By Lynda Williams, medwireNews Reporter
medwireNews: Early detection of tumours in children with a cancer predisposition syndrome (CPS) can be achieved with standardised surveillance protocols, US cohort study findings demonstrate.
Kim Nichols (St Jude Children’s Research Hospital [SJCRH], Memphis, Tennessee, USA) and co-workers say their research is applicable “across a wide spectrum of CPSs, allowing for complete surgical resection and successful treatment in the majority of patients.”
The team collated information for 274 children and young adults with a CPS who underwent surveillance at the SJCRH for a median of 3 years between birth and age 23 years. The children (52.6% girls) were aged a median of 8 years at time of CPS diagnosis, 50.7% of whom had a history of tumours. The most common CPS diagnosis was Li Fraumeni syndrome (17.9%), followed by familial adenomatous polyposis (13.9%), neurofibromatosis type 1 (10.2%) and DICER1 syndrome (9.1%).
The children were monitored for new tumours using a “diverse range of surveillance tests administered at specific intervals and ages” that were tailored for their specific CPS and family history, explain Nichols and co-authors in JAMA Oncology.
For patients with Li Fraumeni syndrome, for example, surveillance from time of diagnosis included abdominal ultrasound every 3 months to age 18 years and at 6-monthly intervals thereafter; annual brain and whole-body magnetic resonance imaging (MRI); comprehensive physical examinations every 6 months; and full blood count and hormone assessments at 3-monthly intervals. And from adulthood, breast, gynaecological, esophagogastroduodenoscopy (EGD) and colonoscopy, and skin examinations were scheduled regularly.
Overall, 87.5% of the 24 solid, 13 central nervous system and three haematopoietic malignancies that were diagnosed in 30 children during the study were identified via surveillance, the team reports.
Surveillance detection of tumours was via imaging in 71.4% of cases, 17.1% by clinical examination, 5.7% by EGD/colonoscopy, and 5.7% by laboratory assessment. First surveillance assessment detected 28.6% of the tumours and 65.7% were detected within 2 years of surveillance.
A further five (1.8%) children had symptomatic tumours detected outside of surveillance, namely two cases of treatment-associated acute myeloid leukaemia, and single cases of basal cell carcinoma, desmoid tumour and Sertoli cell tumour. Two of these children also had a second primary tumour detected by surveillance.
Analysis indicated that malignant tumours detected via surveillance were significantly more likely to be localised than the tumours detected before surveillance (83.3% of 24 versus 56.8% of 71). Of the 24 surveillance-identified tumours that were treated with surgery, 70.8% were resected with negative margins, 25.0% had residual microscopic disease and 4.2% distant metastases. And almost half (48.6%) of tumours detected by surveillance required only surgery.
When considering the accuracy of imaging and diagnostic surveillance at a patient level, surveillance was 96.4% sensitive and 99.6% specific for detection of tumours with positive and negative predictive values of 94.3% and 99.6%, respectively.
Using a report-based approach for imaging techniques, spinal MRI and EGD/colonoscopy each was found to be 100% sensitive and specific for detection of tumours, whereas whole-body MRI had 100% sensitivity but 98% specificity following three false–positive findings, and abdominal ultrasound was 100% specific but 20% sensitive on the basis of four false–negative findings.
Just 0.4% of surveillance tests in 2.2% of patients had false–positive lesions but these did not result in surgery or a change in treatment. A further 3.6% of patients had indeterminant lesions that are being closely monitored, the researchers add.
“These data indicate the utility of surveillance; the importance of initiating monitoring as soon as a CPS diagnosis is established, even if it is during treatment for an existing tumor; and the need to coordinate imaging with primary oncologists to reduce exposure to anesthesia and minimize costs from duplicate scans”, Nichols et al conclude.
However, the researchers acknowledge that the study “did not examine the psychological, emotional, or economic outcomes of surveillance” and that further study is required to determine whether the previously reported economic benefits associated with surveillance in Li Fraumeni syndrome will translate to other types of CPS.
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JAMA Oncol 2024; doi:10.1001/jamaoncol.2024.1878