000303976 001__ 303976 000303976 005__ 20250823114645.0 000303976 0247_ $$2doi$$a10.1136/bmjgast-2024-001671 000303976 0247_ $$2pmid$$apmid:40840958 000303976 037__ $$aDKFZ-2025-01745 000303976 041__ $$aEnglish 000303976 082__ $$a610 000303976 1001_ $$aLange, Sebastian$$b0 000303976 245__ $$aPrecision oncology for advanced-stage adenocarcinoma of the appendix: comprehensive molecular characterisation identifies actionable lesions and potential predictive biomarkers. 000303976 260__ $$aLondon$$bBMJ Publishing Group$$c2025 000303976 3367_ $$2DRIVER$$aarticle 000303976 3367_ $$2DataCite$$aOutput Types/Journal article 000303976 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1755867859_13624 000303976 3367_ $$2BibTeX$$aARTICLE 000303976 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000303976 3367_ $$00$$2EndNote$$aJournal Article 000303976 520__ $$aAppendiceal adenocarcinoma is a rare cancer with very limited therapeutic options. We aimed to determine whether molecular profiling of advanced appendiceal adenocancer can identify actionable therapeutic alterations.We retrospectively analysed cohorts from two large German precision oncology programmes. Patient records and pathology reports from 19 patients with advanced appendiceal adenocarcinoma who were enrolled between 2015 and 2021 were included in this study. We report the molecular features, the resulting molecular tumour board recommendations and their clinical implementation.In 95% of the tumours, at least one potentially actionable alteration was identified, including mutations in ATM, PIK3CA and AKT1. An elevated tumour mutational burden was identified in 26% of the tumours. A total of 74% of all patients received a molecularly driven treatment recommendation, of which 2 (11%) received the recommended therapy.Molecular profiling of appendiceal adenocarcinomas revealed potentially actionable alterations in a number of cases. 000303976 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0 000303976 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de 000303976 650_7 $$2Other$$aCANCER 000303976 650_7 $$2Other$$aCOLORECTAL NEOPLASIA 000303976 650_7 $$2Other$$aMOLECULAR PATHOLOGY 000303976 650_7 $$2NLM Chemicals$$aBiomarkers, Tumor 000303976 650_7 $$0EC 2.7.1.137$$2NLM Chemicals$$aClass I Phosphatidylinositol 3-Kinases 000303976 650_7 $$0EC 2.7.1.137$$2NLM Chemicals$$aPIK3CA protein, human 000303976 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aAtaxia Telangiectasia Mutated Proteins 000303976 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aATM protein, human 000303976 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aProto-Oncogene Proteins c-akt 000303976 650_2 $$2MeSH$$aHumans 000303976 650_2 $$2MeSH$$aAppendiceal Neoplasms: genetics 000303976 650_2 $$2MeSH$$aAppendiceal Neoplasms: pathology 000303976 650_2 $$2MeSH$$aAppendiceal Neoplasms: therapy 000303976 650_2 $$2MeSH$$aFemale 000303976 650_2 $$2MeSH$$aMale 000303976 650_2 $$2MeSH$$aAdenocarcinoma: genetics 000303976 650_2 $$2MeSH$$aAdenocarcinoma: pathology 000303976 650_2 $$2MeSH$$aAdenocarcinoma: therapy 000303976 650_2 $$2MeSH$$aAdenocarcinoma: drug therapy 000303976 650_2 $$2MeSH$$aRetrospective Studies 000303976 650_2 $$2MeSH$$aMiddle Aged 000303976 650_2 $$2MeSH$$aPrecision Medicine: methods 000303976 650_2 $$2MeSH$$aAged 000303976 650_2 $$2MeSH$$aBiomarkers, Tumor: genetics 000303976 650_2 $$2MeSH$$aMutation 000303976 650_2 $$2MeSH$$aClass I Phosphatidylinositol 3-Kinases: genetics 000303976 650_2 $$2MeSH$$aAdult 000303976 650_2 $$2MeSH$$aNeoplasm Staging 000303976 650_2 $$2MeSH$$aAged, 80 and over 000303976 650_2 $$2MeSH$$aAtaxia Telangiectasia Mutated Proteins: genetics 000303976 650_2 $$2MeSH$$aProto-Oncogene Proteins c-akt: genetics 000303976 650_2 $$2MeSH$$aGermany 000303976 7001_ $$aLisiecki, Hannah$$b1 000303976 7001_ $$0P:(DE-He78)e5972dddc3c8d1412db29ba54fed83ba$$aKreutzfeldt, Simon$$b2 000303976 7001_ $$0P:(DE-He78)1464357f7ec5faf677a390a414e50c88$$aHeining, Christoph$$b3 000303976 7001_ $$aWeiss, Lena$$b4 000303976 7001_ $$0P:(DE-HGF)0$$aWestphalen, Christoph Benedikt$$b5 000303976 7001_ $$aStenzinger, Albrecht$$b6 000303976 7001_ $$0P:(DE-He78)a5218e4871866cd5ab2312e594ca403d$$aHübschmann, Daniel$$b7$$udkfz 000303976 7001_ $$aJesinghaus, Moritz$$b8 000303976 7001_ $$0P:(DE-He78)157277fe62f07df1732f9d126a51d1b9$$aGlimm, Hanno$$b9 000303976 7001_ $$0P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aFröhling, Stefan$$b10 000303976 7001_ $$aPfarr, Nicole$$b11 000303976 7001_ $$0P:(DE-HGF)0$$aSchlitter, Anna Melissa$$b12 000303976 773__ 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