CD6, CD6 molecule, 923

N. diseases: 216; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Childhood acute lymphoblastic leukemia (ALL) with t(12;21), which results in expression of the ETV6/RUNX1 fusion gene, is the most common chromosomal lesion in precursor-B (pre-B) ALL. 26580398 2015
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE A search in the literature revealed two additional pediatric patients with cryptic der(6)t(X;6) in t(12;21)-positive ALLs. 27215399 2016
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE A significant association was observed between higher expression levels of miR-196b and T-ALL, miR-100 and patients with low white blood cell count at diagnosis and t(12;21) positive ALL. 22099053 2012
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE A total of 69 patients of B lineage ALL, 35 children (32 males, 3 females) and 34 young adults (27 males, 7 females) were studied by multiplex RT-PCR to determine the relative frequency of t(9;22), t(12;21), t(1;19), and t(4;11,). 15114604 2004
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Although deletion of ETV6 and t(12;21) were associated in most patients, in eight cases (six B lineage and two T-ALL) LOH was detected at the ETV6 locus without ETV6-AML1 hybrid RNA. 9305598 1997
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Although only one case of ALL with t(12;21) has been reported previously, the present results suggest that t(12;21) is a recurrent translocation in ALL. 7515661 1994
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Although the true pathogenetic significance of the mutations must await future functional evaluations, this study provides a first estimate of the mutational burden at the genetic level of t(12;21)-positive childhood ALL. 22094584 2012
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Among these fusion genes, the TEL/AML1 translocation resulting from t(12;21) is found in approximately one quarter of the childhood B-cell lineage acute lymphoblastic leukemia (ALL) cases and its prognosis is excellent. 9277052 1997
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE CpG island methylator phenotype redefines the prognostic effect of t(12;21) in childhood acute lymphoblastic leukemia. 16914570 2006
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Cryptic t(12;21)(p12-13;q22) leading to TEL-AML1 fusion has recently been recognized as the most frequent genetic rearrangement in childhood acute lymphoblastic leukemia (ALL) in Western countries. 8751462 1996
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Detection of t(12;21) in childhood acute lymphoblastic leukemia by fluorescence in situ hybridization. 10198615 1999
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Detection of early precursors of t(12;21) positive pediatric acute lymphoblastic leukemia during follow-up. 19813247 2010
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Eleven patients with pro-B cell or B cell type ALL (9 children with ALL, 2 adults with ALL) had numerical changes of chromosome 21 (gain 1 or 2 chromosome 21), among them, 10 patients had no structural alteration of chromosome 21, and one was combined by t (12; 21). 14527352 2003
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Fluorescence in situ hybridization (FISH) analysis was applied to detect t(12;21) using two yeast artificial chromosome probes and cosmid probes covering the TEL(ETV6) and the AML1 gene to clarify the incidence of abnormality of t(12;21) in Japanese childhood acute lymphoblastic leukemia (ALL). 9738986 1998
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE Folylpolyglutamate synthetase (FPGS) activity was higher in B vs T lineage ALL (p<0.005), MTX influx and FPGS activity were higher in hyperdiploid vs non-hyperdiploid ALL (p<0.03), MTX influx and FPGS activity were lower in the t(12;21) (ETV6-RUNX1) subtype (p<0.05), and the ratio of FPGS to γ-glutamyl hydrolase (GGH) activity was lower in the t(1;19) (TCF3-PBX1) subtype (p<0.03) than other genetic subtypes. 21152005 2010
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Forty-one of the patients had chromosome 21 abnormalities, including t(8;21) in 6 of the patients with AML, t(12;21) in 8 patients with ALL, acquired trisomy 21 in 17 patients, tetrasomy 21 in 7 patients, and constitutional trisomy 21 (Down syndrome) in 3 patients. 11023523 2000
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Further research is needed to explore whether the 2 to 7 years age incidence peak in childhood ALL harbor yet unidentified cytogenetic subsets with the same natural history as the high-hyperdiploid and t(12;21)-positive leukemias. 16912588 2006
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Genes that were differentially expressed between BCP ALL subtypes were enriched to distinct signaling pathways with dic(9;20) enriched to TP53 signaling, t(9;22) to interferon signaling, as well as high hyperdiploidy and t(12;21) to apoptosis signaling. 22173241 2012
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Half of the karyotypically "normal" ALL cases examined have been found to have abnormal clones with t(12;21) rearrangement and/or hyperdiploidy by this specially designed FISH assay. 12847317 2003
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE High expression levels of TEL-AML1 [hazard ratio (HR), 1.3; 95% confidence interval (95% CI), 1.10-1.57; P = 0.003], AML1-TEL (HR, 4.9; 95% CI, 1.99-12.40; P = 0.001) and AML1 (HR, 1.1; 95% CI, 1.03-1.22; P = 0.006) were associated with a poor long-term clinical outcome within t(12;21)+ ALL. 15837750 2005
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE In B-ALL KIBRA methylation was associated with ETV6/RUNX1 [t(12;21) (p13;q22)] chromosomal translocation (p = 0.0082) phenotype, suggesting that KIBRA may play an important role in t(12;21) leukemogenesis. 21173572 2011
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE In comparison with Western cohorts, the incidence of t(9;22) (q34;q11)/BCR-ABL (14.60%) in B-ALL and HOX11 expression in T-ALL (25.24%) seemed to be much higher in our group, while the incidence of t(12;21) (p13;q22)/ETV6-RUNX1 (15.34%) seemed to be lower in Chinese pediatric patients. 22382891 2012
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE In order to characterize the incidence of the t(12;21) at both the chromosomal level as well as the RNA transcript level, we have used a combination of classical cytogenetics, reverse transcriptase-polymerase chain reaction (RT-PCR), and fluorescence in situ hybridization (FISH) to examine the bone marrow of 34 children diagnosed with B-cell precursor ALL. 8913730 1996
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE In order to investigate whether the t(12;21) could give a molecular clue as to the precise basis of the etiologic association between DS and acute lymphoblastic leukemia, we tested a series of 11 consecutive cases of ALL in DS children for the presence of the TEL/AML1 transcript, by RT-PCR analysis. 9177434 1997
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE In ten of twelve patients with t(12;21)+ ALL we observed concordance with rapid blast reduction in nine, and high-level persistence in one case. 16627248 2006