|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality involving the ETS transcription factor ETV6 and meningioma 1 (MN1) genes.
|
29273914 |
2018 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chromosomal aberrations at the ETV6 gene locus on 12p13.2 are common in bone marrow samples involved by blastic plasmacytoid dendritic cell neoplasm (BPDCN).
|
30248580 |
2018 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Prognostic variables studied included minimal residual disease (MRD) as detected by <i>ETV6/RUNX1</i> (+) fusion, and the presence of additional cytogenetic abnormalities.
|
27506214 |
2017 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The t(12;21) (p13;q22) chromosomal translocation resulting in the <i>ETV6/RUNX1</i> fusion gene is the most frequent structural cytogenetic abnormality in children with acute lymphoblastic leukemia (ALL).
|
29029492 |
2017 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Secondary chromosomal aberrations are necessary for development of overt leukemia in t(12;21)/ETV6-RUNX1-positive acute lymphoblastic leukemia (ALL).
|
27215399 |
2016 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
TEL-AML1 fusion oncogene (t 12; 21) is the most common chromosomal abnormality in childhood acute lymphoblastic leukemia (ALL).
|
24870754 |
2014 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved.
|
21720744 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Genome-wide analysis of cytogenetic aberrations in ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia.
|
22404039 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life.
|
22715224 |
2011 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Multivariate analysis incorporating age, white-cell count, and treatment parameters showed that six cytogenetic abnormalities (ETV6-RUNX1, high hyperdiploidy, iAMP21, t(9;22), loss of 13q, and abnormal 17p) retained their significance for effect on relapse risk.
|
20409752 |
2010 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The highest observed numerical chromosome abnormality was high hyperdiploidy in 89 patients (54%) with abnormal karyotype while the TEL-AML fusion was the highest observed structural abnormality.
|
20357498 |
2010 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The most frequent cytogenetic abnormalities were ETV6/RUNX1 fusion (16%) and trisomy 8 (14.6%).
|
20085575 |
2010 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL; 12p13) genes, detectable only by fluorescence in situ hybridization (FISH), in a patient with Philadelphia-negative chronic myeloid leukemia (CML).
|
19480935 |
2009 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The t(7;12)(q36;p13) is one of the recurrent cytogenetic abnormalities that involves the ETV6 gene.
|
19446746 |
2009 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
With reverse transcriptase polymerase chain reaction, the ETV6-NTRK3 transcript was absent in 3 COIM and was detected in 3 CIFS; the other CIFS had typical cytogenetic aberrations.
|
19006426 |
2009 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
It was also good for those with TEL/AML1 present in >or=80% of cells without chromosome aberrations.
|
18633615 |
2008 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Screening for the prognostically important chromosome abnormalities (TEL-AML1, BCR-ABL, E2A-PBX1, and MLL) using multiplex reverse-transcription polymerase chain reaction was performed on 299 consecutive patients with ALL at 3 study centers (236 de novo, 63 at relapse), with the ethnic composition predominantly Chinese (51.8%) and Malay (34.8%).
|
17230064 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
When cell lines and clinical samples were studied together, we found that each chromosomal abnormality (TEL/AML1, BCR/ABL, or MLL abnormalities) was associated with a characteristic gene expression signature that was shared by both cell lines and clinical samples.
|
14525776 |
2004 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The t(12;21)(p13;q22) translocation is the most common chromosomal abnormality yet identified in any pediatric leukemia and gives rise to the TEL-AML1 fusion product.
|
14726384 |
2004 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The t (12;21) was the commonest chromosomal anomaly detected in this population; 14 out of the 45 pediatric patients (31%) were positive for TEL/AML1 fusion, among which three had an additional derivative 21 [t (12;21)], four had a deletion of 12p and two had an extra copy of chromosome 21.
|
14527352 |
2003 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments.
|
12136233 |
2002 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We conclude that the radioprotective function of the Tel1 protein includes suppression of apoptosis and suppression of chromosome aberrations, and that both cellular end-points can be uncoupled from ionizing radiation-induced cell cycle checkpoints.
|
11820740 |
2001 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1.
|
10602411 |
1999 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, using fluorescence in situ hybridization (FISH) and by screening for the TEL/AML1 rearrangement by the polymerase chain reaction (PCR), it has been demonstrated to be the most frequent known structural chromosomal abnormality in childhood acute lymphoblastic leukemia (ALL).
|
9389711 |
1997 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The t(12;21) is a recurring chromosomal abnormality in acute lymphoblastic leukaemias (ALLs) which results in the production of an ETV6-AML1 fusion gene.
|
9233592 |
1997 |