Surveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53).

Germline TP53 variants

Li-Fraumeni syndrome, caused by germline TP53 variants, warrants intensive surveillance from birth, though paediatric adherence and adverse effects had not been studied. The prospective Swedish nationwide SWEP53 study (2016-2024) followed 37 individuals under 18 with a confirmed or 50% risk variant, with quarterly clinical examination, abdominal ultrasound and urine steroid profiling. Adherence ranged from 77% to 97%, lowest for urine sampling. One of two cancers diagnosed was detected through surveillance. The false-positive rate was 12% per person-year, with 35% of individuals experiencing at least one false positive prompting imaging or specialist referral, including one requiring invasive diagnostics.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

These real-world data are valuable for calibrating paediatric Li-Fraumeni surveillance, weighing the benefit of early detection against the morbidity of false positives. A 12% false-positive rate per person-year is a reminder that intensive surveillance carries a non-negligible psychological and medical cost. These results should inform recommendations on surveillance modalities and intervals.

Analysis by Dr Thibaut Benquey