Publications by authors named "H Jenkinson"
Background: Retinoblastoma (Rb) is the most common intraocular malignancy of childhood. The prognosis in Rb directly relates to the spread of disease beyond the eye, particularly to the central nervous system. Therefore, until the recent past, surgically entering an eye with active or recently active Rb was absolutely contraindicated in most centres around the world due to the risk of iatrogenic extraocular spread.
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- * A study reviewed 29 infants treated with carboplatin in the UK, showing that therapeutic drug monitoring (TDM) enabled real-time dosing adjustments, improving treatment outcomes.
- * The results indicated that TDM significantly reduced the risk of under or over-dosing and led to effective treatment responses with minimal side effects, suggesting it should be standard care for infants under 6 months with retinoblastoma.
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- Identifying somatic variations is essential for proving the heritability of retinoblastoma, and cell-free DNA (cfDNA) from aqueous humour (AH) can help when tumor DNA isn't available.
- In a study of 75 AH samples from 68 patients, researchers found that cfDNA concentration varies greatly and correlates with when the AH is collected.
- Early sampling after a few cycles of chemotherapy significantly improves cfDNA concentration and enables the detection of a high percentage of expected pathogenic variants, highlighting its importance in patient treatment.
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- Radiation exposure to bone tissue in childhood cancer survivors is linked to an increased risk of bone cancer, with a stronger correlation observed for doses above 1 Gy.
- A study of 228 cases and controls from 12 European countries found significant odds ratios for bone cancer related to radiation doses of 1-9 Gy and high cumulative doses of alkylating agents.
- The findings highlight the need to revise clinical follow-up guidelines for childhood cancer survivors due to the increased risks, especially for specific chemotherapy drugs like procarbazine, ifosfamide, and cyclophosphamide.
Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of the RB1 locus, but also genomic and epigenomic alterations outside the locus. The increasing knowledge on this "mutational landscape" is used in current practice for precise genetic testing and counselling.
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