|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The abnormal haemopoietic precursor cells of chronic myeloid leukaemia (CML) carry the cytogenetic abnormality [t(9;22)(q34;q11)]--a reciprocal translocation that results in the expression of a chimaeric protein derived from the fused BCR and ABL genes.
|
14987402 |
2003 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Importantly, loss of Fyn protected mouse embryonic fibroblast cells from increased number of chromosomal aberrations and fragments induced by BCR-ABL1.
|
23284724 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
A different mechanism of oncogene activation in a leukaemia specific chromosomal abnormality is found for CML, where c-abl sequences are fused into the bcr locus, or in the t(4; 11) of acute childhood leukaemia involving the recently identified ALL-1 gene at chromosome 11q23 resulting in a malfunctioning, structurally altered oncogene.
|
8142618 |
1993 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
This in vivo cell line, designated CML-N-1, had Ph1 chromosome abnormality and BCR gene rearrangement.
|
7540608 |
1995 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The AML1 rearrangement in the t(8;21) breakpoint cluster region was not detected in leukemic cells with cytogenetic abnormalities other than t(8;21), or with normal diploidy obtained from 23 AML patients.
|
8453103 |
1993 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Patients with CML/BC and other nonrandom chromosome abnormalities involving chromosome 3q26 should be evaluated for EVI1 expression.
|
8412328 |
1993 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genomic instability is a hallmark of chronic myeloid leukemia in chronic phase (CML-CP) resulting in BCR-ABL1 mutations encoding resistance to tyrosine kinase inhibitors (TKIs) and/or additional chromosomal aberrations leading to disease relapse and/or malignant progression.
|
23543457 |
2013 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The ABL gene on chromosome band 9q34 is a proto-oncogene and is the well-known translocation partner of the BCR gene on 22q11 giving rise to t(9;22)(q34;q11), which is the hallmark of chronic myeloid leukemia and is the most common chromosomal abnormality in adult acute lymphoblastic leukemia (ALL).
|
15282669 |
2004 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The occurrence of Ph-positive CML in a patient with a Robertsonian t(14;15) might indicate increased risk for the development of leukemia in patients with this constitutional chromosome abnormality.
|
3902209 |
1985 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
* Imatinib inhibits the breakpoint cluster region-Abelson (BCR-ABL) tyrosine kinase, which is produced by the chromosomal abnormality known as the Philadelphia (Ph) chromosome in patients with Ph chromosome-positive acute lymphoblastic leukaemia (Ph+ ALL).
|
18034597 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Some karyotypically normal cases and those showing a chromosome abnormality other than the Ph during the chronic phase have shown the same molecular changes as found in Ph positive CML.
|
3279513 |
1988 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
A literature search focused on patients with CML and additional chromosome changes more typical of AML, revealed that the morphology of the blasts correlated with the finding typical of the underlying "AML" cytogenetic abnormality and an overall very poor clinical outcome, even in the groups with "favorable" AML type translocations.
|
16076492 |
2006 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The sensitivity of interphase FISH was compared to that of G-banding analysis in 288 leukemia/lymphoma patients for 10 different types of chromosome aberrations: t(9;22) (M- and m-BCR), t(8;21), 11q23 abnormalities, t(15;17), del(5)/-5, del(13)/-13, +8, -7, and +12.
|
10565297 |
1999 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We report an elderly patient who presented with primary myelofibrosis (MF) with myeloid metaplasia (MMM), associated with idic(17)(p11.2) as the sole chromosomal abnormality, making this the first idic(17)(p11.2) myeloproliferative case reported in which the breakpoints are mapped to the breakpoint cluster region in proximal 17p.
|
16044457 |
2005 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Specifically, it is associated to a particular cytogenetic abnormality, known as Philadelphia chromosome (Ph), which results from a fusion between part of the BCR ("breakpoint cluster region") gene from chromosome 22 and the Abelson (ABL) gene on chromosome 9 and leads to the formation a new gene leukemia-specific, the BCR-ABL.
|
27281463 |
2016 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MRC-cIII-generated ROS promote oxidative DNA damage to trigger genomic instability, resulting in an accumulation of chromosomal aberrations and tyrosine kinase inhibitor-resistant BCR-ABL1 mutants.
|
22411871 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We have detected rearrangement in the breakpoint cluster region (bcr) on chromosome 22 in cells derived from seven chronic myelogenous leukemia (CML) patients who had no cytogenetic evidence of a chromosome abnormality.
|
3171624 |
1988 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Investigation of the molecular events that are associated with the additional cytogenetic abnormalities of blast phase will most likely reveal alterations of other important growth regulatory genes which contribute to the multistep nature of malignant transformation in CML.
|
2182595 |
1990 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
There are real-time PCR methods for patients with CML, AML and ALL patients with inv(16), t(8;21), t(15;17); t(1;19) and other chromosomal aberrations.
|
12430926 |
2002 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Specific subsets of MPAL are defined by chromosomal anomalies such as the t(9;22) Philadelphia chromosome BCR-ABL1 or involvement of the MLL gene on chromosome 11q23.
|
22372202 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report the occurrence of a BCR-JAK2 fusion gene in a case of acute myeloid leukemia (AML) resulting from a t(9;22)(p24;q11) translocation as the sole cytogenetic abnormality.
|
18503828 |
2008 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Approximately 10%-12% of patients in chronic-phase chronic myeloid leukemia (CP-CML) have additional chromosomal aberrations at diagnosis; moreover, CML occurs in up to 10% of pregnancy-associated leukemias, with an annual incidence of 1 per 100,000 pregnancies.
|
28721056 |
2017 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The reported cases of near-haploidy with Ph1-positive CML and those with constitutional translocations with CML have been tabulated and the possible significance of the cytogenetic abnormalities discussed.
|
6932994 |
1980 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Exclusive rearrangement of the minor breakpoint cluster region of the BCR gene and lack of coexpression of myeloid-associated antigens in cases with 9p anomalies as well as a high frequency of rearrangements of the major breakpoint cluster region of the BCR gene in patients with monosomy 7 (89%) further substantiated that additional chromosome aberrations may characterize distinct subgroups of Ph-positive ALL.
|
8982045 |
1996 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report the molecular cytogenetic analysis of a case of Philadelphia (Ph)-negative, BCR-positive chronic myeloid leukemia (CML) which appeared by conventional cytogenetics to have a t(6;9)(p23;q34) as the sole cytogenetic abnormality.
|
7596189 |
1995 |