What does this research mean for the field?

Individuals with Li Fraumeni Syndrome have a total neoplasia detection rate of 37% during surveillance colonoscopies, which is comparable to average-risk adults. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

What question did this study set out to answer?

The aim is to assess colorectal neoplasia rates and characteristics in individuals with Li Fraumeni Syndrome (LFS).

February 26, 2026

Colorectal neoplasia rates in Li Fraumeni Syndrome

Key Points

The aim is to assess colorectal neoplasia rates and characteristics in individuals with Li Fraumeni Syndrome (LFS).
Conducted a retrospective cohort study of 663 individuals with LFS.
Analyzed data from 311 surveillance colonoscopies performed from January 2019 to August 2024.
Calculated total neoplasia detection rates and other metrics, stratified by age, gender, and TP53 PGV subtype.
4.5% of adults and 0.8% of pediatric patients with LFS were diagnosed with CRC.
Total neoplasia detection rate was 37%, with an ADR of 27% and an SDR of 9.3%.
Older adults (45-75 years) showed higher detection rates than younger adults (25-45).
Male patients had higher total neoplasia rates, ADR, and advanced ADR compared to females.

Abstract

Background and Aims: Individuals with Li Fraumeni Syndrome (LFS), a cancer predisposition syndrome caused by TP53 pathogenic germline variants (PGV), have an increased risk of colorectal cancer (CRC). However, limited data exists on colonoscopy metrics, including total neoplasia detection rates, in LFS patients. Methods: We conducted a retrospective cohort study of colorectal neoplasia incidence and characteristics in 663 individuals with LFS. We determined total neoplasia detection rate, adenoma detection rate (ADR), advanced ADR, serrated lesion detection rate (SDR) and CRC detection rate, stratified by age, gender, and PGV subtype, in 311 surveillance colonoscopies from 206 adults performed January 2019 - August 2024. Results: CRC was reported in 4.5% of 663 adults and 0.8% of 124 pediatric patients with LFS. Among 206 adults undergoing colonoscopy, total neoplasia detection rate, ADR, SDR, advanced precancerous polyp detection rate, and CRC detection rate were 37%, 27%, 9.3%, 4.5%, and 0.64% respectively. Detection rates were similar between loss of function and hypomorphic PGVs. Adults aged 45-75 had higher total neoplasia detection rate, ADR, advanced ADR, SDR, and CRC detection rate than those aged 25-45. Male sex was associated with increased total neoplasia detection rate (53.7% vs. 30.7%, p = 0.0004), ADR (41.2% vs. 22.1%, p = 0.0013), and advanced ADR (7.5% vs. 1.3%, p=0.0105). Conclusion: LFS patients have comparable ADR and higher SDR to average risk adults despite earlier, more frequent surveillance, irrespective of TP53 PGV subtype. Our data support current recommendations for earlier and more frequent colonoscopy surveillance than average-risk guidelines, across LFS phenotypes.

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