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Virchows Archiv

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02.08.2019 | Original Article

Molecular profiling of clear cell adenocarcinoma of the urinary tract

verfasst von: Chieh-Yu Lin, Atif Saleem, Henning Stehr, James L. Zehnder, Benjamin A. Pinsky, Christian A. Kunder

Erschienen in: Virchows Archiv | Ausgabe 6/2019

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Abstract

Clear cell adenocarcinoma (CCA) of the urinary tract is a rare type of malignancy whose molecular profiles remain undefined. Here we reported an integrated clinicopathologic and molecular profiling analysis of four cases of clear cell adenocarcinoma arising in the urethra or the bladder. Utilizing a clinically validated 130-gene exon-sequencing assay, we identified recurrent pathogenic PIK3CA (p. E545K) and KRAS (p.G12D) variants in three of four (75%) of the cases. In addition, an APC variant (P.S2310X), a TP53 variant (p.R273C), and a MYC amplification event were identified. The only CCA case without either PIK3CA or KRAS variants has a distinct pathogenesis through BK virus, demonstrated by positive BK virus PCR and SV40 immunohistochemistry. The novel finding of recurrent variants in the PI3K/AKT/mTOR pathway provides not only insights into oncogenesis but also potential clinical therapeutic targets for patients with clear cell adenocarcinoma of the urinary tract.

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Titel: Molecular profiling of clear cell adenocarcinoma of the urinary tract
verfasst von: Chieh-Yu Lin
Atif Saleem
Henning Stehr
James L. Zehnder
Benjamin A. Pinsky
Christian A. Kunder
Publikationsdatum: 02.08.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 6/2019
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-019-02634-5

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

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Molecular profiling of clear cell adenocarcinoma of the urinary tract

Abstract

Neu im Fachgebiet Pathologie

Assistierter Suizid durch Infusion von Thiopental

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Abstract

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