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 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 AlteredExpression disease BEFREE Treatment of neuroblastoma cells with MY10 or MY33-3 also increased levels of phosphorylated ALK and TrkA. 29753117 2018
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 AlteredExpression disease BEFREE However, we delineated a reduced sensitivity of ALK mutated NB cells to entrectinib, and demonstrated strong activation of autophagy in SH-SY5YF1174L NB cell line. 26735175 2016
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 Biomarker disease BEFREE Focal aberrations affect genes known to be involved in neuroblastoma, such as ALK and LIN28B. 30375995 2018
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 Biomarker disease BEFREE ALK copy number changes and amplification, which plays an oncogenic role in tumors such as neuroblastoma, are poorly characterized in NSCLC. 21107285 2011
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 AlteredExpression disease BEFREE A recently approved small-molecule inhibitor of ALK has shown promising preclinical activity for neuroblastoma and is currently in phase I and II trials. 22589483 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Collectively, our IPP analysis provides insight into the proximal architecture of oncogenic ALK signaling by revealing IRS2 as an adaptor protein that links ALK to neuroblastoma cell survival through the Akt-FoxO3 signaling axis. 30459283 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 Biomarker disease BEFREE As a receptor tyrosine kinase of insulin receptor (IR) subfamily, anaplastic lymphoma kinase (ALK) has been validated to play important roles in various cancers, especially anaplastic large cell lymphoma (ALCL), nonsmall cell lung cancer (NSCLC), and neuroblastomas. 31419130 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 AlteredExpression disease BEFREE It is now also appreciated that the full-length ALK receptor can be activated by point mutations and by deletions within the extracellular domain, such as those observed in neuroblastoma. 23889739 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Activating mutations in full length anaplastic lymphoma kinase (ALK) have been reported in neuroblastoma and in anaplastic thyroid cancer. 28030793 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 AlteredExpression disease BEFREE In the presence of ALK<sup>F1174L</sup> signaling, MYCN induces the expression of the ubiquitin ligase SKP2 (S-phase kinase-associated protein 2), which targets p27 for degradation and is also upregulated in high-risk NB. 27707976 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE We present the development of the first small molecule degraders that can induce anaplastic lymphoma kinase (ALK) degradation, including in non-small-cell lung cancer (NSCLC), anaplastic large-cell lymphoma (ALCL), and neuroblastoma (NB) cell lines. 29660984 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Regarding the latter, although it has been shown that Notch2 functions as a receptor in neuroblastoma cells, it is likely that other receptors (e.g. anaplastic lymphoma kinase) are also involved in midkine signalling. 24116381 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE The results suggest that alectinib is an effective inhibitor of ALK kinase activity in ALK addicted neuroblastoma and should be considered as a potential future therapeutic option for ALK-positive neuroblastoma patients alone or in combination with other treatments. 31334113 2019
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 AlteredExpression disease BEFREE ALK protein expression could be considered as a marker related to the aggressive neuroblastoma, but it was not the independent prognostic factor for the outcome. 28546523 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Our findings suggest that D5F3 immunohistochemistry, single-color CISH and IT-PGM sequencing are suitable assays for evaluation of ALK status in future neuroblastoma clinical trials. 25188507 2014