and patient referral to an ocular oncologist are crucial for proper clinical management.

Child↗

[Lacrimal sac melanoma].

RESULTS: Mean stage (NOSPECS classification) at time of surgery was 4.5 (range 2-6). Mean stage postoperatively was 2.4 (range 0-5). Comparison of the mean stages showed significant improvement of ocular protrusion: 1.55 (range 1-2) postoperatively versus 2.4 preoperatively. Among the patients with optic neuropathy (stage 6, n=12), 83% (10/12) normalized PEV with normal or clear improvement in visual acuity three months postop. Diplopy remained unchanged in 45% (5/11) and improved in 45% (5/11), worsening in one patient. Clinical regression of the exophthalmia, irrespective of the intensity initially, was noted in 93% of patients at six months postop. All patient had overall improvement in the position of the eyelids at rest..

Bone Neoplasms↗

Neoplastic masquerade syndromes.

Masquerade syndromes are classically defined as entities which emulate inflammatory conditions but which are in fact due to a neoplastic process. Careful history and examination in concert with appropriate ancillary investigations and histopathologic evaluation of tissue specimens are required in order to make the correct diagnosis. Many conditions may result in an appearance mimicking an inflammatory condition. The authors review neoplastic conditions which may be considered masquerades. The most common of these is primary intraocular lymphoma or primary central nervous system lymphoma, occurring predominately in older individuals. Diagnostic strategies, therapy, and prognosis are reviewed in detail. Other conditions that can be considered masquerade syndromes are reviewed as well, including lymphomatous and nonlymphomatous conditions, such as melanoma, retinoblastoma, juvenile xanthogranuloma, metastatic lesions, and paraneoplastic syndromes, among others.

Central Nervous System Neoplasms↗

The polymerase chain reaction (PCR) in the routine genetic characterization of retinoblastoma: a tool for the clinical laboratory.

The Polymerase Chain Reaction (PCR) is a highly innovative technique which allows for the generation of large amounts of DNA starting from minute quantities obtained from the blood or tissue of a patient. With the increasing knowledge concerning the structure of the human genome and the potential to amplify specific segments of DNA by the PCR technique, the molecular genetic characterization of many ocular disorders has been greatly facilitated. This is particularly true of retinoblastoma (RB) where the causative gene, RB1, gene has been identified and characterized. Using PCR technique, specific sequences of the RB1 gene can be amplified and analyzed to precisely define the genetic mutation in an affected individual. In addition, this technique can also be applied in order to characterize the genetic defect within the tumor itself. In this report we illustrate the use of the PCR technique in the genetic characterization of the RB1 gene and its application to the study of RB. These techniques are applicable even in a small clinical laboratory and can be extended to a number of ophthalmic disorders.

Chromosome Mapping↗