Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis

Clinical Features and Long-term Prognosis of Retinoblastoma according to Age at Diagnosis

“…The mean and median ages at onset of sign or symptom were significantly younger in group 1 compared with group 2: 3.0 ± 0.7 vs. 29.2 ± 9.2 months; 3 months (interquartile range [IQR], 1-5 months) vs. 17 months (IQR, 14-27 months), respectively, with p < 0.001 for both comparisons. Similarly, the mean and median ages at diagnosis were also significantly younger in group 1 than in group 2 (4.0 ± 0.9 vs. 34.3 ± [16][17][18][19][20][21][22][23][24][25][26][27], respectively; p < 0.001 for both comparisons). The mean lag times until diagnosis were 1.0 ± 0.4 and 5.0 ± 2.1 months, respectively, for groups 1 and 2 ( p = 0.056).…”

“…Germline RB1 mutations are detected in around 90% of patients with bilateral and/or familial retinoblastoma and 10% of patients with non-familial unilateral retinoblastoma [16,17]. In recent studies, a combination of PCR-direct sequencing of all 27 exons and their intronic flanking regions of the RB1 gene along with MLPA to detect large deletions and duplications seems to be the conventional method [16,18,19], with a high detection rate of around 95% [19]. Although no single method is fully sensitive and efficient to detect RB1 mutations, most germline RB1 mutations are very small deletions, insertions, or point mutations [20], and therefore, direct sequencing is considered the single most useful method, with a detection rate around 70%.…”

Retinoblastoma genetics screening and clinical management

“…In the current era of cancer-care-NGS/MLPA techniques have revolutionised the genetic diagnostic scenario of RB-care globally and also selectively in India [22][23][24][25][26]. Incorporating genetic testing as part of RB-care has significant advantages-these opportunities and challenges are highlighted in the current study.…”

“…Any form of radiation for investigation (like X-ray, CT scan) or treatment has to be preferably avoided in all germline cases, due to probable increased risk of second malignancies. Besides North America and Germany, RB1 mutations have been reported from various populations around the world like, Argentina [10], Brazil [11], China [12,13], Colombia [14], Ecuador [15], Egypt [16], India [17][18][19][20][21], Iran [22], Israel [23,24], Italy [25], Korea [26], Netherlands [27], Spain [28,29], Malaysia [30], Mexico [31], Morocco [32], New Zealand [33], Pakistan [34], Swiss [35], Tunisia [36] Singapore [37] Thailand [38] and United Kingdom [39]. Out of five earlier studies from India, stratifying genetic tests is an option suggested by Thirumalairaj et al [40].…”

Retinoblastoma Mutational Screening in India: Opportunities and Challenges in Clinical Decisions and Genetic Counselling

“…The 8th AJCC has incorporated "H" or hereditary into the TNM staging of RB, thus envisaging the role of genetics in management -H1 carry the RB1 cancer-predisposing gene; H0 are tested and proven to have normal Rb alleles and HX carry unknown risk (55). In the current era of personalized medicine and cancercare accessibility, availability and reliability -NGS/MLPA techniques have revolutionised the genetic diagnostic scenario of RB-care globally and also selectively in India [22][23][24][25][26]. Incorporating genetic testing as part of RB-care has signi cant advantages -these opportunities and challenges are highlighted in the current study.…”