ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE In this issue of Science Signaling, Umapathy et al. identify the kinase extracellular signal-regulated kinase 5 (ERK5) as a central mediator that enables ALK to boost MYCN expression, and they show that inhibiting ERK5 in concert with ALK reduced neuroblastoma cell viability in vitro and in xenograft tumor models. 25351246 2014
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 AlteredExpression disease BEFREE CHD9, a cancer driver gene, was the most significantly altered (4.0% of cases) after ALK.Other genes (PTK2, NAV3, NAV1, FZD1 and ATRX), expressed in neuroblastoma and involved in cell invasion and migration were mutated at frequency ranged from 4% to 2%.Focal adhesion and regulation of actin cytoskeleton pathways, were frequently disrupted (14.1% of cases) thus suggesting potential novel therapeutic strategies to prevent disease progression.Notably BARD1, CHEK2 and AXIN2 were enriched in rare, potentially pathogenic, germline variants.In summary, whole exome and deep targeted sequencing identified novel cancer genes of clinically aggressive neuroblastoma. 27009842 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Our study provides strong rationale for clinical trial of ALK-positive neuroblastoma using ibrutinib or the combination of ibrutinib and ALK inhibitors. 30013190 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE We review the basic aspects of MYCN, Trk, and ALK in both neural development and in neuroblastoma. 30848386 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE In particular, for the latter, given the frequency of ALK gene deregulation in neuroblastoma patients, we discuss on second-generation ALK inhibitors in preclinical or clinical phases developed for the treatment of neuroblastoma patients resistant to crizotinib.We summarise how Omics drive clinical trials for neuroblastoma treatment and how much the research of biological targets is useful for personalised medicine. 28178969 2017
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 AlteredExpression disease BEFREE ALK is also found expressed in neural crest-derived tumors such as human neuroblastomas or glioblastomas but its role is not fully elucidated. 17611412 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 PosttranslationalModification disease BEFREE Expression of the ALK tyrosine kinase gene in neuroblastoma. 10793082 2000
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE The observed unexpected upregulation of ADM warrants further investigation in relation to putative ALK resistance in neuroblastoma patients currently undergoing ALK inhibitor treatment. 29290991 2017
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 Biomarker disease BEFREE The second-generation ALK inhibitor alectinib effectively induces apoptosis in human neuroblastoma cells and inhibits tumor growth in a TH-MYCN transgenic neuroblastoma mouse model. 28455243 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 AlteredExpression disease BEFREE Here, we show that both wild-type and gain-of-function mutants in ALK are able to stimulate transcription at the MYCN promoter and initiate mRNA transcription of the MYCN gene in both neuronal and neuroblastoma cell lines. 22286764 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Developing approaches to neuroblastoma include those that target the catecholamine transporter, ubiquitin E3 ligase, the ganglioside GD2, the retinoic acid receptor, the protein kinases ALK and Aurora, and protein arginine N-methyltransferases. 28800395 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 AlteredExpression disease BEFREE IHC confirmed the diagnosis by detecting the expression of ALK protein.After ALK positivity was proven, the effectiveness and safety of the crizotinib therapy was examined in 4 patients (1 alveolar rhabdomyosarcoma (RMA), 1 embryonal rhabdomyosarcoma (RME), 1 inflammatory myofibroblastic tumor (IMT), 1 NBL). 29081033 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Mechanisms of acquired resistance to ALK inhibition therapy in neuroblastoma have not yet been elucidated. 31614113 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE These data support the concept of ALK-targeted immunotherapy as a highly promising therapeutic strategy for neuroblastomas with mutated or wild-type ALK. 22266870 2012
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 Biomarker disease BEFREE Relative to free ALK-siRNA, anti-GD₂-targeted liposomal formulations of ALK-siRNA had low plasma clearance, increased siRNA stability, and improved binding, uptake, silencing and induction of cell death, and specificity for NB cells.In NB xenografts, intravenous (i.v.) injection of the targeted ALK-siRNA liposomes showed gene-specific antitumor activity with no side effects. 21487394 2011
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 Biomarker disease BEFREE The Anaplastic Lymphoma Kinase (<i>ALK</i>) gene is frequently altered in NB, through copy number alterations and activating mutations, and represents a predisposition in NB-genesis when mutated. 31058082 2019
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