|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among the 5-point mutations in the PML part of PML-RARA identified in patients with relapsed APL, we found that A216V, S214L, and A216T mutations could attenuate the negative regulation of arsenic on PML-RARA, resulting in the retention of oncoproteins.
|
26537301 |
2016 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The NPM-RAR fusion protein associated with the t(5;17) variant of APL does not interact with PML.
|
16504291 |
2006 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that RAR-alpha gene rearrangements are relevant diagnostic features of both M3 and M3v, and may prove useful molecular marker for follow-up analysis in APL patients.
|
1911341 |
1991 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Overcoming this differentiation arrest has the potential to improve the long-term survival of patients, as is the case in acute promyelocytic leukemia (APL), which is characterized by a chromosomal translocation involving the retinoic acid receptor alpha gene.
|
30940908 |
2019 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Acute promyelocytic leukemia (APL) is characterized by a specific chromosome translocation t(15;17), which results in the fusion of the promyelocytic leukemia gene (PML) and retinoic acid receptor alpha gene (RARalpha).
|
12207890 |
2002 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The chromosomal translocation t(15;17)(q22;q12) is a consistent feature of acute promyelocytic leukemia (APL) that results in the disruption of genes for the zinc finger transcription factor PML and the retinoic acid receptor alpha (RAR alpha).
|
7759992 |
1995 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The variant acute promyelocytic leukemia (APL) translocation t(5;17)(q35;q21) fuses the N-terminus of nucleophosmin (NPM1) to the retinoic acid receptor alpha (RARA).
|
26754533 |
2016 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data emphasize the benefit of using complementary molecular methods including tCGH for detecting cryptic and variant PML-RARA translocations in unusual cases of APL.
|
23370423 |
2013 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed the existence of hybrid transcripts of 276, 455 bp and 623 bp, from PML-RARA on the der(15) chromosome, consistent with alternate exon splicing of the long form of the transcript occurring in 50% to 60% of patients with APL.
|
8180390 |
1994 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BCOR as a novel fusion partner of retinoic acid receptor alpha in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia.
|
20807888 |
2010 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This novel PRKAR1A-RARA gene rearrangement is the fifth variant APL in which the RARA partner gene has been identified and the second known rearrangement of PRKAR1A in a malignant disease.
|
17712046 |
2007 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The characteristic balanced 15;17 translocation, t(15;17), of acute promyelocytic leukemia (APL) fuses the retinoic acid receptor alpha (RAR alpha) gene on chromosome 17 to PML, a recently described gene of unknown function, on chromosome 15.
|
8152276 |
1994 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Acute promyelocytic leukemia (APL) is associated with reciprocal chromosomal translocations always involving the retinoic acid receptor alpha (RARalpha) gene on chromosome 17 and variable partner genes (X genes) on distinct chromosomes.
|
11257111 |
2001 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Bone marrow examination revealed the presence of atypical promyelocytes with Auer rods; cytogenetics showed t(15;17), and molecular analysis detected promyelocytic leukemia-retinoic acid receptor alpha rearrangement.
|
10203104 |
1999 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Acute promyelocytic leukaemia (APL) with t(15;17);PML-RARα (n = 7/18; 39%) harboured the highest frequency of FLT3 mutations, followed by myelomonocytic (n = 4/18; 22%) and AML with t(8;21);RUNX1-RUNX1T1 (n = 2/21; 9%).
|
21387358 |
2011 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
They performed whole genome sequencing and copy number analysis of a well-characterized APL mouse model to uncover somatic mutations in Jak1 and lysine (K)-specific demethylase 6A (Kdm6a, also known as Utx) in mice with APL and validated the ability of Jak1 mutations to cooperate with PML-RARA in APL.
|
21436577 |
2011 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, flourescence in situ hybridization (FISH) and reverse transcriptase polymerase chain reaction (RT-PCR) studies were negative for transcripts promyelocytic leukemia (<i>PML</i>) gene and retinoic acid receptor alpha (<i>RARA</i>) or <i>PML-RARA</i> fusion.
|
31371984 |
2019 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The transcriptional repressor PLZF was identified by its translocation with retinoic acid receptor alpha in t(11;17) acute promyelocytic leukemia (APL).
|
14645547 |
2003 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
APL is associated with a reciprocal chromosomal translocation t(15,17) which has been shown to disrupt the retinoic acid receptor alpha (RAR alpha) gene.
|
7920173 |
1994 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PML-RARα kinetics and impact of FLT3-ITD mutations in newly diagnosed acute promyelocytic leukaemia treated with ATRA and ATO or ATRA and chemotherapy.
|
27133819 |
2016 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
APL associated with t(11;17) and fusion of the PLZF and RAR alpha genes is a discrete clinico-pathologic syndrome with a distinctly worse prognosis than t(15;17) APL.
|
7849296 |
1995 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This represents a rare case of APL with a cryptic PML-RARA rearrangement presenting as myeloid sarcoma at multiple relapses and involving multiple anatomical sites, including cardiac atrium.
|
20513534 |
2010 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Secondly, the 15;17 chromosomal translocation specific for APL leads at the molecular genetic level to a chimeric gene fusing the PML and RAR alpha genes and appears to be an instrumental, if not actually the causative event, in the neoplastic process.
|
7500643 |
1995 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
APL is also associated with a specific chromosomal translocation t(15;17) which fuses the retinoic acid receptor alpha (RAR alpha) gene with a chromosome 15q locus, PML.
|
7719245 |
1995 |
|
Acute Promyelocytic Leukemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The unique t(15;17) of acute promyelocytic leukemia (APL) fuses the PML gene with the retinoic acid receptor alpha (RAR alpha) gene.
|
9192750 |
1997 |