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Risk of secondary tumours in patients with non-metastatic and metastatic human retinoblastoma



Retinoblastoma is an intraocular cancer in children and infants. Despite all the available treatment options and high survival rates in children with retinoblastoma, exposure to secondary tumours in adulthood is one of the concerns that physicians face. In many cases, dysfunction of the RB1 gene is the main cause of secondary tumours due to retinoblastoma. Therefore, the aim of this study was to evaluate the incidence of other secondary tumours in children with retinoblastoma.


In this regard, we performed continuous and integrated bioinformatics analyses to find genes, protein products, and signal pathways involved in other cancers.


1170 high-expression genes and 960 low-expression genes between non-invasive and invasive retinoblastoma were isolated. After examining the signal pathways, we observed bladder cancer and small cell lung cancer in the overexpressed genes. We also observed 5 cancers of endometriosis, prostate, non-small cell lung cancer, glioblastoma and renal cell carcinoma in low-expression genes. Based on the P-value index, non-small cell lung cancer, prostate and bladder cancers had the highest risk, and endometriosis cancer showed a lower probability of developing a secondary tumour in patients with retinoblastoma. In addition, the network between proteins also showed us that TP53, CDK2, SRC, MAPK1 proteins with high expression and JUN, HSP90AA1, and UBC proteins with low-expression play a significant role in candidate cancers.


Lastly, we used continuous bioinformatics analysis to show that seven cancers are strongly linked to retinoblastoma cancer. Of course, more research is needed to find the best way to care for children who have been treated for retinoblastoma.

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Fig. 1: Molecular function analysis in retinoblastoma.
Fig. 2: Proteins interaction in retinoblastoma hub genes.
Fig. 3: Retinoblastoma secondary tumors gene expression.
Fig. 4: Retinoblastoma secondary tumors candidates in overall view.

Data availability

All data generated or analysed during this study are included in this published article.


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We thank all colleagues in the core facilities for their support.

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Authors and Affiliations



All authors Participated in study design, data collection and evaluation, drafting and statistical analysis; Contributed extensively in interpretation of the data and the conclusion and figure design. All authors performed editing and approving the final version of this paper for submission, also participated in the finalisation of the manuscript and approved the final draft.

Corresponding author

Correspondence to Habibollah Mahmoodzadeh.

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Competing interests

This study was supported by a part of grant of Tehran University of medical science [Projects Code: 99-1-115-47842; 1400-2-259-54530].

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Sadeghi, R., Pirankuraim, H., Javanshir, S.T. et al. Risk of secondary tumours in patients with non-metastatic and metastatic human retinoblastoma. Eye (2022).

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