Surveillance Enables Early Tumour Detection For Cancer Predisposition Syndrome - EMJ

Surveillance Enables Early Tumour Detection For Cancer Predisposition Syndrome

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A RECENT cohort study has underscored the importance of surveillance in detecting tumours early in paediatric patients with cancer predisposition syndromes (CPS).

Conducted at a specialised paediatric oncology centre, the study monitored 274 children and young adults, from birth to 23 years old, diagnosed with CPS between January 2009–September 2021 (mean age: 8 years; 52.6% female). Excluding cases with hereditary retinoblastoma and bone marrow failure syndromes, the researchers aimed to evaluate the effectiveness of surveillance regimens tailored to various CPSs.

Study findings were analysed from August 2021–December 2023. Over a median follow-up period of 3 years, 35 asymptomatic tumours were detected in 27 patients through surveillance, representing 9.9% of the cohort. In contrast, five symptomatic tumours were identified outside of surveillance in five patients (1.8%), two of whom also had tumours detected through surveillance.

Importantly, tumours identified through surveillance were more likely to be localised compared to those detected before the CPS diagnosis. Specifically, 83.3% of malignant solid and brain tumours found via surveillance were localised, compared to 56.8% of similar tumours detected prior to the CPS diagnosis (P<0.001). Furthermore, 70.8% of surgically resected tumours found through surveillance had completely negative margins, indicating a higher likelihood of complete removal.

The study also highlighted the accuracy of the surveillance methods used. Across all imaging modalities, surveillance demonstrated high sensitivity (96.4%), specificity (99.6%), positive predictive value (94.3%), and negative predictive value (99.6%), with minimal false-positive (0.4%) and false-negative (0.3%) findings.

Early detection through surveillance not only enhances the likelihood of successful treatment, but also allows for less invasive interventions, significantly improving patient outcomes. The study advocates for the implementation of standardised surveillance protocols to ensure early and accurate detection of new tumours in children with CPS.

Ada Enesco, EMJ, London, UK


Blake A et al. Performance of tumor surveillance for children with cancer predisposition. JAMA Oncol. 2024; DOI:10.1001/jamaoncol.2024.1878.

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