High adherence despite frequent surveillance of children with inherited cancer risk
Children with an inherited variant in the TP53 gene show a high level of adherence to recommended medical surveillance for early cancer detection. At the same time, surveillance often leads to the investigation of suspected findings that ultimately prove to be harmless. This is shown by a new Swedish study from Karolinska Institutet, recently published in the journal Genetics in Medicine.
Children born with a pathogenic variant in the TP53 gene, known as Li‑Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance from early childhood, typically every three months. In the new study, researchers examined how well such surveillance programs function in practice and what consequences they have for children and their families.
The study is based on the national, prospective SWEP53 study and includes 37 children in Sweden who either had a confirmed inherited TP53 variant or a 50 percent risk of carrying it. The children were followed with clinical examinations, abdominal ultrasound, and urine testing every three months.
The results show that adherence to surveillance was high: between 77 and 97 percent after three years, depending on how it was measured. Nearly all children continued with clinical examinations and ultrasound for several years. In contrast, repeated urine sampling was more difficult to carry out, partly due to the time‑consuming collection of 24‑hour urine samples.
“It is encouraging that adherence to the surveillance program is so high despite its intensity and the fact that it begins at a very young age,” says Alexander Sun Zhang, physician and researcher at the Department of Oncology‑Pathology and first author of the study.
Most findings are not cancer
During the course of the study, two new cancer cases were diagnosed. One of them was detected within the surveillance protocol. At the same time, 35 percent of the children had at least one finding that required further investigation, but where follow‑up assessments showed the findings to be benign.
“It is important to be aware that findings requiring further investigation are relatively common during intensive surveillance, but that the vast majority are completely harmless and not cancerous changes,” says last author Svetlana Bajalica Lagercrantz, who leads the SWEP53 study and is a senior consultant at Karolinska University Hospital as well as an adjunct professor at the Department of Oncology‑Pathology.
The researchers emphasize that longer follow‑up is needed to fully assess the effects of different surveillance programs and that the results may contribute to the development of future national and international guidelines.
The study was conducted in collaboration between several university hospitals in Sweden. The research was funded, among others, by the Swedish Childhood Cancer Fund, the Swedish Cancer Society, Region Stockholm, and the Radiumhemmet Research Funds. The researchers report no conflicts of interest.
Publication
"Surveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53)”, Sun Zhang A, Omran M, Wille J, Ek T, Sabel M, Pal N, Óskarsson T, Kogner P, Ljungman G, Tham E, Bajalica-Lagercrantz S, Genetics in Medicine, 2026