Cancer Research and Treatment

Original Articles

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

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

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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

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Hereditary Nonpolyposis Colorectal Cancer in Korean: Jae Hwan Oh, Hye Jung Han, Ja Lok Ku, Yuan Ying, Kwang Yun Kim, Kwang Yun Kim, Sung Kim, Young Jin Kim, Chung Yong Kim, Jin Cheon Kim, Jin Cheon Kim, Nam Geun Oh, Choong Yoon, Kee Hyung Lee, Kuk Jin Cho; J Korean Cancer Assoc. 1996;28(2):207-215.

Abstract PDF: Hereditaty nonpolyposis colon cancer (HNPCC) accounts for about 5% of all colorectal cancer. Mutations in the DNA mismatch repair genes (hMLH1, hMSH2 and PMS families) are responsible to HNPCC. To study the characteristics and optimal treatment modality of Korean HNPCC patients, we analysed the 29 HNPCC families registered in the Korean Hereditary Colorectal Cancer Registry. The control group consisted of 791 colorectal cancer patients treated in Seoul National University Hospital between 199I and 1994. Twenty-nine HNPCC families included 116 (79 males and 37 females) colorectal cancer patients. Following findings were significantly different from those of control group. ¨c Their average age at diagnosis was younger (44 years) than that of control group (56 years). ¨e Thirty-nine percent of colorectal cancer were located proximal to splenic flexure compared to 24% of cantrol group. ¨e Fifty percent of cancers located in sigmoid colon or rectum, but in control group 73% of cancers located in those area. In Western series, however, only 23.3% of cancers located in the sigmoid colon or rectum. Operative and pathologic records were available from 45 HNPCC patients. Forty-four percent of those 45 HNPCC patients had multiple colorectal cancers including polyps. Thirty-eight percent of HNPCC Patients had the tumors in both sides of the large bowel. Forty-five patients received 52 operations, but only 13 cases (25% ) were total or subtotal colectomy. Endometrial cancer and stomach cancer were the most frequent extracolonic cancers in HNPCC. HNPCC should be suspected in colorectal cancer patients with early age of onset and proximal colon involvement, or multiple colorectal cancers. We confirmed that the extent of the resection for HNPCC patients should be more than subtotal colectomy. Screening for endometrial and stomach cancer was necessary in families with those cancers. Especially woman with HNPCC should be considered hysterectomy and bilateral salpingo-oophorectomy at the time of colectomy.

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