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Background This study determined to probe the potential association between somatic copy number alteration (SCNA) in retinoblastoma (RB) aqueous humour (AH) and pathological high-risk factors, clinical features and previous chemotherapy history. Methods Single-centre retrospective cohort study from including 58 AH samples collected from 58 patients diagnosed. Among them, 41 samples were collected after enucleation and 17 samples were collected before intravitreal chemotherapy. SCNAs were accessed by conducting shallow whole-genome sequencing in cell-free (cf) DNA of AH. HRs and ORs were applied to measure risk factors. Results Canonical RB SCNAs including 1q gain (87%), 2p gain (50%), 6p gain (76%), 16q loss (69%) were frequently detected. Non-classical RB SCNAs in AH including 17q gain (53%), 19q loss (43%), 7q gain (35%) were also commonly observed. 19q loss was significantly more common in patients with cT3c or worse stage than others (p=0.034). 2p gain(p=0.001) and 7q gain(p=0.001) were both more common in patients with primary enucleation than those with previous chemotherapy. Interestingly, both 2p gain (HR=1.933, p=0.027) and 7q gain (HR=2.394, p=0.005) might predict enucleation. Correlation analysis with pathological features among enucleated eyes showed that 19q loss can predict a higher risk for both massive choroid invasion (OR=4.909, p=0.038) and postlaminar optic nerve invasion (OR=4.250, p=0.043). Discussion Sequencing of AH cfDNA in RB can provide sufficient in vivo information. 19q loss was a potential signature of advanced cases clinically and pathologically. Repeated sampling from eyes receiving sequential chemotherapy should be conducted to evaluate fluctuation of SCNA in future study. [ABSTRACT FROM AUTHOR]

Background Metastasis dominates the prognosis of eyelid sebaceous carcinoma (SC). This study aimed to explore risk factors for nodal metastasis and develop a nomogram to predict nodal metastasis in patients with eyelid SC. Methods A retrospective case-control study was performed, comprising 320 patients with eyelid SC. Cox analyses were employed to investigate predictors of metastasis-free survival (MFS), and a nomogram was established and validated by the bootstrap method. Results Forty patients (12.5%) developed nodal metastasis during a median follow-up of 48.0 months, and the median period between the initial treatment and first nodal metastasis was 18.5 months (range 6.0-80.0 months). The 1-year, 3-year and 5-year nodal metastasis rates were 5.5%, 12.5% and 15.4%, respectively. Diffuse pattern (HR: 4.34, 95% CI 1.75 to 10.76, p=0.002), orbital invasion at presentation (HR: 3.22, 95% CI 1.42 to 7.33, p=0.005), perineural invasion (HR: 3.24, 95% CI 1.11 to 9.49, p=0.032) and high Ki-67 percentage (HR: 1.03, 95% CI 1.01 to 1.05, p<0.001) were identified as independent risk factors for nodal metastasis. A nomogram that integrated these four factors had a C-index of 0.785, demonstrating a strong power in predicting nodal metastasis of eyelid SC. Conclusions We identified risk factors for nodal metastasis and developed a nomogram to provide individualised estimates of nodal metastasis for eyelid SC patients and guide postoperative management. This nomogram contained clinicopathological factors besides the T category of the TNM staging system and suggesting great clinical value. [ABSTRACT FROM AUTHOR]

Background The clinical and pathological risk factors for worse T stage and prognosis in eyelid and periocular squamous cell carcinomas (SCCs) remain unclear. P63 was reported to predict a worse prognosis in other SCCs; however, this correlation was not validated in eyelid and periocular SCCs. Methods We reported on a retrospective case series of 85 consecutive patients with eyelid and periocular SCCs from 1995 to 2019. Cox proportional hazards regression models and logistic regression models were applied for risk factor analysis. Results Thirty-nine (45.8%) patients were diagnosed with T4 SCCs. Four (5.1%) patients developed nodal metastasis, and five (6.4%) patients developed distant metastasis during the follow-up. 2-year and 5-year disease-specific survival rates were 95.3% and 86.4%, respectively. Poorly or moderately differentiated eyelid and periocular SCCs were associated with worse T stage (p=0.001; p=0.008). Poor differentiation was associated with a higher risk of recurrence (p=0.024). Disease-specific death was more common in patients with T4 stage SCCs (p=0.038, HR=9.05). P63 expression was more common in patients with T3c or worse stage (p=0.008, OR=3.77). P63 expression alone was associated with worse differentiation (p=0.029), higher risk of perineural invasion (p=0.042, OR=4.61) and metastasis (p=0.009, HR=3.99). P63 expression (p=0.012, HR=7.80), coexpression of P63 and Ki67 (p=0.007, HR=9.21) and distant metastasis (p=0.001, HR=11.23) were associated with disease-specific death. Conclusion Patients presented with more aggressive orbital invasion features and a higher rate of distant metastasis in this cohort. P63 and coexpression of Ki67 predicted a worse stage, differentiation and prognosis, including metastasis and death due to disease. [ABSTRACT FROM AUTHOR]