Penelope V Edwards, Kussai Giuma Ali Eloussta, Andrew Latchford, Omar Faiz, Huw Thomas, Filomena Liccardo, Nikhil Pawa, Robert Hüneburg, Jacob Nattermann, Andrew George, Francesc Balaguer, Marc Martí, Antonino Spinelli, Caterina Foppa, Noel F F C de Miranda, Irene López, Elena Hurtado, Fernando Jiménez, Marta Jiménez-Toscano, Edurne Álvaro, Gonzalo Sanz, Araceli Ballestero, José A Rueda, Cristina Viyuela, Lorena Brandáriz, Rosario Vidal-Tocino, Damián García-Olmo, Carlos Pastor, Rogelio González-Sarmiento, Andreana N Holowatyj, Terri McVeigh, José Perea, Kevin J Monahan
{"title":"欧洲早发性结直肠癌的真实世界分子检测。","authors":"Penelope V Edwards, Kussai Giuma Ali Eloussta, Andrew Latchford, Omar Faiz, Huw Thomas, Filomena Liccardo, Nikhil Pawa, Robert Hüneburg, Jacob Nattermann, Andrew George, Francesc Balaguer, Marc Martí, Antonino Spinelli, Caterina Foppa, Noel F F C de Miranda, Irene López, Elena Hurtado, Fernando Jiménez, Marta Jiménez-Toscano, Edurne Álvaro, Gonzalo Sanz, Araceli Ballestero, José A Rueda, Cristina Viyuela, Lorena Brandáriz, Rosario Vidal-Tocino, Damián García-Olmo, Carlos Pastor, Rogelio González-Sarmiento, Andreana N Holowatyj, Terri McVeigh, José Perea, Kevin J Monahan","doi":"10.1002/ueg2.70112","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The global incidence and mortality of early-age onset colorectal cancer (EOCRC, or CRC diagnosed under 50 years) has increased in recent decades. High-risk surveillance and personalised oncological treatment may improve patients' outcomes. This study aims to characterise real-world somatic and germline molecular profiles in European EOCRC patients.</p><p><strong>Patients and methods: </strong>Consecutive patients across the UK, Spain, Germany and Italy from the GEOCODE and SECOC consortia were identified using electronic patient records. Clinicopathological, somatic and germline testing data were collected on EOCRC patients. Tests included mismatch repair (MMR), somatic next generation sequencing (NGS) and germline multi-gene panels.</p><p><strong>Results: </strong>Eight hundred ninety-three EOCRC patients were identified from 23 European centres (45.7% female, median age 42, range 14-49), predominantly in the distal colorectum: 205/893 (22.9%) patients with right-sided tumours, 302/893 (33.8%) left-sided tumours, 288/893 (32.2%) rectal tumours and 97/893 (10.8%) unknown. On somatic analysis, 735/893 (82.3%) of patients had pMMR tumours and 148/893 (16.5%) dMMR. Although 534/893 (59.7%) did not receive NGS somatic testing, somatic variants were detected in 233/359 (64.9%) of those tested. Germline variants were detected in 133/210 (63.3%) patients tested. Lynch syndrome was diagnosed in 93/210 (44.2%), of whom 17/93 (18.2%) presented with pMMR tumours. Systematic recording of family history in these real-world data was variable. In all patients with family history recorded, 153/484 (31.4%) patients reported a relative with CRC.</p><p><strong>Conclusions: </strong>Our results support universal and paired somatic and germline multi-gene panels for all EOCRC patients, regardless of MMR status or family history. Systematic molecular testing approaches are necessary to address disparities in people with EOCRC. Larger unselected cohort studies would support validation of testing prediction models and estimates of clinically relevant variant actionability.</p>","PeriodicalId":23444,"journal":{"name":"United European Gastroenterology Journal","volume":" ","pages":""},"PeriodicalIF":6.7000,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Real-World Molecular Testing in European Early-Onset Colorectal Cancer.\",\"authors\":\"Penelope V Edwards, Kussai Giuma Ali Eloussta, Andrew Latchford, Omar Faiz, Huw Thomas, Filomena Liccardo, Nikhil Pawa, Robert Hüneburg, Jacob Nattermann, Andrew George, Francesc Balaguer, Marc Martí, Antonino Spinelli, Caterina Foppa, Noel F F C de Miranda, Irene López, Elena Hurtado, Fernando Jiménez, Marta Jiménez-Toscano, Edurne Álvaro, Gonzalo Sanz, Araceli Ballestero, José A Rueda, Cristina Viyuela, Lorena Brandáriz, Rosario Vidal-Tocino, Damián García-Olmo, Carlos Pastor, Rogelio González-Sarmiento, Andreana N Holowatyj, Terri McVeigh, José Perea, Kevin J Monahan\",\"doi\":\"10.1002/ueg2.70112\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>The global incidence and mortality of early-age onset colorectal cancer (EOCRC, or CRC diagnosed under 50 years) has increased in recent decades. High-risk surveillance and personalised oncological treatment may improve patients' outcomes. This study aims to characterise real-world somatic and germline molecular profiles in European EOCRC patients.</p><p><strong>Patients and methods: </strong>Consecutive patients across the UK, Spain, Germany and Italy from the GEOCODE and SECOC consortia were identified using electronic patient records. Clinicopathological, somatic and germline testing data were collected on EOCRC patients. Tests included mismatch repair (MMR), somatic next generation sequencing (NGS) and germline multi-gene panels.</p><p><strong>Results: </strong>Eight hundred ninety-three EOCRC patients were identified from 23 European centres (45.7% female, median age 42, range 14-49), predominantly in the distal colorectum: 205/893 (22.9%) patients with right-sided tumours, 302/893 (33.8%) left-sided tumours, 288/893 (32.2%) rectal tumours and 97/893 (10.8%) unknown. On somatic analysis, 735/893 (82.3%) of patients had pMMR tumours and 148/893 (16.5%) dMMR. Although 534/893 (59.7%) did not receive NGS somatic testing, somatic variants were detected in 233/359 (64.9%) of those tested. Germline variants were detected in 133/210 (63.3%) patients tested. Lynch syndrome was diagnosed in 93/210 (44.2%), of whom 17/93 (18.2%) presented with pMMR tumours. Systematic recording of family history in these real-world data was variable. In all patients with family history recorded, 153/484 (31.4%) patients reported a relative with CRC.</p><p><strong>Conclusions: </strong>Our results support universal and paired somatic and germline multi-gene panels for all EOCRC patients, regardless of MMR status or family history. Systematic molecular testing approaches are necessary to address disparities in people with EOCRC. Larger unselected cohort studies would support validation of testing prediction models and estimates of clinically relevant variant actionability.</p>\",\"PeriodicalId\":23444,\"journal\":{\"name\":\"United European Gastroenterology Journal\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":6.7000,\"publicationDate\":\"2025-09-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"United European Gastroenterology Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/ueg2.70112\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"United European Gastroenterology Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ueg2.70112","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Real-World Molecular Testing in European Early-Onset Colorectal Cancer.
Purpose: The global incidence and mortality of early-age onset colorectal cancer (EOCRC, or CRC diagnosed under 50 years) has increased in recent decades. High-risk surveillance and personalised oncological treatment may improve patients' outcomes. This study aims to characterise real-world somatic and germline molecular profiles in European EOCRC patients.
Patients and methods: Consecutive patients across the UK, Spain, Germany and Italy from the GEOCODE and SECOC consortia were identified using electronic patient records. Clinicopathological, somatic and germline testing data were collected on EOCRC patients. Tests included mismatch repair (MMR), somatic next generation sequencing (NGS) and germline multi-gene panels.
Results: Eight hundred ninety-three EOCRC patients were identified from 23 European centres (45.7% female, median age 42, range 14-49), predominantly in the distal colorectum: 205/893 (22.9%) patients with right-sided tumours, 302/893 (33.8%) left-sided tumours, 288/893 (32.2%) rectal tumours and 97/893 (10.8%) unknown. On somatic analysis, 735/893 (82.3%) of patients had pMMR tumours and 148/893 (16.5%) dMMR. Although 534/893 (59.7%) did not receive NGS somatic testing, somatic variants were detected in 233/359 (64.9%) of those tested. Germline variants were detected in 133/210 (63.3%) patients tested. Lynch syndrome was diagnosed in 93/210 (44.2%), of whom 17/93 (18.2%) presented with pMMR tumours. Systematic recording of family history in these real-world data was variable. In all patients with family history recorded, 153/484 (31.4%) patients reported a relative with CRC.
Conclusions: Our results support universal and paired somatic and germline multi-gene panels for all EOCRC patients, regardless of MMR status or family history. Systematic molecular testing approaches are necessary to address disparities in people with EOCRC. Larger unselected cohort studies would support validation of testing prediction models and estimates of clinically relevant variant actionability.
期刊介绍：
United European Gastroenterology Journal (UEG Journal) is the official Journal of the United European Gastroenterology (UEG), a professional non-profit organisation combining all the leading European societies concerned with digestive disease. UEG’s member societies represent over 22,000 specialists working across medicine, surgery, paediatrics, GI oncology and endoscopy, which makes UEG a unique platform for collaboration and the exchange of knowledge.
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