7. Clinical characteristics and mutations of RB1 gene in unilateral retinoblastoma patients
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Abstract
Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is largely due to inactivating mutations of both alleles of the RB1 gene. Diagnosis of UNBVM is mainly based on clinical and subclinical conditions. This is a tumor that cannot be biopsied before enucleation due to the risk of spreading malignant cells, so imaging and genetic testing are important. In the rearch, 16 patients with unilateral retinoblastoma, the mean age of diagnosis was 26.3 ± 18 months. The most common first symptom was leukocoria (81.3%). The majority of patients had stage E disease (93.7%) and only 1 patient had a family history (6.3%). 56,3% patients with retinal detachment. 12/16 patients have mutations on the RB1 gene (75%), with a total of 14 different mutations, including mutations on exon (11/14) and splice site mutations (3/14). In 11 exon mutations, there are 10 point mutations (2 frameshift mutations, 7 nonsense mutations and 1 missense mutation), 1 deleted mutation with 01 novel mutation that has not been reported before.
Article Details
Keywords
retinoblastoma, RB1 gene mutation
References
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