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| Verfasst von: | Ahadova, Aysel [VerfasserIn]  |
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| | Pfuderer, Pauline Luise [VerfasserIn] |
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| | Ahtiainen, Maarit [VerfasserIn] |
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| | Ballhausen, Alexej [VerfasserIn] |
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| | Bohaumilitzky, Lena [VerfasserIn] |
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| | Kösegi, Svenja [VerfasserIn] |
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| | Müller, Nico [VerfasserIn] |
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| | Tang, Yee Lin [VerfasserIn] |
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| | Kosmalla, Kosima [VerfasserIn] |
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| | Witt, Johannes [VerfasserIn] |
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| | Endris, Volker [VerfasserIn] |
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| | Stenzinger, Albrecht [VerfasserIn] |
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| | Knebel Doeberitz, Magnus von [VerfasserIn] |
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| | Bläker, Hendrik [VerfasserIn] |
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| | Renkonen-Sinisalo, Laura [VerfasserIn] |
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| | Lepistö, Anna [VerfasserIn] |
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| | Böhm, Jan [VerfasserIn] |
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| | Mecklin, Jukka-Pekka [VerfasserIn] |
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| | Seppälä, Toni T. [VerfasserIn] |
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| | Kloor, Matthias [VerfasserIn] |
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| Titel: | Distinct mutational profile of lynch dyndrome colorectal cancers diagnosed under regular colonoscopy surveillance |
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| Verf.angabe: | Aysel Ahadova, Pauline Luise Pfuderer, Maarit Ahtiainen, Alexej Ballhausen, Lena Bohaumilitzky, Svenja Kösegi, Nico Müller, Yee Lin Tang, Kosima Kosmalla, Johannes Witt, Volker Endris, Albrecht Stenzinger, Magnus von Knebel Doeberitz, Hendrik Bläker, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Toni T. Seppälä and Matthias Kloor |
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| E-Jahr: | 2021 |
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| Jahr: | 1 June 2021 |
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| Umfang: | 17 S. |
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| Fussnoten: | Gesehen am 26.01.2022 ; This article belongs to the special issue "Recent advances in colorectal carcinogenesis and prevention" |
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| Titel Quelle: | Enthalten in: Journal of Clinical Medicine |
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| Ort Quelle: | Basel : MDPI, 2012 |
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| Jahr Quelle: | 2021 |
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| Band/Heft Quelle: | 10(2021), 11, special issue, Artikel-ID 2458, Seite 1-17 |
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| ISSN Quelle: | 2077-0383 |
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| Abstract: | Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs (n total = 95). Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p < 0.0005). The majority of incident cancers (21/28) were detected after previous colonoscopy without any pathological findings. On the molecular level, incident cancers presented with a significantly lower KRAS codon 12/13 (1/23, 4.3% vs. 11/21, 52%; p = 0.0005) and pathogenic TP53 mutation frequency (0/17, 0% vs. 7/21, 33.3%; p = 0.0108,) compared to prevalent cancers; 10/17 (58.8%) incident cancers harbored one or more truncating APC mutations, all showing mutational signatures of mismatch repair (MMR) deficiency. The proportion of MMR deficiency-related mutational events was significantly higher in incident compared to prevalent CRC (p = 0.018). In conclusion, our study identifies a set of features indicative of biological differences between incident and prevalent cancers in LS, which should further be monitored in prospective LS screening studies to guide towards optimized prevention protocols. |
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| DOI: | doi:10.3390/jcm10112458 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.3390/jcm10112458 |
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| | Volltext: https://www.mdpi.com/2077-0383/10/11/2458 |
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| | DOI: https://doi.org/10.3390/jcm10112458 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | cancer prevention |
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| | carcinogenesis |
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| | colonoscopy screening |
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| | colorectal cancer |
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| | incident cancer |
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| | Lynch syndrome |
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| | microsatellite instability |
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| | mismatch repair deficiency |
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| | mutational profiling |
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| K10plus-PPN: | 1787224430 |
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| Verknüpfungen: | → Zeitschrift |
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Distinct mutational profile of lynch dyndrome colorectal cancers diagnosed under regular colonoscopy surveillance / Ahadova, Aysel [VerfasserIn]; 1 June 2021 (Online-Ressource)
