Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma
In this study, 28% of patients with unilateral Rb had germline <i>RB1</i> mutations, of which 43% were inherited, and one-third presented beyond their first year of life. Therefore, molecular screening is critical for genetic counseling regarding the risk for inherited Rb in unilateral cases, including those with no family history, regardless of the age at diagnosis. However, germline mutations did not appear to significantly predict patient outcomes regarding eye salvage, metastasis, and survival.
Authors
- Maysa A. Al-Hussaini (ORCID: https://orcid.org/0000-0001-6392-150X)
- Yacoub A. Yousef (ORCID: https://orcid.org/0000-0001-7750-6454)
- Jakub Khzouz (ORCID: https://orcid.org/0000-0002-1568-149X)
- Iyad Sultan (ORCID: https://orcid.org/0000-0002-2664-1565)
- Mayada Abu Shanap (ORCID: https://orcid.org/0000-0002-3246-0760)
- Hadeel Halalsheh (ORCID: https://orcid.org/0000-0003-4803-1976)
- Munir Shawagfeh
- Mona Mohammad (ORCID: https://orcid.org/0000-0002-8318-1171)
- Ibrahim AlNawaiseh (ORCID: https://orcid.org/0000-0002-4592-7278)
- Mustafa Mehyar
- Laith Baqain
- Imad Jaradat
Institutions
- King Hussein Cancer Center (JO)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2024-08-21
- DOI
- https://doi.org/10.3389/fmed.2024.1406215
- Citations
- 2
- Primary Topic
- Ocular Oncology and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.08
Funders
- King Hussein Cancer Center