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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
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000303976 520__ $$aAppendiceal adenocarcinoma is a rare cancer with very limited therapeutic options. We aimed to determine whether molecular profiling of advanced appendiceal adenocancer can identify actionable therapeutic alterations.We retrospectively analysed cohorts from two large German precision oncology programmes. Patient records and pathology reports from 19 patients with advanced appendiceal adenocarcinoma who were enrolled between 2015 and 2021 were included in this study. We report the molecular features, the resulting molecular tumour board recommendations and their clinical implementation.In 95% of the tumours, at least one potentially actionable alteration was identified, including mutations in ATM, PIK3CA and AKT1. An elevated tumour mutational burden was identified in 26% of the tumours. A total of 74% of all patients received a molecularly driven treatment recommendation, of which 2 (11%) received the recommended therapy.Molecular profiling of appendiceal adenocarcinomas revealed potentially actionable alterations in a number of cases.
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000303976 650_7 $$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
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