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Original Article
- Gastrointestinal cancer
- Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital
- Min Hyun Kim, Duck-Woo Kim, Hye Seung Lee, Su Kyung Bang, Soo Hyun Seo, Kyung Un Park, Heung-Kwon Oh, Sung-Bum Kang
- Cancer Res Treat. 2023;55(1):179-188. Published online March 21, 2022
- DOI: https://doi.org/10.4143/crt.2021.1512
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Abstract
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ePub - Purpose
Universal screening for Lynch syndrome (LS) refers to routine tumor testing for microsatellite instability (MSI) among all patients with colorectal cancer (CRC). Despite its widespread adoption, real-world data on the yield is lacking in Korean population. We studied the yield of adopting universal screening for LS in comparison with pedigree-based screening in a tertiary center.
Materials and Methods
CRC patients from 2007-2018 were reviewed. Family histories were obtained and were evaluated for hereditary nonpolyposis colorectal cancer (HNPCC) using Amsterdam II criteria. Tumor testing for MSI began in 2007 and genetic testing was offered using all available clinicopathologic data. Yield of genetic testing for LS was compared for each approach and step.
Results
Of the 5,520 patients, tumor testing was performed in 4,701 patients (85.2%) and family histories were obtained from 4,241 patients (76.8%). Hereditary CRC (LS or HNPCC) was present in 69 patients (1.3%). MSI-high was present in 6.9%, and 25 patients had confirmed LS. Genetic testing was performed in 41.2% (47/114) of MSI-high patients, out of which 40.4% (19/47) were diagnosed with LS. There were six additional LS patients found outside of tumor testing. For pedigree-based screening, Amsterdam II criteria diagnosed 55 patients with HNPCC. Fifteen of these patients underwent genetic testing, and 11 (73.3%) were diagnosed with LS. Two patients without prior family history were diagnosed with LS and relied solely on tumor testing results.
Conclusion
Despite widespread adoption of routine tumor testing for MSI, this is not a fail-safe approach to screen all LS patients. Obtaining a thorough family history in combination with universal screening provides a more comprehensive ‘universal’ screening method for LS. -
Citations
Citations to this article as recorded by
- Hereditary Colorectal Cancer: From Diagnosis to Surgical Options
Rami James N. Aoun, Matthew F. Kalady
Clinics in Colon and Rectal Surgery.2025; 38(03): 179. CrossRef - Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment
Hyo Seon Ryu, Hyun Jung Kim, Woong Bae Ji, Byung Chang Kim, Ji Hun Kim, Sung Kyung Moon, Sung Il Kang, Han Deok Kwak, Eun Sun Kim, Chang Hyun Kim, Tae Hyung Kim, Gyoung Tae Noh, Byung-Soo Park, Hyeung-Min Park, Jeong Mo Bae, Jung Hoon Bae, Ni Eun Seo, Cha
Annals of Coloproctology.2024; 40(2): 89. CrossRef - Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker
Hereditary Cancer in Clinical Practice.2024;[Epub] CrossRef - Genetic Testing for Prostate Cancer, Urothelial Cancer, and Kidney Cancer
Hyunho Han, Minyong Kang, Seok-Soo Byun, Seok Joong Yun
Journal of Urologic Oncology.2023; 21(2): 128. CrossRef - Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
Hereditary Cancer in Clinical Practice.2023;[Epub] CrossRef - Hereditary Colorectal Cancer: State of the Art in Lynch Syndrome
Antonio Nolano, Alessia Medugno, Silvia Trombetti, Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
Cancers.2022; 15(1): 75. CrossRef
- Hereditary Colorectal Cancer: From Diagnosis to Surgical Options
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