+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on LinkedInFollow on LinkedIn

+ Translate

RB1 gene mutations in retinoblastoma and its clinical correlation

RB1 gene mutations in retinoblastoma and its clinical correlation

Saudi Journal of Ophthalmology 24(4): 119-123

To find correlation between the type of mutations observed and the severity of the disease using multiple techniques like polymerase chain reactions (PCR), quantitative multiplex PCR, sequencing and RNA analysis. Prospective, observational study. Patients who had been screened for mutations in the RB1 gene were included in the study. Patient details including demographic data; age and sex, laterality, international classification of intraocular retinoblastoma (ICIOR) staging, modality of management, histopathology high risk factors if the eyes were enucleated and metastasis rate were assessed. Seventy four patients were studied. Fifty three patients had bilateral and 21 unilateral disease. Complete genetic data was analyzed for 74 patients and complete clinical correlation was established for all the 49 patients with mutations. Of the total mutations identified, 11/49 (22.4%) of patients had large deletions, 12/49 (24.5%) had small deletions or insertions, 14/49 (28.6%) had nonsense mutations, 7/49 (14.3%) had splice mutations and 5/49 (10.2%) of patients had missense mutations. Four cases were familial. Group E ICIOR stage at presentation was noted in 40% of patients with large deletions, 33% with small deletions whereas 38.5% with splice mutations and 44.4% of patients with missense mutations presented with Group B ICIOR. Twenty five percentages of eyes with large deletions had high risk features on histopathology and one patient among these developed metastasis. Current laboratory testing of RB1 mutations may be feasible in determining the severity of the disease and patient counseling. The study provides a starting point for looking at correlations.

(PDF emailed within 0-6 h: $19.90)

Accession: 055333561

Download citation: RISBibTeXText

PMID: 23960888

DOI: 10.1016/j.sjopt.2010.05.003

Related references

Abnormal expression of the retinoblastoma gene in ovarian neoplasms and correlation to p53 and K-ras mutations. Gynecologic Oncology 58(3): 307-311, 1995

Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma. Human Mutation 3(1): 44-51, 1994

Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening. Ophthalmology 105(8): 1442-1447, 1998

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Human Mutation 25(6): 566-574, 2005

Metallothionein, PCNA, p53 and retinoblastoma gene product expression in small cell carcinoma of lung Correlation with clinical outcome. Laboratory Investigation 78(1): 176A, 1998

Retinoblastoma gene deletion in chronic B-cell leukemias detected by FISH Incidence and correlation with clinical parameters in 100 patients. Blood 84(10 SUPPL 1): 297A, 1994

Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. Human Mutation 12(6): 434-434, 2000

Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations. Cancer Biomarkers 4(2): 93-99, 2008

RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations. Cancer Genetics 204(6): 316-322, 2011

Prognostic factors for fibromatoses: a correlation of proliferation index, estrogen receptor, p53, retinoblastoma, and src gene products and clinical features with outcome. Journal of Surgical Oncology 65(2): 117-122, 1997

p53 gene mutations in non-small-cell lung cancer cell lines and their correlation with the presence of ras mutations and clinical features. Oncogene 7(1): 171-180, 1992

Clinical value of analysis of the retinoblastoma gene in patients with retinoblastoma and their relatives. Investigative Ophthalmology & Visual Science 38(4 PART 1-2): S486, 1997

Cystic fibrosis gene mutations, and correlation with clinical manifestations. Pathologie-Biologie 39(6): 582-584, 1991

An atypical carcinoid tumor of the lung with mutations in the p53 gene and the retinoblastoma gene. Chest 104(5): 1606-1607, 1993

Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 15(2): 65-68, 1998