|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation frequencies of SF3B1 (9·7%), NOTCH1 (8·6%), BIRC3 (1·1%), ATM (16·9%) or TP53 (8·1%), and frequencies of cytogenetic abnormalities including trisomy 12 (18·6%), del(17p) (10·4%), del(13q) (43·7%) and IGH translocation (10·1%) were comparable to those reported from Western countries, except del(11q) (6·9%) which was lower in our patients.
|
31230372 |
2019 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Prognostic factors such as chromosome abnormalities (trisomy 12, 11q deletions and 17p deletions), β2 microglobulin, thymidine kinase, CD38 and ZAP-70 expression, IGHV mutation status, and mutations in genes such as NOTCH1, MYD88, SF3B1, and ATM are also predictors of prognosis.
|
27742074 |
2016 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The incidence of genetic abnormalities was measured by fluorescence in situ hybridisation (FISH) using a panel of five specific probes: D13S25 (13q14.3), RB1 (13q14), P53 (17p13), ATM (11q22.3) and CSP12 (trisomy 12, +12).
|
27327088 |
2016 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
A robust response to ODN+IL-15 was positively linked to presence of chromosomal anomalies (trisomy-12 or ataxia telangiectasia mutated anomaly + del13q14) and negatively linked to a very high proportion of CD38(+) cells within the blood-derived B-CLL population.
|
26136429 |
2015 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The most common cytogenetic abnormalities with independent prognostic significance in CLL are 13q14, ATM and TP53 deletions and trisomy 12.
|
22228453 |
2012 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Multivariate analysis confirmed a negative impact on TTT for del(11)(q22·3)/ATM, trisomy 12 (both by FISH), and 14q32/IGH-translocations by CBA.
|
22224978 |
2012 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Using FISH, genomic aberrations were found in 73% of patients and presented as follows: single 13q14.3 deletion (60%), trisomy 12 (7%), ATM deletion (6%), 17p13.1 deletion (2%).
|
20093390 |
2010 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
ZAP-70 immunohistochemistry and FISH (deletions of 13q14, p53 and ATM and trisomy 12) were successful in all cases.
|
19826250 |
2010 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Of the 46 cases patients, 10 patients (21.7%) had deletion of the ATM locus at 11q22 and 8 patients (17%) had trisomy 12.
|
19837267 |
2009 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
120 (82%) patients showed genetic changes - del(13)(q14) 95 (62%), deletion of ATM gene 22 (15%), deletion of p53 gene 25 (17%) and trisomy 12 was proved in 18 (12%) cases.
|
18665750 |
2008 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In 28 of 42 chronic lymphocytic leukemia patients with elevated Aurora-A kinase expression, one or more chromosomal abnormalities were detected, including trisomy 12 in 9 patients and deletion of the ataxia telangiectasia-mutated gene in 9 patients.
|
18931650 |
2008 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Deletions affecting chromosome bands 11q22-q23 and 17p13 led to a reduced expression of the corresponding genes, such as ATM and p53, while trisomy 12 resulted in the upregulation of genes mapping to chromosome arm 12q.
|
15459216 |
2004 |