000153234 001__ 153234 000153234 005__ 20240229123042.0 000153234 0247_ $$2doi$$a10.1002/ijc.32882 000153234 0247_ $$2pmid$$apmid:31970771 000153234 0247_ $$2ISSN$$a0020-7136 000153234 0247_ $$2ISSN$$a1097-0215 000153234 0247_ $$2altmetric$$aaltmetric:74440280 000153234 037__ $$aDKFZ-2020-00267 000153234 041__ $$aeng 000153234 082__ $$a610 000153234 1001_ $$0P:(DE-He78)c741dc7f974390ad4310349f29aac40b$$aBochtler, Tilmann$$b0$$eFirst author$$udkfz 000153234 245__ $$aIntegrated clinico-molecular characterization identifies RAS activation and CDKN2A deletion as independent adverse prognostic factors in cancer of unknown primary. 000153234 260__ $$aBognor Regis$$bWiley-Liss$$c2020 000153234 3367_ $$2DRIVER$$aarticle 000153234 3367_ $$2DataCite$$aOutput Types/Journal article 000153234 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1601299989_21251 000153234 3367_ $$2BibTeX$$aARTICLE 000153234 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000153234 3367_ $$00$$2EndNote$$aJournal Article 000153234 500__ $$a2020 Jun 1;146(11):3053-3064#EA:A360#LA:A360# 000153234 520__ $$aCancer of unknown primary (CUP) denotes a malignancy with histologically confirmed metastatic spread while the primary tumor remains elusive. Here, we address prognostic and therapeutic implications of mutations and copy number variations (CNVs) detected in tumor tissue in the context of a comprehensive clinical risk assessment. Targeted panel sequencing was performed in 252 CUP patients. 71.8% of patients had unfavorable CUP according to ESMO guidelines. 74.7% were adeno- and 13.7% squamous cell carcinomas. DNA was extracted from micro-dissected formalin-fixed, paraffin-embedded tissues. For library preparation, mostly multiplex PCR-based Ion Torrent AmpliSeqTM technology with Oncomine comprehensive assays was used. Most frequent genetic alterations were mutations/deletions of TP53 (49.6%), CDKN2A (19.0%) and NOTCH1 (14.1%) as well as oncogenic activation of KRAS (23.4%), FGFR4 (14.9%) and PIK3CA (10.7%). KRAS activation was predominantly found in adenocarcinomas (P=0.01), PIK3CA activation in squamous cell carcinomas (P=0.03). Male sex, high ECOG score, unfavorable CUP, higher number of involved organs and RAS activation predicted decreased event-free and overall survival in multivariate analysis. Deletions of CDKN2A were prognostically adverse regarding overall survival. TP53 mutations did not significantly influence prognosis in the overall cohort, but worsened prognosis in otherwise favorable CUP subtypes. Although not standard in CUP, for 17/198 (8.6%) patients molecularly targeted treatment was recommended and 10 patients (5.1%) were treated accordingly. In conclusion, besides the identification of drug targets, panel sequencing in CUP is prognostically relevant, with RAS activation and CDKN2A deletion emerging as novel independent risk factors in a comprehensive assessment with clinico-pathological data. This article is protected by copyright. All rights reserved. 000153234 536__ $$0G:(DE-HGF)POF3-311$$a311 - Signalling pathways, cell and tumor biology (POF3-311)$$cPOF3-311$$fPOF III$$x0 000153234 588__ $$aDataset connected to CrossRef, PubMed, 000153234 7001_ $$0P:(DE-HGF)0$$aReiling, Anna$$b1 000153234 7001_ $$00000-0003-2550-3563$$aEndris, Volker$$b2 000153234 7001_ $$0P:(DE-He78)743a4a82daab55306a2c88b9f6bf8c2f$$aHielscher, Thomas$$b3$$udkfz 000153234 7001_ $$aVolckmar, Anna-Lena$$b4 000153234 7001_ $$aNeumann, Olaf$$b5 000153234 7001_ $$aKirchner, Martina$$b6 000153234 7001_ $$00000-0002-1959-2240$$aBudczies, Jan$$b7 000153234 7001_ $$aHeukamp, Lukas C$$b8 000153234 7001_ $$aLeichsenring, Jonas$$b9 000153234 7001_ $$aAllgäuer, Michael$$b10 000153234 7001_ $$00000-0001-8187-3281$$aKazdal, Daniel$$b11 000153234 7001_ $$0P:(DE-He78)3d0bd280b309d8ef615f728f271a8595$$aLöffler, Harald$$b12 000153234 7001_ $$0P:(DE-He78)891da714b7f7991d9c4c1d5224c991e7$$aWeichert, Wilko$$b13$$udkfz 000153234 7001_ $$aSchirmacher, Peter$$b14 000153234 7001_ $$00000-0003-1001-103X$$aStenzinger, Albrecht$$b15 000153234 7001_ $$0P:(DE-He78)493c5fbf69f1b20df6f048712f3ad4a0$$aKrämer, Alwin$$b16$$eLast author$$udkfz 000153234 773__ $$0PERI:(DE-600)1474822-8$$a10.1002/ijc.32882$$gp. ijc.32882$$n11$$p3053-3064$$tInternational journal of cancer$$v146$$x1097-0215$$y2020 000153234 909CO $$ooai:inrepo02.dkfz.de:153234$$pVDB 000153234 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)c741dc7f974390ad4310349f29aac40b$$aDeutsches Krebsforschungszentrum$$b0$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-HGF)0$$aDeutsches Krebsforschungszentrum$$b1$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$60000-0003-2550-3563$$aDeutsches Krebsforschungszentrum$$b2$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)743a4a82daab55306a2c88b9f6bf8c2f$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)3d0bd280b309d8ef615f728f271a8595$$aDeutsches Krebsforschungszentrum$$b12$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)891da714b7f7991d9c4c1d5224c991e7$$aDeutsches Krebsforschungszentrum$$b13$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$60000-0003-1001-103X$$aDeutsches Krebsforschungszentrum$$b15$$kDKFZ 000153234 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)493c5fbf69f1b20df6f048712f3ad4a0$$aDeutsches Krebsforschungszentrum$$b16$$kDKFZ 000153234 9131_ $$0G:(DE-HGF)POF3-311$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vSignalling pathways, cell and tumor biology$$x0 000153234 9141_ $$y2020 000153234 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz 000153234 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS 000153234 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline 000153234 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database 000153234 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bINT J CANCER : 2017 000153234 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List 000153234 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index 000153234 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection 000153234 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded 000153234 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences 000153234 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews 000153234 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bINT J CANCER : 2017 000153234 9202_ $$0I:(DE-He78)A360-20160331$$kA360$$lKKE Mol. 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