ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: Neuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Altogether, this study provides novel insights into ALK mutation dynamics in a neuroblastoma model harbouring two ALK mutations. 31452835 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE This small-molecule inhibitor was shown to efficiently inhibit the growth of patient-derived and established neuroblastoma xenograft models expressing mutated ALK. 26747894 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Furthermore, our data represent the first demonstration of ALK-wt transforming capacity, as ALK-wt expression in JoMa1 cells, likewise ALK-F1174L, or ALK-R1275Q, in absence of exogenous Myc-ERT activity, was sufficient to induce the formation of aggressive and undifferentiated neural crest cell-derived tumors, but not to drive NB development. 24947326 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Surprisingly, thoracic neuroblastomas were more likely to harbor ALK driver mutations than adrenal cases among all cases (odds ratio = 1.89, 95% confidence interval = 1.04 to 3.43), and among cases without MYCN amplification (odds ratio = 2.86, 95% confidence interval = 1.48 to 5.49). 30793172 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Here we show that germline mutations in the anaplastic lymphoma kinase (ALK) gene explain most hereditary neuroblastomas, and that activating mutations can also be somatically acquired. 18724359 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Expression of MYCN or ALK(F1174L), one of the oncogenic ALK variants identified in primary neuroblastomas, enabled these cells to grow independently of c-MycER(T) activity in vitro and caused formation of neuroblastoma-like tumors in vivo in contrast to parental JoMa1 cells and JoMa1 cells-expressing TrkA or GFP. 22484425 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Alterations in anaplastic lymphoma kinase (<i>ALK</i>) gene are involved in neuroblastoma, lung cancer, and other malignancies, but its role in SCCP has not been documented. 29559559 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Activating mutations within the full-length ALK kinase domain, most commonly R1275Q and F1174L, which play a major role in neuroblastoma, were recently identified. 20632993 2010
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE As well as MYCN amplification, activating point mutations of ALK and NRAS are associated with high-risk and relapsing neuroblastoma. 28602975 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. 22071890 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Furthermore, deregulation of ALK tyrosine kinase activity is critical for the pathogenesis of several other pediatric tumors, including neuroblastomas and inflammatory myofibroblastic tumors. 23696342 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE The frequency of the ALK mutation was somewhat lower than that expected in Korean patients with NBs. 21940108 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE ALK mutations occur in 10% of primary neuroblastomas and represent a major target for precision treatment. 30538293 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Point mutations and amplification of the ALK gene occur in the childhood cancer neuroblastoma. 20451371 2010
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Here, we evaluated the ALK mutational status of NB samples by analysis of circulating DNA, using the droplet digital PCR (ddPCR) system. ddPCR assays was developed for the detection of ALK mutations at F1174 and R1275 hotspots found in NB tumors and was applied for the analysis of circulating DNA obtained from 200 μL of serum or plasma samples collected from 114 patients with NB. 25653133 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Parallel pre-clinical studies are demonstrating the efficacy of ALK inhibitors against common ALK variants in NB; however, a complex picture of therapeutic resistance is emerging. 29642598 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Approximately 1-2% of neuroblastomas are inherited in an autosomal dominant fashion and a combination of co-morbidity and linkage studies has led to the identification of germline mutations in PHOX2B and ALK as the major genetic contributors to this familial neuroblastoma subset. 29589100 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE We have analyzed tyrosine kinase domain mutations and amplification/expression of the ALK gene and focused on clinical features of neuroblastoma cases with ALK aberrations. 23084186 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Intrinsic susceptibility-MRI could thus potentially provide a non-invasive and clinically-exploitable method to help identifying children with MYCN-driven neuroblastoma harboring the ALK(F1174L) mutation at the time of diagnosis. 24667968 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Activating mutations in the gene encoding the ALK tyrosine kinase receptor predispose for NB. 21989914 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Additionally, patients with confirmed ALK translocations, mutations, or amplification (part A2 of the study) or neuroblastoma (part A3) could enrol at one dose level lower than was currently given in part A1. 23598171 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE An independent resistance screen in ALK-mutant neuroblastoma cells yielded the same L1198P resistance mutation but defined two additional mutations conferring resistance to TAE684 but not to PF02341066. 21948233 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE A variety of human malignancies have anaplastic lymphoma kinase (ALK) translocations, amplifications, or oncogenic mutations, including anaplastic large cell lymphoma, inflammatory myofibroblastic tumors, non-small cell lung cancer, and neuroblastoma. 19737948 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Although it is not yet known if this interaction contributes to neuroblastoma disease pathogenesis, it is intriguing that the interaction occurs at the promoter regions of several genes important for the development of neuroblastoma, including ALK, AURKA and BDNF. 21731748 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE In conclusion, the frequency of ALK mutations in NB is low and solitary copy number change of it is rarely observed. 22085494 2012