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000271246 245__ $$aGenomic ALK alterations in primary and relapsed neuroblastoma.
000271246 260__ $$aEdinburgh$$bNature Publ. Group$$c2023
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000271246 500__ $$a2023 Apr;128(8):1559-1571
000271246 520__ $$aGenomic alterations of the anaplastic lymphoma kinase gene (ALK) occur recurrently in neuroblastoma, a pediatric malignancy of the sympathetic nervous system. However, information on their development over time has remained sparse.ALK alterations were assessed in neuroblastomas at diagnosis and/or relapse from a total of 943 patients, covering all stages of disease. Longitudinal information on diagnostic and relapsed samples from individual patients was available in 101 and 102 cases for mutation and amplification status, respectively.At diagnosis, ALK point mutations occurred in 10.5% of all cases, with highest frequencies in stage 4 patients <18 months. At relapse, ALK alteration frequency increased by 70%, both in high-risk and non-high-risk cases. The increase was most likely due to de novo mutations, frequently leading to R1275Q substitutions, which are sensitive to pharmacological ALK inhibition. By contrast, the frequency of ALK amplifications did not change over the course of the disease. ALK amplifications, but not mutations, were associated with poor patient outcome.The considerably increased frequency of ALK mutations at relapse and their high prevalence in young stage 4 patients suggest surveying the genomic ALK status regularly in these patient cohorts, and to evaluate ALK-targeted treatment also in intermediate-risk patients.
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000271246 7001_ $$00000-0002-8391-5577$$aFassunke, Jana$$b1
000271246 7001_ $$aErnst, Angela$$b2
000271246 7001_ $$aSchömig-Markiefka, Birgid$$b3
000271246 7001_ $$aMerkelbach-Bruse, Sabine$$b4
000271246 7001_ $$aBartenhagen, Christoph$$b5
000271246 7001_ $$aCartolano, Maria$$b6
000271246 7001_ $$00000-0002-5869-7344$$aAckermann, Sandra$$b7
000271246 7001_ $$aTheissen, Jessica$$b8
000271246 7001_ $$0P:(DE-He78)261d2b84aded878003e6e35d18113831$$aBlattner-Johnson, Mirjam$$b9$$udkfz
000271246 7001_ $$0P:(DE-He78)fae1bf941c5fd76cf5356ecfa1243cc4$$aJones, Barbara$$b10$$udkfz
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000271246 7001_ $$aAltmüller, Janine$$b12
000271246 7001_ $$aNürnberg, Peter$$b13
000271246 7001_ $$aOrtmann, Monika$$b14
000271246 7001_ $$aBerthold, Frank$$b15
000271246 7001_ $$00000-0002-5243-5503$$aPeifer, Martin$$b16
000271246 7001_ $$00000-0001-8806-4786$$aBüttner, Reinhard$$b17
000271246 7001_ $$aWestermann, Frank$$b18
000271246 7001_ $$aSchulte, Johannes H$$b19
000271246 7001_ $$00000-0002-3425-8451$$aSimon, Thorsten$$b20
000271246 7001_ $$aHero, Barbara$$b21
000271246 7001_ $$00000-0003-1363-1242$$aFischer, Matthias$$b22
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