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 CausalMutation disease CGI
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 AlteredExpression disease BEFREE While the constitutive activation of chimeric NPM-ALK molecules could be shown, no evidence was found for induced or constitutively activated ALK receptors in neuroblastoma, melanoma or breast carcinoma cell lines. 12115586 2002
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 AlteredExpression disease LHGDN ALK-ShcC signal activation, possibly caused by co-amplification with the N-myc gene, might give additional effects on malignant tumor progression of neuroblastoma. 12185581 2002
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE ALK-ShcC signal activation, possibly caused by co-amplification with the N-myc gene, might give additional effects on malignant tumor progression of neuroblastoma. 12185581 2002
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 AlteredExpression disease BEFREE The aberrant expression of full-length ALK receptor proteins has been reported in neuroblastomas and glioblastomas, while the occurrence of ALK fusion proteins in anaplastic large cell lymphoma (ALCL) has resulted in the identification of the new tumor entity, ALK-positive ALCL. 15583856 2004
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE These data demonstrate the limited frequency of ALK activation in the real progression of neuroblastoma. 15972965 2005
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 AlteredExpression disease LHGDN In contrast to agonist monoclonal antibodies, both Pleiotrophin.15 and Pleiotrophin.18 failed to activate ALK in neuroblastoma and glioblastoma cells expressing this receptor. 17904822 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE In contrast to agonist monoclonal antibodies, both Pleiotrophin.15 and Pleiotrophin.18 failed to activate ALK in neuroblastoma and glioblastoma cells expressing this receptor. 17904822 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease LHGDN These findings suggest that a subset of lung cancers, lymphomas, and neuroblastomas that harbor genomic ALK alterations may be clinically responsive to pharmacologic ALK inhibition. 18451166 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE These findings suggest that a subset of lung cancers, lymphomas, and neuroblastomas that harbor genomic ALK alterations may be clinically responsive to pharmacologic ALK inhibition. 18451166 2008
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 SomaticCausalMutation disease ORPHANET Germline mutations were observed in two neuroblastoma families, indicating that ALK is a neuroblastoma predisposition gene. 18923523 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE Germline mutations were observed in two neuroblastoma families, indicating that ALK is a neuroblastoma predisposition gene. 18923523 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 SusceptibilityMutation disease ORPHANET Germline mutations were observed in two neuroblastoma families, indicating that ALK is a neuroblastoma predisposition gene. 18923523 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Here we show that the anaplastic lymphoma kinase (ALK), originally identified as a fusion kinase in a subtype of non-Hodgkin's lymphoma (NPM-ALK) and more recently in adenocarcinoma of lung (EML4-ALK), is also a frequent target of genetic alteration in advanced neuroblastoma. 18923524 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE Thus, activating alleles of the ALK receptor tyrosine kinase are present in primary neuroblastoma tumours and in established neuroblastoma cell lines, and confer sensitivity to ALK inhibition with small molecules, providing a molecular rationale for targeted therapy of this disease. 18923525 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease LHGDN Here we report the detection of previously unknown mutations in the ALK gene, which encodes a receptor tyrosine kinase, in 8% of primary neuroblastomas. 18923525 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. 18990089 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE More recently, genomic DNA amplification and protein overexpression, as well as activating point mutations, of ALK have been described in neuroblastomas. 19275511 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE The case of the anaplastic lymphoma kinase (ALK) nicely exemplifies this, and cell line profiling has revealed that ALK mutations present in a subset of anaplastic large cell lymphomas (ALCLs), non-small cell lung cancers (NSCLCs), and neuroblastomas appear to sensitize cancer cells to treatment with selective ALK kinase inhibitors. 19393834 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Our data suggest that copy number aberrations of the ALK gene is a frequent genetic event in the development of neuroblastomas. 19656550 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE ALK protein expression was significantly up-regulated in advanced/metastatic compared with localized NBLs (ALK overexpressing patients: stage 1-2, 23.5%; stage 3-4, 77%; P < 0.0001). 19723661 2009
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