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PubMed2004

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

Constitutional mutations of the RB1 gene are associated with a predisposition to retinoblastoma. It is essential to identify these mutations to provide appropriate genetic counseling in retinoblastoma patients, but this represents an extremely challenging task, as the vast majority of mutations are unique and spread over the entire coding sequence. Since 2001, we have implemented RB1 testing on a routine basis as part of the clinical management of retinoblastoma. As most screening techniques do not meet the requirements for efficient RB1 testing, we have devised a semi-automated denaturing high-performance liquid chromatography (DHPLC) method for point mutation detection combined with a quantitative multiplex PCR of short fluorescent fragments (QMPSF) approach to screen for gene rearrangements. We report the results of this comprehensive screening of all exons and promoter of RB1 in 192 unrelated patients, mostly of French origin. Among 102 bilateral and/or familial cases and 90 unilateral sporadic probands, mutations were identified in 83 (81.5%) and 5 (5.5%) cases, respectively. A total of 43 mutations have not been previously reported. The mutational spectrum was found to be significantly different from previous published series, displaying a surprising amount of splice mutations and large deletions. This study demonstrates the reliability of DHPLC for RB1 analysis, but also illustrates the need for a deletion scanning approach. Finally, considering the benefits to retinoblastoma patients, RB1 testing should be widely implemented in routine healthcare because our study clearly illustrates its feasibility.

Child, Preschool↗
PubMed1997

High-dose chemotherapy with carboplatin, etoposide and cyclophosphamide followed by a haematopoietic stem cell rescue in patients with high-risk retinoblastoma: a SFOP and SFGM study.

This study investigates the role of high-dose chemotherapy with haematopoietic stem cell rescue as consolidation treatment in high-risk retinoblastoma (extraocular disease at diagnosis or relapse or invasion of cut end of optic nerve). 25 patients received high-dose chemotherapy including carboplatin (250 mg/m2/day from day 1 to day 5 for the 6 first patients and 350 mg/m2/day from day 1 to day 5 for the other patients), etoposide (350 mg/m2/day from day 1 to day 5) and cyclophosphamide (1.6 g/m2/day from day 2 to day 5) (CARBOPEC) followed by autologous haematopoietic stem cell rescue. 19 patients received this drug combination for chemosensitive extraocular relapse. The other 6 patients with histological high-risk factors were given this treatment as consolidation after enucleation and conventional chemotherapy. The three year disease-free survival was 67.1%. In 7 of the 9 relapsing patients, the first site of relapse was the central nervous system. All patients with central nervous system disease died except one. The main toxicity was haematological and digestive (mucositis and diarrhoea). 2 of the 13 evaluable patients had grade III and IV ototoxicity. One patient experienced an acute grade I reversible cardiotoxicity. The CARBOPEC regimen seems to be a promising therapeutic strategy in patients with high-risk retinoblastoma, especially those with bone and/or bone marrow involvement. This treatment did not improve the outcome of patients with central nervous system disease.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

[Hippel-Lindau disease].

Hippel-Lindau disease is one of inherited tumour susceptibility syndromes. The most common lesions are located in central nervous system, retina and visceral organs. In Poland the disease was rarely diagnosed although the prevalence is much higher than it was supposed and is estimated as 1: 30-50,000. It is inherited in an autosomal dominant manner with age related penetrance reaching almost 98% penetrance at the age of 60 and variable expression. The VHL gene is located near the tip of the short arm of chromosome 3 (3p25-26). Classical lesions in VHL patients are: haemangioblastomas of CNS, retina, cysts and clear cell carcinoma of kidney, cysts and tumours of pancreas, phaeochromocytoma and paraganglioma, papillary cystadenoma of epididymis and endolymphatic sac tumours. Multifocal, often bilateral lesions in form of benign cysts, vascular tumours or carcinomas occur. Management of the lesions often differs from that in sporadic cases of the tumours. Non-symptomatic lesions of CNS need no treatment, neither do non-symptomatic tumours of epididymis and some of phaeochromocytomas. Kidney carcinoma is treated when it reaches a certain size preferably by nephron-sparing surgery. Special care should be provided to pregnant VHL patients. Available DNA testing enables to identify VHL carriers. Although the mean age of death in VHL patients is 41 at the moment a proper prophylactic, diagnostic and treatment management can probably prolong survival of the patients and limit complications of the disease. The coordination between genetic consultants and clinicians is crucial in the management of the patients. The authors coordinate work of Polish VHL Registry and Polish VHL Association.

Adolescent↗
PubMed1979

Opticociliary veins in a primary optic nerve sheath meningioma.

A 59-year-old man developed painless visual loss in his left eye over a one-year period, with rapid progression to blindness over three months. Ocular examination of the left eye revealed proptosis, marked optic disk pallor, dilated retinal veins, and congeries of vessels at the disk margin (opticociliary veins). His right eye was unremarkable. Fluorescein angiography and histopathologic examination confirmed the presence of opticociliary veins communicating between branches of the central retinal vein and the adjacent choroidal vasculature. Primary orbital optic nerve meningioma associated with opticociliary veins was diagnosed.

Cranial Nerve Neoplasms↗
PubMed2004

Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.

PURPOSE: To develop an accurate mutation analysis procedure for retinoblastoma gene (RB1) mutation, which is sensitive at the single-cell level, and to use in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) to achieve pregnancies without retinoblastoma. DESIGN: Case report. METHODS: Twelve day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of a paternal RB1 mutation. Embryos were diagnosed as being unaffected and were transferred to the uterus on day 5. MAIN OUTCOME MEASURES: Achieving a healthy pregnancy and delivery, assessed by clinical presentation, fundus photography, and RB1 molecular analysis. RESULTS: A singleton pregnancy was achieved, and a child without retinoblastoma was born. The absence of the paternal RB1 mutation was confirmed on a sample of peripheral blood from the newborn. CONCLUSIONS: We are first to report a successful human liveborn, delivered after IVF with preimplantation genetic diagnosis for retinoblastoma. The successful result indicates that preimplantation genetic diagnosis exists for this genetic disease and may represent a viable alternative to prenatal diagnosis with the subsequent option of terminating an affected pregnancy.

Adult↗
PubMed1998

Induction of apoptosis in human retinoblastoma cells by topoisomerase inhibitors.

PURPOSE: To examine the apoptotic effect induced in human retinoblastoma Y79 cells by camptothecin, etoposide, and amsacrine, to examine the effect of these drugs on the expression of many apoptosis-related modulators, and to test the antiapoptotic effect exerted by insulin-like growth factor-I (IGF-I). METHODS: Morphologic features of apoptosis were demonstrated using acridine orange- ethidium bromide staining and electron microscopy. DNA fragmentation was determined by means of an in situ cell detection procedure (TdT-dUTP terminal nick-end labeling [TUNEL]) or by electrophoresis on agarose gels and was quantified by enzyme-linked immunosorbent assay. The expression of apoptosis-related modulators was studied by western blot analysis. The processing of latent p53 was examined by means of pulse- chase analysis. RESULTS: Camptothecin, etoposide, and amsacrine induced apoptosis in Y79 cells in a dose-dependent manner; camptothecin was the most efficacious compound. The effect, which was dependent on macromolecular synthesis, appeared after a lag of 8 hours and increased for as long as 24 hours. It was lower in cells treated with IGF-I, a potent mitogenic factor. Camptothecin and etoposide increased the p53 level after 4 hours of treatment, before the onset of apoptosis. This effect seemed to be a consequence of the conversion of latent p53 to one that is transcriptionally active. The drugs also induced an increase in p53-related proteins, such as p21, Bax, and IGF binding protein-3 (IGF-BP3), and caused a significant reduction of the Bcl-2 level. The latter effect was less evident in cells pretreated with IGF-I. CONCLUSIONS: Topoisomerase inhibitors induce apoptosis in Y79 cells. This event is accompanied by a decrease in the expression of Bcl-2, a death antagonist, and an increase in that of Bax, a death agonist. A probable consequence of these modifications is the activation of ICE-like activity with degradation of poly-(adenosine diphosphate [ADP] ribose)-polymerase. Insulin-like growth factor-I exerts an antiapoptotic action in Y79 cells, and this function is most likely reduced by the overexpression of IGF-BP3 that is induced by drug treatment.

Amsacrine↗
PubMed2005

Treatment planning with protons for pediatric retinoblastoma, medulloblastoma, and pelvic sarcoma: how do protons compare with other conformal techniques?

PURPOSE: To calculate treatment plans and compare the dose distributions and dose-volume histograms (DVHs) for photon three-dimensional conformal radiation therapy (3D-CRT), electron therapy, intensity-modulated radiation therapy (IMRT), and standard (nonintensity modulated) proton therapy in three pediatric disease sites. METHODS AND MATERIALS: The tumor volumes from 8 patients (3 retinoblastomas, 2 medulloblastomas, and 3 pelvic sarcomas) were studied retrospectively to compare DVHs from proton therapy with 3D-CRT, electron therapy, and IMRT. In retinoblastoma, several planning techniques were analyzed: A single electron appositional beam was compared with a single 3D-CRT lateral beam, a 3D-CRT anterior beam paired with a lateral beam, IMRT, and protons. In medulloblastoma, three posterior fossa irradiation techniques were analyzed: 3D-CRT, IMRT, and protons. Craniospinal irradiation (which consisted of composite plans of both the posterior fossa and craniospinal components) was also evaluated, primarily comparing spinal irradiation using 3D-CRT electrons, 3D-CRT photons, and protons. Lastly, in pelvic sarcoma, 3D-CRT, IMRT, and proton plans were assessed. RESULTS: In retinoblastoma, protons resulted in the best target coverage combined with the most orbital bone sparing (10% was the mean orbital bone volume irradiated at > or =5 Gy for protons vs. 25% for 3D-CRT electrons, 69% for IMRT, 41% for a single 3D lateral beam, 51% for a 3D anterolateral beam with a lens block, and 65% for a 3D anterolateral beam without a lens block). A single appositional electron field was the next best technique followed by other planning approaches. In medulloblastoma, for posterior fossa and craniospinal irradiation, protons resulted in the least dose to the cochlea (for only posterior fossa irradiation at > or =20 Gy, 34% was the mean cochlear volume irradiated for protons, 87% for IMRT, 89% for 3D-CRT) and hypothalamus-pituitary axis (for only posterior fossa irradiation at > or =10 Gy, 21% was the mean hypothalamus-pituitary volume irradiated for protons, 81% for IMRT, 91% for 3D-CRT); additional dose reductions to the optic chiasm, eyes, vertebrae, mandible, thyroid, lung, kidneys, heart, and liver were seen. Intensity-modulated radiotherapy appeared to be the second best technique for posterior fossa irradiation. For spinal irradiation 3D-CRT electrons were better than 3D-CRT photons in sparing dose to the thyroid, heart, lung, kidney, and liver. With pelvic sarcoma, protons were superior in eliminating any dose to the ovaries (0% of mean ovarian volume was irradiated at > or =2 Gy with protons) and to some extent, the pelvic bones and vertebrae. Intensity-modulated radiotherapy did show more bladder dose reduction than the other techniques in pelvic sarcoma irradiation. CONCLUSIONS: In the diseases studied, using various techniques of 3D-CRT, electrons, IMRT, and protons, protons are most optimal in treating retinoblastomas, medulloblastomas (posterior fossa and craniospinal), and pelvic sarcomas. Protons delivered superior target dose coverage and sparing of normal structures. As dose-volume parameters are expected to correlate with acute and late toxicity, proton therapy should receive serious consideration as the preferred technique for the treatment of pediatric tumors.

Adolescent↗
PubMed2002

Impaired expression and promotor hypermethylation of O6-methylguanine-DNA methyltransferase in retinoblastoma tissues.

PURPOSE: To investigate the role of epigenetic changes in the promoter region of tumor-suppressor genes in the retinoblastoma genome and to study the disruption of expression of O6-methylguanine-DNA Methyltransferase (MGMT) due to aberrant methylation and its association with retinoblastoma. METHODS: A series of 23 retinoblastoma tissue specimens and 2 retinoblastoma cell lines (Y79 and WERI-Rb1) were subjected to methylation-specific PCR (MSP) analysis of hypermethylated genes identified in human cancers, including p14(ARF), p15(INK4b), p16(INK4a), VHL, and MGMT. Further, the expression of MGMT was studied by immunohistochemistry and, when fresh tissue was available, by Western blot analysis and RT-PCR. RESULTS: Aberrant methylation of at least one MGMT locus was detected in 8 of the 23 tumors (35%), all of which (100%) had impaired or absent expression of MGMT. The remaining 15 tumor specimens were nonmethylated, and, among them, 7 (43%) showed defective expression. No methylation of tumor DNA was found on the p14(ARF), p15(INK4b), p16(INK4a), and VHL genes. Hypermethylation in the MGMT promoter was found to be prominently present in retinoblastoma with poor tissue differentiation, and was more frequently detected among patients with bilateral disease. Production of MGMT was consistent with expression of mRNA. No methylation of MGMT promoter was detected in the two retinoblastoma cell lines (Y79, WERI-Rb1). CONCLUSIONS: The data show a clear association between impaired production of MGMT and hypermethylation of the MGMT promoter, which appeared to relate to early onset and poor differentiation, suggesting that epigenetic silencing of MGMT by methylation of the promoter and reduced expression of MGMT may play an important role in the development and progression of retinoblastoma.

Blotting, Western↗
PubMed2002

Cloning and sequence analysis of light variable region gene of anti-human retinoblastoma monoclonal antibody.

PURPOSE: To clone the variable region gene of light chain of monoclonal antibody against human retinoblastoma and to analyze the characterization of its nucleotide sequence as well as amino acid sequence. METHODS: Total RNA was extracted from 3C6 hybridoma cells secreting specific monoclonal antibody (McAb) against human retinoblastoma (RB), then transcripted reversely into cDNA with olig-dT primers. The variable region of the light chain (VL) gene fragments was amplified using polymerase chain reaction(PCR) and further cloned into pGEM -T Easy vector. Then, 3C6 VL cDNA was sequenced by Sanger's method. Homologous analysis was done by NCBI BLAST. RESULTS: The complete nucleotide sequence of 3C6 VL cDNA consisted of 321 bp encoding 107 amino acid residues, containing four workframe regions (FRs) and three complementarity-determining regions(CDRs) as well as the typical structure of two cys residues. The sequence is most homological to a member of the Vk9 gene family, and its chain utilizes the Jkl gene segment. CONCLUSION: The light chain variable region gene of the McAb against human RB was amplified successfully, which belongs to the Vk9 gene family and utilizes Vk-Jkl gene rearrangement. This study lays a good basis for constructing a recombinant antibody and for making a new targeted therapeutic agents against retinoblastoma.

Amino Acid Sequence↗
PubMed2001

Clinicopathologic study of retinoblastoma including MIB-1, p53, and CD99 immunohistochemistry.

UNLABELLED: Retinoblastoma is the most common intraocular tumor of childhood and has served as a model for the understanding or tumorigenesis. This study retrospectively examines the clinicopathologic features of 19 retinoblastomas and defines the MIB-1 (cell proliferation marker), p53 (tumor suppression gene), and CD99 (HBA71 or MIC2 antibody) immunoreactivity in 10 selected cases. Nineteen patients (11 boys), ranging in age from 6 to 47 months (mean, 20 months), were included for study. Clinical presentations included: leukocoria (n = 12), strabismus (n = 6), apparent decreased visual acuity (n = 5), and proptosis (n = 1). Five patients had bilateral tumors and one neoplasm arose in a patient with a known family history of retinoblastoma. All tumors were histologically characterized by a proliferation of small cells with high nuclear-to-cytoplasmic ratios. Commonly encountered histologic features included necrosis (n = 17, 89%), calcification (n = 16, 84%), fleurettes (n = 14, 74%), and Flexner-Wintersteiner rosettes (n = 11, 58%). Retinal involvement was noted in 18 tumors (95%) and optic nerve invasion in six cases (32%). The surgical optic nerve margin was positive in one case. Mitosis counts were evaluable in 18 cases and ranged from 1 to 42 mitotic figures/10 high power field (mean, 13 mitotic figures/10 high power field). Ten tumors were evaluated with MIB-1, p53, and CD99 antibodies by paraffin immunohistochemistry. MIB-1 labeling indices ranged from 31.4 to 77.1 (mean, 49.4). p53 immunostaining was observed in six tumors; less than 10% of tumor cells were noted to be p53 positive in each case. CD99 positivity was demonstrable focally in three tumors. Adjuvant chemotherapy and/or radiation therapy was administered in six patients. Tumor recurrence was not observed in any of the patients with a mean follow-up of 8.9 years. Only one patient died (20 years after enucleation) because of metastatic osteosarcoma. IN CONCLUSION: (1) Fleurettes and Flexner-Wintersteiner rosettes are variable findings in retinoblastoma. (2) Retinoblastomas are characterized by marked cell proliferation as evidenced by generally high mitosis counts and extremely high MIB-1 labeling indices, but this does not appear to adversely impact on prognosis. (3) Unlike peripheral primitive neuroectodermal tumors, most retinoblastomas do not stain positively with antibody to CD99. (4) Limited p53 immunostaining was present in 60% of tumors studied. (5) Enucleation with negative optic nerve margin is potentially curative in patients with retinoblastoma.

12E7 Antigen↗
PubMed2004

Bilaterally identical monoclonality in a case of primary intraocular lymphoma.

PURPOSE: To report a case of primary intraocular lymphoma possessing bilaterally identical monoclonal rearrangements of the immunoglobulin heavy chain (IgH) gene. DESIGN: Observational case report. METHODS: A 78-year-old woman with bilateral vitritis, subretinal infiltrates in the right eye, and no involvement of the central nervous system (CNS) was diagnosed histologically with diffuse large B-cell lymphoma by a transvitreal subretinal biopsy of the right eye. One month later, vitrectomy was performed on the left eye due to increased vitreous opacity. DNA was extracted from a vitrectomy specimen from each eye, and the third complementarity-determining region of IgH gene was analyzed by polymerase chain reaction and direct sequencing. RESULTS: Monoclonal rearrangements of IgH gene with identical DNA sequence were detected in both eyes. CONCLUSIONS: Bilaterally identical monoclonality was detected in a case of primary intraocular lymphoma with no CNS involvement.

Aged↗
PubMed2001

Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.

BACKGROUND: Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome. Since the identification of the VHL gene, at least 3 clinical-genetic subtypes of the disease have been recognized. OBJECTIVES: To identify the specific abnormality in the VHL gene and to correlate it with the prevalence and severity of ocular involvement in a large family with VHL disease. METHODS: A longitudinal clinical study and DNA analysis of 24 family members. RESULTS: All 14 affected family members exhibited a thymine-to-cysteine change at nucleotide 505 (T505C) in exon 1 of the VHL gene, consistent with the clinical diagnosis of VHL disease subtype 2A. Two asymptomatic gene carriers were also identified. Seventy-five percent (12/16) of the gene carriers had 1 or more ocular angiomas. The mean number of ocular angiomas per gene carrier was 3.3. Six eyes had optic disc angioma. Five gene carriers (31%) had lost vision because of angiomatosis. Cerebellar hemangioblastomas were present in 4 patients (25%) and pheochromocytomas in 11 (69%). No patient was found to have a renal cell carcinoma. CONCLUSIONS: The family shows a low susceptibility to renal carcinoma consistent with the clinical diagnosis of VHL disease type 2A. The prevalence and severity of ocular angiomatosis in this subtype do not significantly differ from those of the other more common subtypes of VHL. Recognition of the VHL disease 2A phenotype suggests the presence of a specific mutation (T505C) in the VHL gene. Confirmation of this genotype increases the clinician's ability to provide favorable prognostic information to affected family members.

Adrenal Gland Neoplasms↗
PubMed1998

Herpes simplex encephalitis and bilateral acute retinal necrosis syndrome after craniotomy.

PURPOSE: Acute retinal necrosis (ARN) syndrome is associated with members of the herpes virus family, but the mechanisms of infection remain unclear. The purpose of this study is to report a unique case of acute retinal necrosis syndrome associated with herpetic encephalitis in order to elucidate possible factors involved in herpetic central nervous system disease. METHOD: Case report. RESULTS: A 64-year-old woman who developed acute herpes simplex virus encephalitis associated with bilateral acute retinal necrosis syndrome after craniotomy for resection of a suprasellar craniopharyngioma is presented. The results of lumbar puncture, magnetic resonance imaging, and ophthalmologic examination are consistent with herpetic infection. The origin of acute retinal necrosis syndrome and the association of acute retinal necrosis syndrome with encephalitis are reviewed. CONCLUSIONS: After craniotomy, we hypothesize reactivation of previously latent herpes simplex virus in the area of the inferior frontal lobe and optic chiasm. Reactivated virus may have migrated to the retina by axonal transport, through the optic nerves, to produce the acute retinal necrosis syndrome.

Acyclovir↗
PubMed1991

Hypertensive retinopathy caused by a rare ovarian tumor: case report and photo essay.

A 38-year-old female presented for an optometric exam complaining that her "vision had occasionally gone blank while reading during the past 2 months". Although visual acuity was 20/20 in both eyes, hypertensive retinopathy was present in both eyes. Blood pressure was measured to be 210/142. After inadequate response to initial treatment, her family physician referred her to an internist. Ultimately, a four pound Sertoli-Leydig ovarian tumor was found to be causing malignant hypertension. Removal of the tumor and medical treatment of the hypertension cleared the hypertensive retinopathy within 4 months. Prompt optometric care led to the timely discovery of this tumor, and probably prolonged this woman's life. This case illustrates the valuable role optometric care can have in the management of hypertension from any cause. Coordination with the primary physician as to the status of the hypertensive retinopathy is an integral part of the total management. Retinal photographs at presentation and at various stages of treatment dramatically show how the level of fundus pathology is related to the level of hypertension.

Adult↗
PubMed2005

Molecular analysis of immunoglobulin genes in primary intraocular lymphoma.

PURPOSE: To analyze somatic hypermutations in clonally rearranged IgH chain variable (V) genes of primary intraocular lymphoma (PIOL), to identify the differentiation stage of B-PIOL cells. METHODS: Sixteen cases of PIOL were diagnosed on the basis of morphology and immunohistology. In six patients, simultaneous cerebral lymphomatous involvement was known; stereotactic biopsy specimens were investigated in three cases. A polymerase chain reaction (PCR) was performed on DNA extracted from vitrectomy specimens or from paraffin-embedded sections, to amplify the clonally rearranged heavy-chain immunoglobulin (IgH) genes. The isolated PCR products were sequenced and compared with published VH germ-line segments to determine the VH usage and number of somatic mutations in the complementarity-determining region (CDR)2 and framework region (FR)3. RESULTS: All tumors exhibited clonal IgH rearrangements. Of the eight sequenceable cases, four had the VH4-34 gene segment, two the VH3-23, one the VH3-7, and another the VH3-30. The pattern of somatic mutations indicated selection of PIOL cells for expression of a functional antibody. The mean frequency of somatic mutations detected for the IgH gene was very high (14.5%). In three oculocerebral lymphomas, the identical B-cell clone was demonstrated in ocular and cerebral tissues. CONCLUSIONS: The data suggest that PIOLs (1) are derived from mature B-cells that have undergone the germinal center reaction and (2) are closely related to primary cerebral nervous system lymphoma (PCNSL), due to their high mutation frequency of VH region genes. The close relationship between PIOL and PCNSL is underlined by demonstration of the same VH segment (VH4-34) in three of six cases of oculocerebral lymphoma.

Adult↗
PubMed2006

Evaluation of a comparative pathogenesis between cancer-associated retinopathy in humans and sudden acquired retinal degeneration syndrome in dogs via diagnostic imaging and western blot analysis.

OBJECTIVE: To evaluate dogs with sudden acquired retinal degeneration syndrome (SARDS) for evidence of pituitary gland, adrenal gland, and pulmonary neoplasia and antiretinal antibodies and to evaluate dogs with neoplasia for antiretinal antibodies. ANIMALS: 57 clinically normal dogs, 17 with SARDS, and 53 with neoplasia. PROCEDURE: Thoracic radiography, ultrasonography of adrenal glands, and contrast-enhanced computed tomography of pituitary glands were performed in 15 dogs with SARDS. Western blot analysis was performed on sera of all dogs; recoverin (23 kd) and arrestin (48 kd) retinal antibodies were used as positive controls. RESULTS: Neoplasia was not detected via diagnostic imaging in dogs with SARDS. Western blot analysis revealed bands in all dogs ranging from > 48 to < 23 kd. Prominent bands with equivalent or greater density than 1 or both positive controls at the 1:1,000 dilution, and present at the 1:3,000 dilution, were detected in 28% of clinically normal dogs, 40% of dogs with neoplasia, and 41% of dogs with SARDS. No bands in dogs with SARDS had a consistent location of immune activity, and none were detected at the 23-kd site. The area around the 48-kd site had increased immune activity in all 3 groups. CONCLUSIONS AND CLINICAL RELEVANCE: The etiology of SARDS in dogs does not appear to be similar to cancer-associated retinopathy in humans on the basis of absence of differential antibody activity against retinal proteins. Although dogs with SARDS often have clinical signs compatible with hyperadrenocorticism, neoplasia of the adrenal glands, pituitary gland, or lungs was not detected.

Acute Disease↗
PubMed2003

Evaluation of vitrectomy specimens and chorioretinal biopsies in the diagnosis of primary intraocular lymphoma in patients with Masquerade syndrome.

PURPOSE: To correlate the histopathological diagnoses established by diagnostic vitrectomy and chorioretinal biopsy in patients with clinically suspected primary intraocular lymphoma (PIOL) or chronic idiopathic uveitis, and the clinical follow-up data. METHODS: Eighty-four consecutive pars plana vitrectomy (PPV) specimens, three chorioretinal biopsies and two enucleated eyes taken from 80 patients were evaluated. All PPV specimens were unfixed; these were centrifuged, the "cytospins" being stained conventionally (May-Grünwald-Giemsa) and using immunocytology (CD79a, CD3, CD68, immunoglobulin (Ig) light chains). An extended immunohistochemical panel, as well as polymerase chain reaction (PCR) for rearrangements of the Ig heavy chain gene (IgH-PCR), were used to investigate the chorioretinal biopsies and the enucleated eyes. Diagnoses, made on the basis of morphology and immunophenotype, included "reactive cellular infiltrate", "malignant lymphoma", "suspicious of neoplastic disease", and "insufficient for diagnosis". The corresponding clinical data were collected and compared with the diagnosis. RESULTS: The 80 patients consisted of 46 women and 34 men. The patients' age range varied from 21 to 100 years (mean age 62 years). Sixty-two (74%) of the 84 vitrectomy specimens were diagnosed as "reactive cellular infiltrate", 12 (14%) as definite "malignant lymphoma", 5 (6%) as "suspicious of neoplastic disease" and 5 (6%) specimens were considered "insufficient for diagnosis". An additional chorioretinal biopsy enabled an unequivocal diagnosis of PIOL to be reached in 3 patients. All PIOL were diffuse large cell B-cell lymphoma (DLBCL), with the immunophenotype CD79+, CD20+, BCL-2+, BCL-6+, MUM1+ and monotypical expression for IgM+. A monoclonal IgH-PCR amplification product was obtained in four vitrectomy specimens, two chorioretinal biopsies and one of the enucleated eyes. Comparison of the diagnoses with long-term follow-up clinical data resulted in concordance in 77 (96%) cases and discrepancies ("false-negative" diagnoses) in 3 patients (4%). The patients diagnosed with lymphoma were treated with either radiotherapy, chemotherapy or both. At final follow-up (mean 35 months), 5 patients (6%) had developed cerebral lymphomatous manifestation, and 7 (9%) had succumbed to their disease. CONCLUSION: The diagnosis of PIOL is often extremely difficult, requiring sufficient rapidly transported good-quality material, and experienced interpretation. Although cytological examination of vitreal aspirates remains the gold standard in diagnosis, examination of chorioretinal biopsies increase the reliability of diagnosing or excluding a PIOL that involves the retina or choroid. Most PIOL are DLBCL with an immunophenotype suggesting a cellular origin from germinal centre cells.

Adult↗