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000143736 0247_ $$2ISSN$$a1879-0852
000143736 0247_ $$2ISSN$$a1879-2995
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000143736 1001_ $$0P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb$$aPfaff, Elke$$b0$$eFirst author$$udkfz
000143736 245__ $$aBrainstem biopsy in pediatric diffuse intrinsic pontine glioma in the era of precision medicine: the INFORM study experience.
000143736 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2019
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000143736 520__ $$aDiffuse intrinsic pontine glioma (DIPG) is a highly aggressive paediatric brain tumour with fatal outcome. The Individualised Therapy For Relapsed Malignancies In Childhood (INFORM) registry study offers comprehensive molecular profiling of high-risk tumours to identify target alterations for potential precision therapy. We analysed molecular characteristics and clinical data after brainstem biopsy of all enrolled newly diagnosed DIPGs.From -February 2015 to February 2018, 21 subsequent primary DIPG cases were enrolled in the nation-wide multicentre INFORM registry study after brainstem biopsy. Whole-genome, whole-exome sequencing and DNA methylation analysis were performed, and RNA-sequencing was added in case of sufficient material. Clinical data were obtained from standardised questionnaires and the INFORM clinical data bank.Tumour material obtained from brainstem biopsy was sufficient for DNA analysis in all cases and RNA analysis in 16 of 21 cases. In 16 of 21 cases (76%), potential targetable alterations were identified including highly relevant MET and NTRK1 fusions as well as an EZH2 alteration not previously described in DIPG. In 5 of 21 cases, molecular information was used for initiation of targeted treatment. The majority of patients (19/21) presented with neurological deficits at diagnosis. Newly arising or worsening of neurological deficits post-biopsy occurred in nine patients. Symptoms were reversible or improved notably in eight cases.In this multicentre study setting, brainstem biopsy of DIPG was feasible and yielded sufficient material for comprehensive molecular profiling. Relevant molecular targets were identified impacting clinical management in a substantial subset. Death or severe bleeding occurred in none of the cases. One of 20 patients experienced unilateral paraesthesia possibly related to biopsy.
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000143736 7001_ $$aEl Damaty, Ahmed$$b1
000143736 7001_ $$0P:(DE-He78)e5bb26ffbde307745ae396c2e829dac5$$aBalasubramanian, Gnana Prakash$$b2$$udkfz
000143736 7001_ $$0P:(DE-HGF)0$$aBlattner-Johnson, Mirjam$$b3
000143736 7001_ $$0P:(DE-He78)fae1bf941c5fd76cf5356ecfa1243cc4$$aWorst, Barbara C$$b4$$udkfz
000143736 7001_ $$0P:(DE-He78)75cc815aba77c01af41fe20138617e9c$$aStark, Sebastian$$b5$$udkfz
000143736 7001_ $$0P:(DE-He78)046fd145f1008f83f6236580727bbc0f$$aWitt, Hendrik$$b6$$udkfz
000143736 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian W$$b7$$udkfz
000143736 7001_ $$0P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271$$avan Tilburg, Cornelis M$$b8$$udkfz
000143736 7001_ $$aWitt, Ruth$$b9
000143736 7001_ $$0P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f$$aMilde, Till$$b10$$udkfz
000143736 7001_ $$aJakobs, Martin$$b11
000143736 7001_ $$0P:(DE-He78)8de7015af76bd61fb0bc13bb3facb1df$$aFiesel, Petra$$b12$$udkfz
000143736 7001_ $$aFrühwald, Michael C$$b13
000143736 7001_ $$aHernáiz Driever, Pablo$$b14
000143736 7001_ $$aThomale, Ulrich W$$b15
000143736 7001_ $$aSchuhmann, Martin U$$b16
000143736 7001_ $$aMetzler, Markus$$b17
000143736 7001_ $$aBochennek, Konrad$$b18
000143736 7001_ $$aSimon, Thorsten$$b19
000143736 7001_ $$aDürken, Matthias$$b20
000143736 7001_ $$aKarremann, Michael$$b21
000143736 7001_ $$aKnirsch, Stephanie$$b22
000143736 7001_ $$aEbinger, Martin$$b23
000143736 7001_ $$avon Bueren, André O$$b24
000143736 7001_ $$aPietsch, Torsten$$b25
000143736 7001_ $$aHerold-Mende, Christel$$b26
000143736 7001_ $$0P:(DE-HGF)0$$aReuss, David E$$b27
000143736 7001_ $$0P:(DE-HGF)0$$aKiening, Karl$$b28
000143736 7001_ $$0P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aLichter, Peter$$b29$$udkfz
000143736 7001_ $$0P:(DE-HGF)0$$aEggert, Angelika$$b30
000143736 7001_ $$aKramm, Christof M$$b31
000143736 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b32$$udkfz
000143736 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b33$$udkfz
000143736 7001_ $$aBächli, Heidi$$b34
000143736 7001_ $$0P:(DE-He78)143af26de9d57bf624771616318aaf7c$$aWitt, Olaf$$b35$$eLast author$$udkfz
000143736 773__ $$0PERI:(DE-600)1468190-0$$a10.1016/j.ejca.2019.03.019$$gVol. 114, p. 27 - 35$$p27 - 35$$tEuropean journal of cancer$$v114$$x0959-8049$$y2019
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