National Cancer Institute®
Last Modified: May 1, 2002
UI - 11907476
AU - Karcioglu ZA; Abboud EB; Al-Mesfer SA; Al-Rashed W; Pilapil DH
TI - Retinoblastoma in older children.
SO - J AAPOS 2002 Feb;6(1):26-32
AD - King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
PURPOSE: Retinoblastoma (RB) is known to present with atypical signs and symptoms in older patients. Our article reviews the clinical and histopathological features of RB encountered in children older than 5 years of age. Methods: A total of 337 consecutive patients with RB were reviewed. Eighteen (5.3%; 10 males, 8 females) who presented after the age of 5 were selected for further analysis of clinical data and histopathological material in this retrospective, non-comparative case series. Results: The age range was from 5 to 12 years (mean age 6.4). Unilateral disease was seen in 14 children, bilateral disease in 4 children. Eleven children were the product of consanguineous marriages. Seven patients had leukocoria; the others presented with signs of uveitis, cellulitis, and/or trauma. Three patients had flat, plaque-like lesions on histopathologic evaluation. Conclusions: Clinical and histopathologic features were atypical in 47% and 21% respectively in the retinoblastoma patients who presented after the age of 5 years.
UI - 11886418
AU - Tatlipinar S; Soylemezoglu F; Kiratli H; Bilgic S
TI - Quantitative analysis of apoptosis in retinoblastoma.
SO - Clin Experiment Ophthalmol 2002 Apr;30(2):131-5
AD - Ocular Oncology Service, Department of Ophthalmology, Hacettepe School of Medicine, Hacettepe University, Ankara, Turkey.
PURPOSE: The rate of apoptosis in retinoblastoma (Rb) and the factors that may influence this rate, such as therapy prior to surgery, amount of necrosis in tumour tissue, differentiation and laterality of the tumour, were investigated. METHODS: Thirty-one specimens (25 enucleation, six exenteration) with Rb were studied. Prior to final surgery, three patients received systemic chemotherapy, one intravitreal chemotherapy, one transpupillary thermotherapy, one external beam radiotherapy and one high-dose oral methylprednisolone therapy. The apoptotic index (AI,%) was calculated by counting at least 1000 cells under light microscopy (x 100) using TUNEL (terminal deoxynu-cleotidyl transferase-mediated dUTP nick-end labelling) method. RESULTS: The mean AI was 2.75 plus minus 1.2. No statistically significant association was observed between rate of apoptosis and the presurgical treatment, extent of necrosis, tumour differentiation and laterality. CONCLUSION: Apoptosis is an important mechanism of cell death, and may be a limiting factor for tumour progression. In this study, the rate of apoptosis was not affected by any of the studied parameters.
UI - 12011162
AU - Lefevre SH; Chauveinc L; Stoppa-Lyonnet D; Michon J; Lumbroso L; Berthet
TI - P; Frappaz D; Dutrillaux B; Chevillard S; Malfoy B A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma.
SO - J Med Genet 2002 May;39(5):E21
UI - 11919466
AU - Acikbas I; Keser I; Kilic S; Bagci H; Karpuzoglu G; Luleci G
TI - Detection of LOH of the RB1 gene in bladder cancers by PCR-RFLP.
SO - Urol Int 2002;68(3):189-92
AD - Department of Medical Biology, Faculty of Medicine, Pamukkale University, Denizli, Turkey. firstname.lastname@example.org
OBJECTIVES: Retinoblastoma (RB1) gene involves in retinoblastoma, osteosarcoma, bladder, prostate, lung, breast carcinomas, and soft tissue sarcomas. Loss of heterozygosity (LOH) is the most common mutation of the gene. METHODS: Xba I polymorphism in intron 17 of the gene was used to detect LOH in 20 bladder cancer patients. A cystitis and an osteosarcoma were used as control. LOH was investigated in three different kinds of samples (blood, paraffin-embedded tissue and fresh tissue) belonging to the same patients, and 20 blood samples, 20 paraffin-embedded tissue samples and 16 fresh tissue samples were obtained from 20 cancer patients. RESULTS: None of the 20 blood samples showed LOH. Eleven out of 20 paraffin-embedded bladder tissues were amplified, 3 of them homozygous and all 8 informative paraffin-embedded tissues showed LOH. Five out of 16 fresh tumor tissues obtained were amplified, in 1 the fresh tissue was normal, 1 fresh tissue showed LOH and 3 were not digested by Xba I. CONCLUSION: The results of the study have suggested that detection of LOH of the RB1 gene by PCR-RFLP can be a good adjunctive test for evaluation of the bladder cancer. Copyright 2002 S. Karger AG, Basel
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