|
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 |
Biomarker
|
phenotype |
BEFREE |
In univariable analyses, mutated ATM (P < 0·001), NOTCH1 (P < 0·001) and SF3B1 (P = 0·002) as well as unmutated IGHV (P < 0·001), del(11q) (P < 0·001) and trisomy 12 (P < 0·001) by hierarchal FISH and advanced Rai (P = 0·05) and Binet (P < 0·001) stages were associated with shorter TTFT.
|
31243771 |
2019 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The data on cytogenetic aberrations (11q22, 13q14, trisomy 12) and IGHV mutation status were also considered in PFS analyses.
|
31054420 |
2019 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
IGHV status did not influence clinical outcomes in trisomy 12 CLL.
|
28641468 |
2018 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
BIRC3 mutations (2.5%) were associated with unmutated IGHV genes (U-CLL), del(11q) and trisomy 12, whereas MYD88 mutations (2.2%) were exclusively found among M-CLL.
|
24943832 |
2015 |
|
Trisomy 12
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
High IGF1R gene expression was significantly associated with IGHV unmutated (IGHV-UM) status (p<0.0001), high CD38 expression (p<0.0001), trisomy 12 (p<0.0001), and del(11)(q23) (p=0.014).
|
25786252 |
2015 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Del(17)(p13.1) predicted shorter PFS and OS (p < 0.0001 for each), as did del(11q)(22.3) (p < 0.0001, p = 0.005, respectively), trisomy 12 with mutated Notch1 (p = 0.003, p = 0.03, respectively) and unmutated IGHV (p = 0.009, p = 0.002, respectively), all relative to patients without these features.
|
25721902 |
2015 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We also identified miRNAs whose expression was distinctive of cases with mutated versus unmutated IGHV genes or cases with 13q, 11q, and 17p deletions and trisomy 12.
|
24916701 |
2014 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Higher CD38 and ZAP-70 expression, del(11)(q22·3) (FISH), trisomy 12 (FISH), and 14q32/IGH-translocations (CBA) were correlated with a shorter TTT in the combined cohort (MBL + CLL); a sole del(13)(q14) (FISH) correlated with longer TTT.
|
22224978 |
2012 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In the CLL cases, the IGH/BCL2 fusion was remarkably associated with trisomy 12 (13/22) and mutated IGHV status (20/21) and did not affect the outcome.
|
22686190 |
2012 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Those involving 14q32/IGH were the most frequent (24 cases), followed by trisomy 12 and 11q abnormalities.
|
19428103 |
2009 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Deletion 13q14.3 was most frequent (10 [56%]; isolated in 8 and with other abnormalities in 2), followed by trisomy 12 (5 [28%]), deletion 11q22.3 (4/16 [25%]), 14q32 (IGH@) translocation (3 [17%]), and deletion 17p13.1 (1/16 [6%]).
|
18794056 |
2008 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Interphase fluorescence in situ hybridization was used to detect common deletions in B-CLL patients as well as trisomy 12 and aberrations of IgH gene complex at 14q32.33 where we evaluated not only translocation-like signal pattern but also deletions.
|
18665750 |
2008 |
|
Trisomy 12
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
CLL-phenotype MBL had a frequency of 13q14 deletion and trisomy 12 similar to that of CLL and showed a skewed repertoire of the immunoglobulin heavy variable group (IGHV) genes.
|
18687638 |
2008 |
|
Trisomy 12
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In contrast, B-CLL cases with trisomy 12 lacking trisomy 19 mostly had unmutated IGHV genes.
|
17593029 |
2007 |