Objective: This study correlated the patterns of ocular B- and A-scans of intraocular retinoblastoma (RB) with corresponding histopathology sections. It aimed to establish a more objective basis for determining intraocular retinoblastoma by ultrasonography (UTZ) and to determine the degree of malignancy and viability of the tumor cells. Methods: New cases of retinoblastoma seen at the University of the Philippines-Philippine General Hospital (UP-PGH) from January 1994 to December 2003 were reviewed. Included were patients who underwent enucleation and whose eyeballs were processed at the UP Institute of Ophthalmology. Those with good quality ocular ultrasonographs (UTZ) and clear matching histopathologic sections were finally selected. Findings were correlated and analyzed.Results: Retinoblastoma (RB) showed multiplicity of lesions on UTZ corresponding to multiple lesions on histopathology. The following characteristic patterns were seen: Very malignant RB or pseudorosettes: fine, grainy densities on B-scan with short to medium broad spikes on A-scan ("V-W" pattern). Moderate differentiation with moderate necrosis and early calcific plaques: fine, dense grainy opacities on B-scan with multiple thin, high spikes admixed with tall, broad spikes of calcium deposits on A-scan. Well-differentiated RB with compact viable cells and no necrosis: large, white densities on B-scan with an initial high spike and high internal reflectivity, sometimes "plateauing," on A-scan with no calcific deposits. Complete tumor necrosis with calcific plaques: echolucent space with dense, white, plaque-like opacities on B-scan; flat or low spikes mixed with tall, broad spikes corresponding to calcium plaques on A-scan. Normal vitreous, serous subretinal fluid, or recent hemorrhage: echolucent area on B-scan with flat or low spikes on A-scan. Conclusion: The three most frequent findings in intraocular retinoblastoma were calcific plaques with liquefaction necrosis, multiplicity of lesions, and pseudorosettes. Ocular ultrasound of retinoblastoma showed good histopathologic correlation.
Human ; RETINOBLASTOMA ; ULTRASONOGRAPHY ; RETINAL NEOPLASMS ; RETINAL DISEASES ; EYE DISEASES ; PATHOLOGY

Retinoblastoma (RB) is the most common intraocular malignant tumor in infants and young children. The key causative factors in the progression of RB remain unclear. Therefore, identifying genes closely associated with RB progression may provide important clues for disease diagnosis and gene therapy. However, tumor tissues have strong cellular heterogeneity. There may be significant differences in cell function and gene expression among cells in different pathological states. In this study, we downloaded single-cell transcriptome sequencing data of RB tumors and adjacent tissues from the GEO public database. Subsequently, we analyzed RB tumor transcriptional profiles with different disease duration at the single-cell level and identified cell groups and gene sets potentially associated with RB progression. The results showed that the tumor tissue and the adjacent tissues had overall consistency in the single-cell transcriptional map, but there were obvious differences in the distribution proportions of G1 phase cells, G2 phase cells, and microglia cells of cone precursors in RB tumor and the adjacent tissues. Furthermore, the role of three cell populations in the progression of RB tumors was emphatically analyzed. We found that in the early stage of RB tumors, cone precursor cells proliferated abnormally in G1 phase. With the progression of RB tumors, the proportion of cone precursor cells in G2 phase increased significantly. Meanwhile, the results of differential analysis of microglial populations during RB progression showed that the key genes mainly involved in immune response include RPL23, B2M, and HLA superfamily genes. This study provides new perspectives and data resources for the research of RB pathogenesis and progress.
Child ; Infant ; Humans ; Child, Preschool ; Retinoblastoma/pathology* ; Transcriptome ; Retinal Neoplasms/pathology*

Trilateral retinoblastoma is a rare, but well recognized syndrome. These tumors usually occur in the pineal, parasellar, or suprasellar regions several years after successful management of ocular retinoblastomas without evidence of direct extension or distant metastasis. Here we report a case of trilateral retinoblastoma presenting initially with a sellar tumor and with concurrent unilateral retinoblastoma. The patient was a 5-month-old baby girl showing poor eye contact and nystagmus for several days. She had no family history of retinoblastoma. Brain MRI revealed a midline suprasellar tumor without evidence of cerebrospinal fluid seeding or extracranial metastasis. A pathologic diagnosis of retinoblastoma was made for her brain tumor, and a small, intraocular retinoblastoma was detected in the left eye by thorough examination of the fundus. If a retinoblastoma occurs in the midline of the brain, including the pineal and sellar regions, a careful screening to detect any additional retinal tumors should be performed. Moreover, since these tumors are often hereditary and harbor a worse prognosis, the diagnosis has implications for genetic counseling. This is the first report on a case of trilateral retinoblastoma in Korea presented with a sellar mass.
Brain/*pathology/radiography ; Brain Neoplasms/pathology/radiography/*secondary/surgery ; Female ; Humans ; Infant ; Retinal Neoplasms/*pathology/radiography/surgery ; Retinoblastoma/pathology/radiography/*secondary/surgery

Antineoplastic Agents, Alkylating ; administration & dosage ; Child ; Humans ; Intravitreal Injections ; Male ; Melphalan ; administration & dosage ; Neoplasm Seeding ; Retinal Neoplasms ; drug therapy ; pathology ; Retinoblastoma ; drug therapy ; pathology ; Vitreous Body ; pathology

OBJECTIVETo study the effect on promoter de-methylation, expression of ALDH1a2 gene and cell apoptosis by treated with 5-Aza-dC and TSA in five human bladder cancer cell lines.

METHODSHuman bladder cancer cell lines RT-4, 253J, 5637, BIU-87 and T24 were cultured and treated with 5-Aza-dC and(or) TSA. The expression of the ALDH1a2 gene was detected by RT-PCR and Western blot. The methylation status of gene promoter was determined by MSP, and the cell cycle profile was established by flow cytometry.

RESULTSALDH1a2 was silenced in five human bladder cancer cell lines. Re-expression of ALDH1a2 was detected after treated with 5-Aza-dC alone or TSA in combination. ALDH1a2 transcript was marked in each cell lines combined with 5-Aza-dC and TSA treatment which showed a synergistic effect on expression of ALDH1a2 transcript. Early apoptotic was the main mode of apoptosis and death of human bladder cancer cell lines induced by 5-Aza-dC and TSA. The percentage of early apoptotic cells was 1.4% in control group and 2.8% in TSA group, however, 20.2% in 5-Aza-dC group and 33.8% in 5-Aza-dC + TSA group, respectively. The groups of TSA, 5-Aza-dC and 5-Aza-dC + TSA were significantly different from control group (P < 0.05).

CONCLUSIONSAberrant methylation of ALDH1a2 gene is the main cause for gene transcriptional inactivation. Re-expression of ALDH1a2 gene and cell apoptosis are detected after either treatment with 5-Aza-dC alone or in combination with TSA.

Apoptosis ; drug effects ; Azacitidine ; pharmacology ; Cell Line, Tumor ; Gene Expression Regulation, Neoplastic ; Humans ; Hydroxamic Acids ; pharmacology ; Retinal Dehydrogenase ; metabolism ; Urinary Bladder Neoplasms ; metabolism ; pathology

PURPOSE: To report a case of cancer-associated nummular loss of the retinal pigment epithelium. METHODS: A 47-year-old man with a history of hepatocellular carcinoma presented with three weeks of bilateral visual loss. His best-corrected visual acuity was 20/40 in each eye. He had multiple round confluent grayish-brown patches at the level of retinal pigment epithelium, and no pigmented choroidal lesions. Fluorescein angiography showed circular areas of transmission defect and indocyanine green angiography showed early hyperfluorescence, corresponding with the multiple round confluent patches. CONCLUSIONS: We report a case of visual paraneoplastic syndrome which showed nummular loss of the pigment epithelial cells which distinguishes the clinical component of BDUMP syndrome.
Carcinoma, Hepatocellular/*pathology ; Diagnosis, Differential ; Fatal Outcome ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Liver Neoplasms/*pathology ; Male ; Middle Aged ; Paraneoplastic Syndromes/*diagnosis ; Pigment Epithelium of Eye/*pathology ; Retinal Diseases/*diagnosis ; Tomography, Optical Coherence

PURPOSE: Recent reports suggest the association of human papilloma virus (HPV) with retinoblastoma. This study was performed to elucidate whether HPV infection is related to retinoblastoma among Koreans. METHODS: A total of 54 cases diagnosed with retinoblastoma were enrolled from Seoul National University Children's Hospital and Seoul Metropolitan Government-Seoul National University Boramae Medical Center. Presence of human papilloma viral DNA was detected by in situ hybridization in formalin-fixed paraffin-embedded retinoblastoma tissues using both probes against high- and low risk HPV types. RESULTS: The mean age at diagnosis was 22.0 months (range, 1.1 to 98.0 months), and the mean age at enucleation was 27.8 months (range, 1.5 to 112.7 months) among the 54 patients with retinoblastoma. HPV was not detected in any of the retinoblastoma samples using either high risk or low risk HPV probes. CONCLUSIONS: Our study, being the first study in the Korean population, proposes that HPV infection may have no causal relationship with retinoblastoma in Koreans.
Child, Preschool ; DNA, Viral/*analysis ; Eye Infections, Viral/complications/diagnosis/*epidemiology ; Female ; Humans ; In Situ Hybridization ; Incidence ; Infant ; Male ; Papillomaviridae/*genetics ; Papillomavirus Infections/complications/diagnosis/*epidemiology ; Prevalence ; Prognosis ; Republic of Korea/epidemiology ; Retinal Neoplasms/complications/pathology/*virology ; Retinoblastoma/pathology/*virology

OBJECTIVE: To explore the effect of arsenic trioxide on the apoptosis of retinoblastoma cell line HXO-RB(44) and the possible mechanism. METHODS: The effect of arsenic trioxide on the proliferation of retinoblastoma cell line HXO-RB(44) was observed by MTT colorimetric assay; the apoptosis of the HXO-RB(44) was examined by AO/EB staining and flow cytometry analysis (Annexin V+ PI staining); caspase-3 activity and bcl-2/bax expression in the HXO-RB(44) were detected by cpp32 colorimetric assay kit and Western blot. RESULTS: Arsenic trioxide inhibited the proliferation of HXO-RB(44) cell in dose and duration-dependent manner in vitro; arsenic trioxide significantly increased the apoptosis in HXO-RB(44) cells. The activation of caspase-3 was increased, and the rate of bcl-2/bax was down-regulated in the HXO-RB(44) cells processed with arsenic trioxide. CONCLUSION Arsenic trioxide can inhibit the proliferation of retinoblastoma cell HXO-RB(44) in vitro by apoptosis induction. The apoptosis induction is possibly related to the caspase-3 activation and bcl-2/bax down-regulation.
Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Arsenic Trioxide ; Arsenicals ; pharmacology ; Caspase 3 ; biosynthesis ; Humans ; Oxides ; pharmacology ; Proto-Oncogene Proteins c-bcl-2 ; biosynthesis ; Retinal Neoplasms ; pathology ; Retinoblastoma ; pathology ; Tumor Cells, Cultured ; bcl-2-Associated X Protein ; biosynthesis

OBJECTIVETo investigate the factors regarding the recovery of postoperative blood pressure of aldosterone producing adenoma (APA) patients.

METHODSSixty-eight patients with APA were recruited and their data including retinal blood vessel by Doppler sonography, urinary trace albumin, pathological changes of renal biopsy and the adrenal tissues around the adenoma were analyzed in order to determine the correlation between these data and postoperative durative hypertension.

RESULTSPostoperative durative hypertension occurred in 14 cases (41.2%) with increased resistance of unilateral or bilateral central artery of retina, in 16 cases (66.7%) with increased level of urinary trace albumin. Fifteen cases underwent renal biopsy and all of them showed different pathological alterations, 11 cases (73.3%) of which presented with postoperative durative hypertension. The pathological changes of the adrenal tissues around the adenoma is either atrophy or non-atrophy (normal or hyperplasia), 8 cases (40%) and 10 cases (22.2%) of which showed postoperative durative hypertension, respectively.

CONCLUSIONThe renal pathological changes and increased resistance of retinal blood vessel are the main reasons leading to postoperative hypertension in patients with APA.

Adolescent ; Adrenal Cortex Neoplasms ; physiopathology ; surgery ; Adrenal Glands ; pathology ; Adrenocortical Adenoma ; physiopathology ; surgery ; Adult ; Blood Pressure ; physiology ; Female ; Humans ; Hyperaldosteronism ; etiology ; physiopathology ; surgery ; Hypertension ; etiology ; Kidney ; pathology ; Male ; Middle Aged ; Postoperative Period ; Retinal Artery ; physiopathology ; Retrospective Studies ; Vascular Resistance ; physiology

INTRODUCTIONMushroom-shaped choroidal melanoma is known to be associated with breaks in Bruch's membrane and is more likely to develop when Bruch's membrane is diseased. The study's goal is to determine if diseases causing breaks in Bruch's membrane predispose a choroidal melanoma to develop into a mushroom-shaped melanoma.

MATERIALS AND METHODSA retrospective review of cases of choroidal melanoma seen at our institution was carried out to determine if mushroom-shaped melanomas are more common than dome-shaped tumours in patients with macular abnormalities involving a loss of Bruch's membrane integrity. Forty-nine eyes of 48 patients were included in this retrospective study. A dome-shaped or mushroom-shaped configuration was assigned to each tumour. Macular degeneration, macular drusen, retinal pigment epithelial (RPE) stippling, macular oedema, choroidal neovascularisation (CNV), angioid streaks, disciform scars, lacquer cracks, and myopia greater than -3.00 D, were considered to constitute evidence of potential Bruch's membrane breaks and were determined in both eyes. A chi-square evaluation was used to compare the proportion of eyes with macular abnormalities in the 2 tumour configuration groups.

RESULTSThe tumour was dome-shaped in 40 eyes (82%) and mushroom-shaped in 9 eyes (18%). Macular abnormalities, indicative of loss of Bruch's membrane integrity, were seen in 21 (53%) of 40 eyes with dome-shaped melanomas and 5 (56%) of 9 eyes with mushroom-shaped melanomas. The proportion of eyes with macular abnormalities was not statistically different between the dome-shaped and mushroom-shaped tumours, as assessed by chi-square analysis (P = 0.87).

CONCLUSIONSBruch's membrane disease does not influence the differentiation of choroidal melanoma into mushroom-shaped or dome-shaped tumour growth patterns.

Adult ; Aged ; Aged, 80 and over ; Bruch Membrane ; abnormalities ; Chi-Square Distribution ; Choroid Neoplasms ; epidemiology ; pathology ; Comorbidity ; Female ; Humans ; Male ; Melanoma ; epidemiology ; pathology ; Middle Aged ; Retinal Diseases ; epidemiology ; Retrospective Studies ; Visual Acuity