Relevant bibliographies by topics / BCR-ABL1 mutation

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'BCR-ABL1 mutation'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "BCR-ABL1 mutation"

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Mian, Afsar Ali, Hadiqa Raees, Sujjawal Ahmad, Oliver Ottmann, and El-Nasir M. A. Lalani. "Arsenic Trioxide Suppresses Growth of BCR-ABL1 Positive Cells with "Gatekeeper" or Compound Mutation." Blood 138, Supplement 1 (2021): 4346. http://dx.doi.org/10.1182/blood-2021-154511.

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Abstract Introduction: Chronic myeloid leukemia (CML) and 30% of adult acute lymphatic leukemia (ALL) are characterized by the Philadelphia chromosome (Ph +), having a (9;22) chromosomal translocation. The BCR-ABL1 fusion protein is the hallmark of Ph + leukemia. BCR-ABL1 is characterized by constitutively activated ABL1 tyrosine kinase activity that determines its transformation potential. Tyrosine kinase inhibitors (TKI) have greatly improved the overall prognosis of these diseases. However, unsatisfactory responses in advanced disease stages, resistance and long-term tolerability of BCR-ABL
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Polivkova, Vaclava, Nikola Curik, Hana Zizkova, et al. "DNA Analysis of Mutations in the Kinase Domain of BCR-ABL1 By Allele-Specific Digital PCR Is Highly Sensitive and Refines Prediction of Kinetics of Resistant CML Clones." Blood 132, Supplement 1 (2018): 1743. http://dx.doi.org/10.1182/blood-2018-99-119710.

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Abstract Introduction: In chronic myeloid leukemia (CML) resistant to tyrosine kinase inhibitors (TKI), detection of mutations in the BCR-ABL1 kinase domain (KD) is routinely performed on transcript level. To determine the level of BCR-ABL1 KD mutation is important to follow kinetics of resistant CML cells and therapeutically prevent progression. However, the mutation types and levels are not always reliable predictors of subsequent dynamics of mutation-bearing clones and of corresponding clinical consequences (Willis, 2005; Khorashad, 2006; Preuner, 2012). DNA analysis enables more precise qu
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Chen, Jiaqi, Qihui Chen, Huan Hu, et al. "High-Accurate Third-Generation Sequencing to Comprehensively Decipher BCR::ABL1 TKIs in-Cis Resistant Mutations." Blood 144, Supplement 1 (2024): 3595. https://doi.org/10.1182/blood-2024-202681.

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Background Drug-resistant mutations in the ABL1 kinase domain (KD) of BCR::ABL1 are primary mechanisms of resistance to tyrosine kinase inhibitor (TKI) therapy in Ph-positive leukemia. These mutations alter the conformation of ABL1 within BCR::ABL1, impairing TKI and thus diminishing their anti-leukemia efficacy. Our previous studies, presented at the 61st and 62nd ASH Annual Meeting, demonstrated the superiority of next-generation sequencing (NGS) over Sanger sequencing for detecting BCR::ABL1-KD mutations. NGS offers higher sensitivity, accurate mutation frequency determination, and the abil
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Morishita, Soji, and Norio Komatsu. "Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms." International Journal of Molecular Sciences 24, no. 16 (2023): 13008. http://dx.doi.org/10.3390/ijms241613008.

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BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are a group of hematopoietic malignancies in which somatic mutations are acquired in hematopoietic stem/progenitor cells, resulting in an abnormal increase in blood cells in peripheral blood and fibrosis in bone marrow. Mutations in JAK2, MPL, and CALR are frequently found in BCR::ABL1-negative MPNs, and detecting typical mutations in these three genes has become essential for the diagnosis of BCR::ABL1-negative MPNs. Furthermore, comprehensive gene mutation and expression analyses performed using massively parallel sequencing have identif
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Li, Jin, Zhenyu Yan, Lin Shi, et al. "Abstract 341: Co-detection of BCR::ABL1 common and atypical fusion and mutation using a novel NGS assay, Dup-Seq BCR-ABL1." Cancer Research 84, no. 6_Supplement (2024): 341. http://dx.doi.org/10.1158/1538-7445.am2024-341.

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Abstract The clinical management of CML and Ph+ ALL patients requires the identification of BCR::ABL1 transcript variants and drug resistance mutations. Currently these assessments need to be performed using separate assays resulting in higher sample requirements, longer turnaround times and higher costs. In this study a custom NGS assay (Dup-Seq BCR-ABL1) was developed and validated that enables co-detection and identification of transcript variants (common and atypical) and resistance mutations. The assay design covers BCR exon 1 to ABL1 exon 10 and employs duplicate PCR amplification of BCR
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Liu, Hongxing, Jiaqi Chen, Fang Wang, et al. "NGS-Based Screening to Comprehensively Decipher TKIs Resistant Mutations in BCR-ABL1 Positive Leukemias." Blood 136, Supplement 1 (2020): 30. http://dx.doi.org/10.1182/blood-2020-140917.

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In BCR-ABL1 positive leukemia, mutations in the BCR-ABL1 kinase domain (KD) are the most common TKIs resistance mechanism. Sanger sequencing (SS) is currently the gold standard for detecting ABL1 KD mutations, but its low detection sensitivity cannot reveal mutations below 20% VAFs (variant allele frequency), and it is challenging to distinguish compound or polyclonal mutations. In recent years, the NGS-based BCR-ABL1 KD mutation screening protocol provides a powerful tool for deciphering complex patterns (compound or polyclonal mutations) and higher detection sensitivity (~2%, hotspot mutatio
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Li, Jin, Weihua Liu, Zhenyu Yan, et al. "Next-Generation Sequencing of the BCR-ABL1 Kinase Domain and Neighboring Domains Associated with Therapy Resistance." Blood 120, no. 21 (2012): 2549. http://dx.doi.org/10.1182/blood.v120.21.2549.2549.

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Abstract Abstract 2549 Background: BCR-ABL1 mutation testing is recommended for CML and Ph+ ALL patients who fail first line tyrosine kinase inhibitor (TKI) therapy or who have a suboptimal response to therapy. BCR-ABL1 mutations in the kinase domain (KD) of ABL1 account for at least 40–50% of all TKI resistant cases. Rare mutations such as E123Q and T212R in the regulatory domain of ABL upstream of the kinase domain have also been reported to lead to resistance to imatinib. The current gold standard for BCR-ABL1 mutation detection is Sanger sequencing, which has an analytical sensitivity of ∼
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Santos, Fabio P. S., Jorge Cortes, Charles Koller, and Elias Jabbour. "Combination Therapy with Tyrosine Kinase Inhibitors and Agents with Different Mechnisms of Actions Is Effective in a Patient with Chronic Myeloid Leukemia Harboring the T315l BCR - ABL1 Mutation." Blood 114, no. 22 (2009): 4282. http://dx.doi.org/10.1182/blood.v114.22.4282.4282.

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Abstract Abstract 4282 Mutations of BCR-ABL1 have been observed in 50% of patients with chronic myeloid leukemia (CML) who develop resistance to imatinib. The gate-keeper mutation T315I is one of the mutations with universal resistance to imatinib and to the second-generation tyrosine kinase inhibitors (TKI) that are approved for the treatment of patients with imatinib failure. The use of new kinase inhibitors with in vitro activity against T315I mutation as well as other agents with different mechanisms of actions is being evaluated in clinical trials. We report the case of a 57-year old man
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Baer, Constance Regina, Claudia Haferlach, Wolfgang Kern, and Torsten Haferlach. "Prospective Next-Generation Sequencing of Mutations in the ABL1 Kinase Domain in CML Patients Lacking Optimal Response According to ELN Guidelines." Blood 128, no. 22 (2016): 3100. http://dx.doi.org/10.1182/blood.v128.22.3100.3100.

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Abstract Background: In chronic myeloid leukemia (CML), mutations in the ABL1 kinase domain cause resistance to tyrosine kinase inhibitors (TKIs), and require therapy intervention. According to ELN guidelines (Baccarani et al., 2013), ABL1 sequencing is recommended for cases of progression, failure and warning. Failure and warning apply to patients, who did not reach treatment milestones or had shown response and subsequently lost it. An increase in BCR-ABL1/ABL1 ratio can be regarded as first alert. Failure is then defined as loss of major molecular response (BCR-ABL1/ABL1 <0.1%) if confir
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Soverini, Simona, Caterina De Benedittis, Luca Zazzeroni, et al. "In Chronic Myeloid Leukemia Patients on 2nd-Line Tyrosine Kinase Inhibitor Therapy, Deep Sequencing at the Time of Warning May Allow Sensitive Detection of Emerging BCR-ABL1 Mutants." Blood 124, no. 21 (2014): 815. http://dx.doi.org/10.1182/blood.v124.21.815.815.

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Abstract Background and Aims: Next generation amplicon-based deep sequencing (DS) on the Roche, Illumina or Ion Torrent instruments is becoming accessible to a wider and wider number of diagnostic laboratories. Although conventional sequencing is still the gold standard, DS has been hailed by many as the future of diagnostic BCR-ABL1 kinase domain (KD) mutation screening. BCR-ABL1 KD mutations are infrequent in newly diagnosed chronic myeloid leukemia (CML) patients (pts) receiving 1st-line TKI therapy, but remain a challenge in relapsed pts, who usually display a greater genetic instability.
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Dissertations / Theses on the topic "BCR-ABL1 mutation"

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Campos, Paula de Melo 1983. "Investigação de vias de sinalização tirosinoquinase em neoplasias mieloproliferativas crônicas BCR-ABL1 negativas : interação JAK2/IRS2 e mutações em KIT." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312628.

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Orientadores: Fabíola Traina, Sara Teresinha Olalla Saad<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-27T21:37:05Z (GMT). No. of bitstreams: 1 Campos_PauladeMelo_D.pdf: 6042513 bytes, checksum: b12134db0721f177eb0c2116e7fdf5e2 (MD5) Previous issue date: 2015<br>Resumo: As neoplasias mieloproliferativas crônicas BCR-ABL1 negativas (NMP) apresentam como característica comum a ocorrência de proliferação celular exacerbada, mantendo a capacidade de diferenciação mieloide terminal. Em parcela significativa dos casos,
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Didone, Alline. "Estudo comparativo entre diferentes metodologias na detecção da mutação JAK2V617F em Neoplasias Mieloproliferativas Crônicas BCR-ABL1 negativo." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/5/5167/tde-03022016-143712/.

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As Neoplasias mieloproliferativas (NMP) representam um vasto grupo de doenças clonais hematológicas malignas com três elementos principais: Policitemia vera (PV), Trombocitemia essencial (TE), e Mielofibrose Primária (MFP). JAK2 é uma proteína citoplasmática com atividade de tirosina quinase com função na transdução de várias vias na hematopoiese. A identificação da mutação do gene JAK2 (JAK2V617F) nas PV, TE e MFP representa um importante avanço para a compreensão da biologia destas NMPs. Variações marcantes na frequência desta mutação são observadas entre os diferentes estudos e acredita-se
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Azevedo, Ana Paula da Silva. "Genetic susceptibility to myeloproliferative neoplasms and therapeutic efficacy." Doctoral thesis, 2018. http://hdl.handle.net/10362/31970.

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RESUMO: As neoplasias mieloproliferativas são classicamente divididas em neoplasias mieloproliferativas BCR-ABL1 (cromossoma Philadelphia) positivas, como é o caso da leucemia mieloide crónica, e BCR-ABL1 negativas, incluindo a policitémia vera, a trombocitémia essencial e a mielofibrose primária. Estas entidades nosológicas têm origem na transformação maligna das stem-cells hematopoiéticas, levando a amplificação anormal e à proliferação das células das linhagens mielóides. A diversidade fenotípica das neoplasias mieloproliferativas Philadelphia negativas resulta da combinação de mutações so
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Book chapters on the topic "BCR-ABL1 mutation"

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Moore, Franklin R., Fei Yang, and Richard D. Press. "Detection of BCR-ABL1 Kinase Domain Mutations Causing Imatinib Resistance in Chronic Myelogenous Leukemia." In Methods in Molecular Biology. Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-357-2_2.

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Tantravahi, Srinivas K., Jamshid S. Khorashad, and Michael W. Deininger. "Genomic landscape of myeloproliferative neoplasms." In Oxford Specialist Handbook: Myeloproliferative Neoplasms. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198744214.003.0002.

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The discovery of the Philadelphia chromosome (Ph) and BCR-ABL1 fusion gene in chronic myeloid leukaemia (CML) was a first step in understanding the genetic basis of myeloproliferative neoplasms (MPN), but it took more than 20 years until the molecular basis of Ph<sup>–</sup> MPN was unravelled with the identification of mutually exclusive mutations in JAK2, MPL, and CALR. The common effect of these mutations, activation of JAK/STAT signalling, informed the therapeutic development of JAK kinase inhibitors. Additional mutations in epigenetic modifier, mRNA splicing, and transcriptional regulator
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Baccarani, Michele, Fausto Castagnetti, Gabriele Gugliotta, Francesca Palandri, Simona Soverini, and Gianantonio Rosti. "Prognostic factors of chronic myeloid leukaemia." In Oxford Specialist Handbook: Myeloproliferative Neoplasms. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198744214.003.0005.

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Two decades following the successful introduction of the ABL tyrosine kinase inhibitors in clinics for the treatment of patients with chronic myeloid leukaemia (CML), the principal objective of treatment in chronic phase (CP) is survival, preferably without life-long therapy. In tandem, the methodology and tools for assessing the prognosis of the newly diagnosed patient with CML in CP has evolved substantially. Prior to the era of tyrosine kinase inhibitors (TKIs), risk assessment depended more on the response to treatment than on baseline characteristics. The Sokal score, introduced in 1984,
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Conference papers on the topic "BCR-ABL1 mutation"

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Pricl, Sabrina, Erik Laurini, Maurizio Fermeglia, et al. "Abstract B61: Bcr-Abl1 V304D mutation in CML: friend or foe?" In Abstracts: AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics; November 5-9, 2015; Boston, MA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1535-7163.targ-15-b61.

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Laurini, Erik, Domenico Marson, Silvia Boccardo, Maurizio Fermeglia, and Sabrina Pricl. "Abstract 4547: Structural, thermodynamics and kinetics role of novel hot-spot mutations of BCR-ABL1 in resistance towards "Ibs" inhibitors." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-4547.

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Laurini, Erik, Suzana Aulic, Natasa Skoko, et al. "Abstract 2382: In silico/in vitro studies of novel hot spot mutations in BCR-ABL1: A multidisciplinary approach to shed a new light on TKI resistance." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-2382.

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