Tumor Surveillance in Pediatric Patients With Cancer Predisposition Syndromes

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In a single-center study reported in JAMA Oncology, Blake et al found that surveillance among pediatric patients with cancer predisposition syndromes can result in the early detection of new tumors. 

As stated by the investigators, “Pediatric oncology patients are increasingly recognized as having an underlying cancer predisposition syndrome. Surveillance is often recommended to detect new tumors at their earliest and most curable stages. Data on the effectiveness and outcomes of surveillance for children with cancer predisposition syndromes are limited.”

Study Details

The study involved data on children and young adults (age = infants [from birth] to 23 years) with clinical or molecular cancer predisposition syndromes undergoing surveillance at St. Jude Children’s Research Hospital between January 2009 and September 2021. Patients were monitored with standard surveillance regimens for corresponding cancer predisposition syndromes at a specialty pediatric oncology center. Patients with hereditary retinoblastoma and bone marrow failure syndromes were excluded from the analysis.

Key Findings

A total of 274 children and young adults (mean age = 8 years) with 35 different cancer predisposition syndromes were included in the analysis, with a median follow-up of 3 years (range = 1 month to 12 years).

During the study period, 35 asymptomatic tumors were detected in 27 patients through surveillance (9.9% of cohort). A total of five symptomatic tumors were detected in five patients (1.8% of cohort) outside of surveillance, of whom two also had tumors detected through surveillance. Of the 35 asymptomatic tumors detected, 19 (54.3%) were diagnosed in patients with a previously treated cancer, 6 (17.1%) in patients receiving cancer therapy, and 10 (28.6%) in patients with no cancer history.

Of the 35 asymptomatic tumors, 10 (28.6%) were identified on first surveillance imaging. Malignant solid and brain tumors detected through surveillance were more frequently localized tumors (stage I; 20 of 24 = 83.3%) vs those detected prior to cancer predisposition syndrome diagnosis (71 of 125 = 56.8%; P < .001).

Completely negative margins were achieved in 17 (70.8%) of the 24 tumors identified through surveillance that were surgically resected.

Across all imaging modalities used in surveillance, surveillance had a sensitivity of 96.4%, a specificity of 99.6%, a positive predictive value of 94.3%, and a negative predictive value of 99.6%.

The investigators concluded, “These findings suggest that standardized surveillance enables early detection of new tumors across a wide spectrum of cancer predisposition syndromes, allowing for complete surgical resection and successful treatment in the majority of patients.”

Kim E. Nichols, MD, of the Department of Oncology, St. Jude Children’s Research Hospital, Memphis, is the corresponding author for the JAMA Oncology article.

Disclosure: The study was funded by the American Lebanese Syrian Associated Charities. For full disclosures of the study authors, visit

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