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| Verfasst von: | Thierauf, Julia [VerfasserIn]  |
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| | Farahani, Alex A. [VerfasserIn] |
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| | Indave, B. Iciar [VerfasserIn] |
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| | Bard, Adam Z. [VerfasserIn] |
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| | White, Valerie A. [VerfasserIn] |
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| | Smith, Cameron R. [VerfasserIn] |
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| | Marble, Hetal [VerfasserIn] |
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| | Hyrcza, Martin D. [VerfasserIn] |
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| | Chan, John K. C. [VerfasserIn] |
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| | Bishop, Justin [VerfasserIn] |
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| | Shi, Qiuying [VerfasserIn] |
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| | Ely, Kim [VerfasserIn] |
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| | Agaimy, Abbas [VerfasserIn] |
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| | Martinez-Lage, Maria [VerfasserIn] |
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| | Nose, Vania [VerfasserIn] |
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| | Rivera, Miguel [VerfasserIn] |
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| | Nardi, Valentina [VerfasserIn] |
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| | Dias-Santagata, Dora [VerfasserIn] |
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| | Garg, Salil [VerfasserIn] |
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| | Sadow, Peter [VerfasserIn] |
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| | Le, Long P. [VerfasserIn] |
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| | Faquin, William [VerfasserIn] |
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| | Ritterhouse, Lauren L. [VerfasserIn] |
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| | Cree, Ian A. [VerfasserIn] |
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| | Iafrate, A. John [VerfasserIn] |
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| | Lennerz, Jochen K. [VerfasserIn] |
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| Titel: | Diagnostic value of MAML2 rearrangements in mucoepidermoid carcinoma |
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| Verf.angabe: | Julia C. Thierauf, Alex A. Farahani, B. Iciar Indave, Adam Z. Bard, Valerie A. White, Cameron R. Smith, Hetal Marble, Martin D. Hyrcza, John K.C. Chan, Justin Bishop, Qiuying Shi, Kim Ely, Abbas Agaimy, Maria Martinez-Lage, Vania Nose, Miguel Rivera, Valentina Nardi, Dora Dias-Santagata, Salil Garg, Peter Sadow, Long P. Le, William Faquin, Lauren L. Ritterhouse, Ian A. Cree, A. John Iafrate and Jochen K. Lennerz |
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| E-Jahr: | 2022 |
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| Jahr: | 13 April 2022 |
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| Umfang: | 17 S. |
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| Fussnoten: | Gesehen am 31.05.2022 |
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| Titel Quelle: | Enthalten in: International journal of molecular sciences |
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| Ort Quelle: | Basel : Molecular Diversity Preservation International, 2000 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 23(2022), 8, Artikel-ID 4322, Seite 1-17 |
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| ISSN Quelle: | 1422-0067 |
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| | 1661-6596 |
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| Abstract: | Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from the more aggressive adenosquamous carcinoma (ASC) is not straightforward. To assess the diagnostic relevance of MAML2, we examined our 5-year experience in prospective testing of 8106 solid tumors using RNA-seq panel testing in combinations with a two-round Delphi-based scenario survey. The prevalence of MAML2+ across all tumors was 0.28% (n = 23/8106) and the majority of MAML2+ cases were found in head and neck tumors (78.3%), where the overall prevalence was 5.9% (n = 18/307). The sensitivity of MAML2 for MEC was 60% and most cases (80%) were submitted for diagnostic confirmation; in 24% of cases, the MAML2 results changed the working diagnosis. An independent survey of 15 experts showed relative importance indexes of 0.8 and 0.65 for “confirmatory MAML2 testing” in suspected MEC and ASC, respectively. Real-world evidence confirmed that the added value of MAML2 is a composite of an imperfect confirmation test for MEC and a highly specific exclusion tool for the diagnosis of ASC. Real-world evidence can help move a rare molecular-genetic biomarker from an emerging tool to the clinic. |
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| DOI: | doi:10.3390/ijms23084322 |
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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 ; Verlag: https://doi.org/10.3390/ijms23084322 |
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| | Volltext: https://www.mdpi.com/1422-0067/23/8/4322 |
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| | DOI: https://doi.org/10.3390/ijms23084322 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | adenosquamous |
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| | biomarker |
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| | CRTC |
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| | fusion gene |
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| | molecular testing |
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| | mucoepidermoid |
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| | next-generation sequencing |
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| K10plus-PPN: | 1805305271 |
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| Verknüpfungen: | → Zeitschrift |
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Diagnostic value of MAML2 rearrangements in mucoepidermoid carcinoma / Thierauf, Julia [VerfasserIn]; 13 April 2022 (Online-Ressource)
