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Colorectal Neoplasia Rates in Li-Fraumeni Syndrome.

Sophia R Spiegel1, Caitlin Orr1, Nicolas U Edgar2

  • 1Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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|February 25, 2026
PubMed
Summary
This summary is machine-generated.

Li Fraumeni Syndrome (LFS) patients show similar adenoma detection rates but higher serrated lesion detection rates compared to average-risk individuals. These findings support earlier and more frequent colonoscopies for LFS patients.

Keywords:
Li-Fraumeni syndromeTP53colorectal cancer screeningcolorectal neoplasia screening colonoscopy

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Area of Science:

  • Gastroenterology
  • Oncology
  • Genetics

Background:

  • Li Fraumeni Syndrome (LFS) patients have a heightened risk of colorectal cancer (CRC) due to TP53 pathogenic germline variants (PGVs).
  • Limited data exists on colonoscopy surveillance metrics for LFS patients, particularly regarding neoplasia detection rates.

Purpose of the Study:

  • To evaluate colonoscopy metrics in individuals with Li Fraumeni Syndrome.
  • To assess neoplasia detection rates, including adenomas and serrated lesions, in LFS patients undergoing surveillance colonoscopies.

Main Methods:

  • A retrospective cohort study analyzed data from 663 individuals with LFS.
  • Colonoscopy metrics such as total neoplasia detection rate, adenoma detection rate (ADR), advanced ADR, serrated lesion detection rate (SDR), and CRC detection rate were determined.
  • Data was stratified by age, gender, and TP53 PGV subtype.

Main Results:

  • Colorectal cancer (CRC) was diagnosed in 4.5% of adult LFS patients and 0.8% of pediatric patients.
  • In adults undergoing colonoscopy, the total neoplasia detection rate was 37%, ADR was 27%, SDR was 9.3%, and advanced precancerous polyp detection rate was 4.5%.
  • Detection rates varied by age and sex, with males and older adults (45-75) showing higher detection rates.

Conclusions:

  • Li Fraumeni Syndrome patients exhibit comparable adenoma detection rates and higher serrated lesion detection rates than average-risk individuals.
  • Current recommendations for earlier and more frequent colonoscopy surveillance are supported for LFS patients, regardless of TP53 PGV subtype or phenotype.