{"title":"[结直肠癌的分子检测和液体活检]。","authors":"Arndt Stahler, Sebastian Stintzing","doi":"10.1007/s00117-025-01454-w","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The introduction of new DNA sequencing technologies has led to the discovery of many prognostically and predictively relevant biomarkers in tumor tissue and blood from patients with colorectal cancer.</p><p><strong>Objectives: </strong>Presentation of meaningful tissue-based molecular pathological diagnostics and discussion of the clinical application of circulating tumor DNA (ctDNA) from liquid biopsies in colorectal cancer.</p><p><strong>Materials and methods: </strong>Evaluation of existing literature and congress publications, discussion of post hoc analyses of clinical studies and expert recommendations.</p><p><strong>Results: </strong>In Union for International Cancer Control (UICC) stages II/III, the tissue-based evaluation of microsatellite instability (MSI-H) contributes to individual therapy optimization through advice on adjuvant chemotherapy (colon cancer, UICC II) or, if necessary, individual neo-adjuvant therapy concepts via the use of immunotherapy (colon, rectal cancer, UICC II/III). From liquid biopsies, ctDNA was associated with minimal residual disease, which influences disease-free survival. In the metastatic stage (UICC IV), tissue-based determination of RAS and BRAF V600E mutations, MSI‑H and in the near future also HER2/neu overexpression should be performed. Broader molecular diagnostics to optimize first-line therapy (molecular hyperselection) shows little additional benefit. ctDNA can be used for longitudinal monitoring of clonal tumor evolution or as an alternative to invasive diagnostics in patients.</p><p><strong>Conclusions: </strong>Molecular pathological diagnostics from tissue and blood complement each other and should be used in a targeted and meaningful way according to the underlying question.</p>","PeriodicalId":74635,"journal":{"name":"Radiologie (Heidelberg, Germany)","volume":" ","pages":"410-415"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Molecular testing and liquid biopsies in colorectal cancer].\",\"authors\":\"Arndt Stahler, Sebastian Stintzing\",\"doi\":\"10.1007/s00117-025-01454-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The introduction of new DNA sequencing technologies has led to the discovery of many prognostically and predictively relevant biomarkers in tumor tissue and blood from patients with colorectal cancer.</p><p><strong>Objectives: </strong>Presentation of meaningful tissue-based molecular pathological diagnostics and discussion of the clinical application of circulating tumor DNA (ctDNA) from liquid biopsies in colorectal cancer.</p><p><strong>Materials and methods: </strong>Evaluation of existing literature and congress publications, discussion of post hoc analyses of clinical studies and expert recommendations.</p><p><strong>Results: </strong>In Union for International Cancer Control (UICC) stages II/III, the tissue-based evaluation of microsatellite instability (MSI-H) contributes to individual therapy optimization through advice on adjuvant chemotherapy (colon cancer, UICC II) or, if necessary, individual neo-adjuvant therapy concepts via the use of immunotherapy (colon, rectal cancer, UICC II/III). From liquid biopsies, ctDNA was associated with minimal residual disease, which influences disease-free survival. In the metastatic stage (UICC IV), tissue-based determination of RAS and BRAF V600E mutations, MSI‑H and in the near future also HER2/neu overexpression should be performed. Broader molecular diagnostics to optimize first-line therapy (molecular hyperselection) shows little additional benefit. ctDNA can be used for longitudinal monitoring of clonal tumor evolution or as an alternative to invasive diagnostics in patients.</p><p><strong>Conclusions: </strong>Molecular pathological diagnostics from tissue and blood complement each other and should be used in a targeted and meaningful way according to the underlying question.</p>\",\"PeriodicalId\":74635,\"journal\":{\"name\":\"Radiologie (Heidelberg, Germany)\",\"volume\":\" \",\"pages\":\"410-415\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Radiologie (Heidelberg, Germany)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00117-025-01454-w\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiologie (Heidelberg, Germany)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00117-025-01454-w","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[Molecular testing and liquid biopsies in colorectal cancer].
Background: The introduction of new DNA sequencing technologies has led to the discovery of many prognostically and predictively relevant biomarkers in tumor tissue and blood from patients with colorectal cancer.
Objectives: Presentation of meaningful tissue-based molecular pathological diagnostics and discussion of the clinical application of circulating tumor DNA (ctDNA) from liquid biopsies in colorectal cancer.
Materials and methods: Evaluation of existing literature and congress publications, discussion of post hoc analyses of clinical studies and expert recommendations.
Results: In Union for International Cancer Control (UICC) stages II/III, the tissue-based evaluation of microsatellite instability (MSI-H) contributes to individual therapy optimization through advice on adjuvant chemotherapy (colon cancer, UICC II) or, if necessary, individual neo-adjuvant therapy concepts via the use of immunotherapy (colon, rectal cancer, UICC II/III). From liquid biopsies, ctDNA was associated with minimal residual disease, which influences disease-free survival. In the metastatic stage (UICC IV), tissue-based determination of RAS and BRAF V600E mutations, MSI‑H and in the near future also HER2/neu overexpression should be performed. Broader molecular diagnostics to optimize first-line therapy (molecular hyperselection) shows little additional benefit. ctDNA can be used for longitudinal monitoring of clonal tumor evolution or as an alternative to invasive diagnostics in patients.
Conclusions: Molecular pathological diagnostics from tissue and blood complement each other and should be used in a targeted and meaningful way according to the underlying question.