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• W2890331799 abstract "Li-Fraumeni syndrome (LFS) is an autosomal dominant inherited cancer predisposition syndrome caused by germline mutations in TP53. LFS is characterized by an 80% to 90% lifetime risk of a broad spectrum of cancers, of which 21% of cancers occur by age 15.1Mai P.L. et al.Cancer. 2016; 122: 3673-3681Crossref PubMed Scopus (265) Google Scholar, 2Malkin D. et al.Science. 1990; 250: 1233-1238Crossref PubMed Scopus (3064) Google Scholar, 3Villani A. et al.Lancet Oncol. 2016; 17: 1295-1305Abstract Full Text Full Text PDF PubMed Scopus (281) Google Scholar Established cancer screening guidelines for patients with LFS lead to earlier cancer detection and treatment.3Villani A. et al.Lancet Oncol. 2016; 17: 1295-1305Abstract Full Text Full Text PDF PubMed Scopus (281) Google Scholar Colorectal cancer (CRC) screening recommendations in LFS advise initiating screening at age 25, or 10 years before the first familial case of CRC.4Kratz C.P. et al.Clin Cancer Res. 2017; 23: e38-e45Crossref PubMed Scopus (259) Google Scholar Incidence of early-onset CRC in previously published reports suggest that the frequency of CRC was at least 0.7% in those younger than 25, and at least 2.8% in those younger than 50, with a median age of onset of 33 to 38 years.1Mai P.L. et al.Cancer. 2016; 122: 3673-3681Crossref PubMed Scopus (265) Google Scholar, 5Wong P. et al.Gastroenterology. 2006; 130: 73-79Abstract Full Text Full Text PDF PubMed Scopus (88) Google Scholar In one study including polyps with high-grade dysplasia (HGD), this frequency increased to 6.1% in those younger than 25 and 7.6% in those younger than 50 years.6Rengifo-Cam W. et al.Clin Gastroenterol Hepatol. 2018; 16: 140-141Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar We performed a retrospective review to determine CRC incidence in a clinically well-annotated cohort of patients with LFS at a pediatric/adult medical center. We also conducted a focused review of CRC in individuals with pathogenic TP53 mutations included in the International Agency for Research on Cancer (IARC). In light of available literature and collected data, further studies are needed to determine if colonoscopy or alternative noninvasive colon cancer screening modalities are beneficial at a younger age, especially in patients who received abdominal radiation. Under Children’s Hospital of Philadelphia and University of Pennsylvania Institutional Review Board approved protocols, medical records were queried over a 10-year period (2007–2017) to identify individuals with a confirmed pathogenic germline mutation in TP53; cases were cross-referenced with cancer predisposition records. Medical records and pathology were then reviewed for a diagnosis of colon adenocarcinoma, colorectal adenocarcinoma, rectal adenocarcinoma, or HGD in a colonic adenoma. Data were downloaded from the IARC database7Bouaoun L. et al.Hum Mutat. 2016; 37: 865-868Crossref PubMed Scopus (471) Google Scholar for individuals with known germline TP53 mutations. TP53 mutations were classified as pathogenic/likely pathogenic in 1990 individuals in 727 families, and all other genetic alterations were excluded. The incidence of colon cancer, CRC, or rectal cancer was determined for all individuals. Review of records at Children’s Hospital of Philadelphia and University of Pennsylvania are detailed in Table 1. In the combined cohort of 93 TP53+ patients with LFS, 67.7% had a diagnosis of at least 1 malignancy. Of 93 patients, 8.6% had a diagnosis of either CRC or adenomatous polyp with HGD (Table 1); 3.2% had a CRC diagnosis before age 25 (age range 15–20 years) and 4.3% before age 35. Of those diagnosed with CRC, 3 had a history of a prior malignancy, and 1 pediatric patient had a history of abdominal radiation. None of patients had family history of CRC under the age of 35 years.Table 1CRC Diagnosis by Age in Patients With LFSnaTotal number of individuals with a likely pathogenic/pathogenic mutation in TP53.IARCCHOP/PENN199093CRCCRCCRC or HGDn%n%n%Total703.555.488.6≤25 y110.633.233.2≤35 y281.444.344.3≤50 y492.555.488.6CHOP, Children’s Hospital of Philadelphia; PENN, University of Pennsylvania.a Total number of individuals with a likely pathogenic/pathogenic mutation in TP53. Open table in a new tab CHOP, Children’s Hospital of Philadelphia; PENN, University of Pennsylvania. Of 1990 individuals with clinically pathogenic mutations in TP53 in the IARC dataset, 70 (3.5%) had a diagnosis of CRC, with age stratification detailed in Table 1. Fifty-six of 727 families (7.7%) had at least 1 family member diagnosed with CRC. Overall in IARC, 16% of the 70 CRC diagnoses occurred in individuals younger than 25, and 17% between ages 25 and 34. Leveraging the in-depth medical records of a large pediatric/adult tertiary care referral center, we found the incidence of early-onset CRC/HGD in patients with LFS to be 8.6%, with 3 patients (3.2%) diagnosed before age 25. Our review of the IARC database demonstrated a 3.5% incidence of CRC in individuals with clinically pathogenic TP53 mutations, with 1% diagnosed with CRC when younger than 25. Although these data are supported by previous reports of CRC incidence in LFS, this is the largest single-institution combined pediatric/adult cohort of CRC/HGD incidence in LFS to date.1Mai P.L. et al.Cancer. 2016; 122: 3673-3681Crossref PubMed Scopus (265) Google Scholar In addition, although patients were not selected other than by period of study, this study may be subject to ascertainment bias, given variable penetrance in LFS. Adult screening protocols recommend colonoscopy at the age when CRC risk is 0.6% or greater,8Regula J. et al.N Engl J Med. 2006; 355: 1863-1872Crossref PubMed Scopus (704) Google Scholar given the improved outcomes with early detection. When data from this cohort, the IARC database, and previous studies are viewed together, the incidence of CRC in LFS is at least 0.6% under age 25. We suggest that initiation of screening colonoscopy or other noninvasive colon cancer screening modalities should be considered earlier in the LFS population, especially in pediatric patients who received abdominal radiation. In conclusion, a subset of patients with LFS are at increased risk to develop CRC at a young age, and thus earlier CRC screening should be considered in this population to help mitigate the increased CRC risk. Author contributions: Study concept and design were performed by Suzanne P. MacFarland, Kristin Zelley, Bryson W. Katona, and Kara N. Maxwell. Data acquisition was performed by Suzanne P. MacFarland, Kristin Zelley, Jessica M. Long, Danielle McKenna, and Kara N. Maxwell. Data analysis and interpretation was performed by Suzanne P. MacFarland, Bryson W. Katona, and Kara N. Maxwell. Manuscript writing and revision of manuscript for important intellectual content was performed by all authors. Early-Onset Colorectal Cancer in Patients with Li Fraumeni Syndrome: Is It Really Enough to Justify Early Colon Cancer Screening?GastroenterologyVol. 157Issue 1PreviewWe would like to emphasize the importance of the article by MacFarland et al1 in a recent issue of Gastroenterology. The study identified early onset colorectal cancer (CRC) incidence of 5.4% in a large cohort of pediatric/adult patients with Li Fraumeni syndrome (LFS), with a 3.2% of CRC incidence at the age of ≤25 years, leading to a discussion of whether CRC screening should be initiated at <25 years of age in patients with LFS. Full-Text PDF" @default.
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• W2890331799 title "Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome" @default.
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