BCR, BCR activator of RhoGEF and GTPase, 613

N. diseases: 392; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE CML transformation to lymphoid blast phase (BP) is associated with copy number abnormalities, characteristic of BCR-ABL1 positive acute lymphoblastic leukemia, but not of CML in the chronic phase. 30511400 2019
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The studies were conducted by using (i) primary CML-CP stem/early progenitor cells and normal hematopoietic counterparts isolated from the bone marrow of newly diagnosed patients with CML-CP and from healthy donors, respectively, (ii) CML-blast phase cell lines (K562 and KCL-22), and (iii) from <i>BCR-ABL1</i>-transformed 32Dcl3 cell line. 31614827 2019
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE While most blast crises are of myeloid origin, myeloid BC with ALL-like morphologic features and Ph-positive acute myeloid leukemia (AML) is rare, especially at the time of CML diagnosis. 31218758 2019
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Bosutinib, a BCR-ABL1 tyrosine kinase inhibitor (TKI), has been available for several years as a treatment for chronic-, accelerated-, and blast-phase chronic myeloid leukemia (CML), for patients with resistance or intolerance to prior therapy. 30587215 2018
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE This case illustrates the major interest of interphase FISH for BCR-ABL1 rearrangement on blood neutrophils as a decisive method to discriminate a lymphoid blast crisis of CML from a de novo BCR-ABL1 positive ALL. 28444777 2018
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase. 28551329 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We report here the first use of whole-genome sequencing (WGS) to examine the initial clonal dynamics in an unusual patient with chronic myeloid leukemia (CML), who presented in chronic phase (CP) with doubly marked BCR-ABL1<sup>+</sup>/JAK2<sup>V617F</sup>-mutant cells and, over a 9-year period, progressed into an accelerated phase (AP) and then terminal blast phase (BP). 28602946 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE These patients have <i>BCR-ABL1</i>-positive clonal hematopoiesis resembling a chronic myeloid leukemia (CML)-like disease manifesting in "lymphoid blast crisis." 28331056 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 AlteredExpression disease BEFREE Furthermore, Gadd45a expression in samples obtained from CML patients was upregulated in more indolent chronic phase CML samples and down regulated in aggressive accelerated phase CML and blast crisis CML. 28086219 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE According to the 2008 World Health Organization (WHO) Classification of Tumors of the Haematopoietic and Lymphoid Tissues, the finding of B lymphoblasts in the blood or bone marrow of a patient with chronic myelogenous leukemia, BCR-ABL1+ (CML) should raise a concern for progression of the disease to B-lymphoblastic blast phase. 25916436 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 AlteredExpression disease BEFREE Here, we show that the expression of WASP decreases with the progression of CML, inversely correlates with the expression of BCR-ABL1 and is particularly low in blast crisis. 29022901 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Management of CML-blast crisis. 27839570 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE We demonstrated that expression of the Ik6 transcript, which lacked exons 3-6, was observed exclusively in BCR-ABL1(+) B ALL and lymphoid blast crisis CML (BC-CML) patients harbouring the IKZF1 Δ3-6 deletion. 27198500 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE BCR-ABL1-Abl1(-/-) cells generated highly aggressive chronic myeloid leukemia (CML)-blast phase-like disease in mice compared with less malignant CML-chronic phase-like disease from BCR-ABL1-Abl1(+/+) cells. 26864341 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Case of CML lymphoid blast crisis presenting as bilateral breast masses. 27511749 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Allogeneic transplantation, which over a decade ago was considered the definitive therapy for CML, is now appropriately used in cases where all TKIs are not tolerated, in cases of resistance to TKI therapy, or when the disease progresses from chronic phase to accelerated or blast phase. 27521333 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE In this study, we investigated the distribution and clonality of the TCR Vβ repertoire in 4 cases with imatinib-resistant CML in blast crisis (BC-CML) with abelson murine leukemia viral oncogene homolog 1 (ABL1) kinase domain mutations (KDMs). 26423566 2015
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is thought to be sufficient to cause chronic phase (CP) CML, whereas additional genetic lesions are needed for progression into CML BC. 25501026 2014
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We demonstrate that FoxO3a activation in CML blast crisis (BC) cells by overexpressing FoxO3a leads to the maturation of CML BC cells. 23915976 2013
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE As tyrosine kinase inhibitors (TKIs) fail to induce long-term response in blast crisis chronic myelogenous leukemia (CML-BC) and Philadelphia chromosome-positive (Ph(+)) acute lymphoblastic leukemia (ALL), novel therapies targeting leukemia-dysregulated pathways are necessary. 23970380 2013
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE These LSCs or their progeny may at some stage acquire additional genetic changes that cause the leukemia to transform further, from CML-CP to a more advanced phase, which has been subclassified as either accelerated phase (CML-AP) or blastic phase (CML-BP). 22328017 2012
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Patients with chronic myelogenous leukemia (CML) in blast crisis have a poor response to tyrosine kinase inhibitors designed to inhibit the breakpoint cluster region-v-Abelson murine leukemia viral oncogene homolog 1 (BCR-ABL1) oncogene. 22139798 2012
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Distinct groups were examined: (1) acquired clinical resistance because of blast crisis and/or BCR-ABL1 mutations; and (2) documented imatinib discontinuation/interruption. 22431575 2012
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We also observed satisfied therapy effects of As(2)O(3) and imatinib on patients with CML blast crisis. 21570118 2011
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE In rare cases of myeloid malignancies, the BCR-ABL1 fusion was reported to cooperate as class-I-mutation with class-II-mutations, but most cases had to be classified as blast phase of chronic myeloid leukaemia (CML). 21275954 2011