Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Anaplastic large cell lymphoma (ALCL) is a subtype of aggressive non-Hodgkin's lymphoma that is characterized by expression of CD30 and the NPM/ALK chimeric protein, which is generated by t(2;5)(p23;q35). 16533741 2005
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE The NPM/ALK fusion gene, formed by the t(2;5) translocation in anaplastic large-cell lymphoma, encodes a M(r) 75,000 hybrid protein that containsthe amino-terminal portion of the nucleolar phosphoprotein nucleophosmin(NPM) joined to the entire cytoplasmic portion of the receptor tyrosine kinase anaplastic lymphoma kinase (ALK). 11522649 2001
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Fusion of the NPM and ALK genes was detected in three of 18 patients with ALCL who had amplifiable DNA (17%, 95% confidence intervals 4% to 41%), but not in any patients with other NHL, HD, or lymphomatoid papulosis. 8781434 1996
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE The anaplastic lymphoma kinase (ALK), a transmembrane RTK, originally identified in the nucleophosmin (NPM)-ALK chimera of anaplastic large cell lymphoma, has emerged as a novel tumorigenic player in several human cancers. 21502284 2011
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Frequently ALCL carry the t(2;5) translocation, which fuses the ALK gene to the nucleophosmin (NPM1) gene. 20554525 2010
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE About half of ALCL patients bear the t(2;5)(p23;q35) translocation, which results in the formation of the nucleophosmin-anaplastic lymphoma tyrosine kinase (NPM-ALK) fusion protein (ALCL ALK(+)). 25820993 2015
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE For example, genetic alterations have been discovered, including signal transducer and activator of transcription (STAT)3 and STAT5b mutations in several PTCLs, disease-specific ras homolog family member A (RHOA) mutations in angioimmunoblastic T cell lymphoma (AITL), and recurrent translocations at the dual specificity phosphatase 22 (DUSP22) locus in anaplastic lymphoma receptor tyrosine kinase (ALK)-negative anaplastic large cell lymphomas (ALCLs). 26431836 2015
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Although based on a single case, these data indicate that structural rather than numerical abnormalities of the ALK gene are implicated in the pathogenesis of anaplastic large cell lymphomas. 11215285 2001
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Assessment of t(2;5)(p23;q35) translocation and variants in pediatric ALK+ anaplastic large cell lymphoma. 15080301 2004
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 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
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE This case underscores the importance of recognition of close correlation between dual ALK and MYC rearrangements and the characteristic clinical features in this unusual ALCL variant. 23619105 2013
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE In view of these chromosomal aberrations, the CD30+ ALCLs represent a heterogeneous group because 15% to 50% express the NPM/ALK fusion gene. 9561912 1998
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Only few recurrent cytogenetic aberrations have been identified in the T-cell NHL and the best known is the ALK gene translocation t(2;5)(p23;q35) in anaplastic large cell lymphoma. 27910030 2017
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE When OTX015 was associated with GANT61, a selective GLI1/2 inhibitor, C1156Y-resistant ALK ALCL growth was impaired.These findings support OTX015 clinical trials in refractory ALCL in combination with inhibitors of interleukin-2-inducible kinase or SHH/GLI1. 27793034 2016
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE More than 60% of anaplastic large-cell lymphomas (Ki-1 lymphoma) are associated with a t(2;5)(p23;q35) translocation that produces an 80 kDa hyperphosphorylated chimeric protein (p80) derived from the fusion of the anaplastic lymphoma kinase (ALK) with nucleophosmin (NPM). 9337149 1997
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Identification of C/EBPβ target genes in ALK+ anaplastic large cell lymphoma (ALCL) by gene expression profiling and chromatin immunoprecipitation. 23741337 2013
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Diversity of genomic breakpoints in TFG-ALK translocations in anaplastic large cell lymphomas: identification of a new TFG-ALK(XL) chimeric gene with transforming activity. 11943732 2002
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE However, ALK rearrangements are also implicated in other malignancies, including anaplastic large-cell lymphoma and inflammatory myofibroblastic tumors (IMTs). 29352732 2018
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE The expected 177 bp product indicative of the NPM-ALK rearrangement was identified in Karpas 299 and SUDHL-1 cell lines and in two out of eight ALCLs. 8683377 1996
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Leukemic phase of ALCL occurs almost exclusively in patients with ALK+ ALCL, most often associated with the small cell variant and the t(2;5)(p23;q35), similar to the present case. 19432678 2009
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 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
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE ALK kinase domain mutations in primary anaplastic large cell lymphoma: consequences on NPM-ALK activity and sensitivity to tyrosine kinase inhibitors. 25874976 2015
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE The t(2;5) (p23;q35) translocation, resulting in the fusion of the nucleophosmin (NPM) gene and the anaplastic lymphoma kinase (ALK) gene, is associated with primary CD30+ ALCL. 9274957 1997
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Over the last few years, studies have demonstrated the occurrence of autophagy in different Anaplastic Lymphoma Kinase (ALK)-associated cancers, notably ALK-positive anaplastic large cell lymphoma (ALCL), non-small cell lung carcinoma (NSCLC), Neuroblastoma (NB), and Rhabdomyosarcoma (RMS). 29186933 2017
Ki-1+ Anaplastic Large Cell Lymphoma
0.600 GeneticVariation disease BEFREE Our data show that NPM-ALK gene transcripts are identified in a subpopulation of ALCL, almost exclusively in T or null cell in origin, and in rare cases of HD. 8562933 1996