Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far?
Chronic Myeloid Leukemia (CML) is a rare malignant proliferative disease of the hematopoietic system, whose molecular hallmark is the Philadelphia chromosome (Ph). The Ph chromosome originates an aberrant fusion gene with abnormal kinase activity, leading to the buildup of reactive oxygen species an...
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MDPI AG
2021-11-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/22/12516 |
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| author | Bilal Abdulmawjood Beatriz Costa Catarina Roma-Rodrigues Pedro V. Baptista Alexandra R. Fernandes |
| author_facet | Bilal Abdulmawjood Beatriz Costa Catarina Roma-Rodrigues Pedro V. Baptista Alexandra R. Fernandes |
| author_sort | Bilal Abdulmawjood |
| collection | DOAJ |
| description | Chronic Myeloid Leukemia (CML) is a rare malignant proliferative disease of the hematopoietic system, whose molecular hallmark is the Philadelphia chromosome (Ph). The Ph chromosome originates an aberrant fusion gene with abnormal kinase activity, leading to the buildup of reactive oxygen species and genetic instability of relevance in disease progression. Several genetic abnormalities have been correlated with CML in the blast phase, including chromosomal aberrations and common altered genes. Some of these genes are involved in the regulation of cell apoptosis and proliferation, such as the epidermal growth factor receptor (<i>EGFR</i>)<i>,</i> tumor protein p53 (<i>TP53</i>), or Schmidt-Ruppin A-2 proto-oncogene (<i>SRC</i>); cell adhesion, e.g., catenin beta 1 (<i>CTNNB1</i>); or genes associated to TGF-β, such as SKI like proto-oncogene (<i>SKIL</i>), transforming growth factor beta 1 (<i>TGFB1</i>) or transforming growth factor beta 2 (<i>TGFB2</i>); and TNF-α pathways, such as Tumor necrosis factor (<i>TNFA</i>) or Nuclear factor kappa B subunit 1 (<i>NFKB1</i>). The involvement of miRNAs in CML is also gaining momentum, where dysregulation of some critical miRNAs, such as miRNA-451 and miRNA-21, which have been associated to the molecular modulation of pathogenesis, progression of disease states, and response to therapeutics. In this review, the most relevant genomic alterations found in CML will be addressed. |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T05:25:39Z |
| publishDate | 2021-11-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-6aeb2d806be14f6892b1b842b6752cf02023-11-22T23:43:36ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-11-0122221251610.3390/ijms222212516Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far?Bilal Abdulmawjood0Beatriz Costa1Catarina Roma-Rodrigues2Pedro V. Baptista3Alexandra R. Fernandes4i4HB—Institute for Health and Bioeconomy, NOVA School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugali4HB—Institute for Health and Bioeconomy, NOVA School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugali4HB—Institute for Health and Bioeconomy, NOVA School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugali4HB—Institute for Health and Bioeconomy, NOVA School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugali4HB—Institute for Health and Bioeconomy, NOVA School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, PortugalChronic Myeloid Leukemia (CML) is a rare malignant proliferative disease of the hematopoietic system, whose molecular hallmark is the Philadelphia chromosome (Ph). The Ph chromosome originates an aberrant fusion gene with abnormal kinase activity, leading to the buildup of reactive oxygen species and genetic instability of relevance in disease progression. Several genetic abnormalities have been correlated with CML in the blast phase, including chromosomal aberrations and common altered genes. Some of these genes are involved in the regulation of cell apoptosis and proliferation, such as the epidermal growth factor receptor (<i>EGFR</i>)<i>,</i> tumor protein p53 (<i>TP53</i>), or Schmidt-Ruppin A-2 proto-oncogene (<i>SRC</i>); cell adhesion, e.g., catenin beta 1 (<i>CTNNB1</i>); or genes associated to TGF-β, such as SKI like proto-oncogene (<i>SKIL</i>), transforming growth factor beta 1 (<i>TGFB1</i>) or transforming growth factor beta 2 (<i>TGFB2</i>); and TNF-α pathways, such as Tumor necrosis factor (<i>TNFA</i>) or Nuclear factor kappa B subunit 1 (<i>NFKB1</i>). The involvement of miRNAs in CML is also gaining momentum, where dysregulation of some critical miRNAs, such as miRNA-451 and miRNA-21, which have been associated to the molecular modulation of pathogenesis, progression of disease states, and response to therapeutics. In this review, the most relevant genomic alterations found in CML will be addressed.https://www.mdpi.com/1422-0067/22/22/12516chronic myeloid leukemiaPhiladelphia chromosomegenetic biomarkersmiRNAsgenomic instability |
| spellingShingle | Bilal Abdulmawjood Beatriz Costa Catarina Roma-Rodrigues Pedro V. Baptista Alexandra R. Fernandes Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far? International Journal of Molecular Sciences chronic myeloid leukemia Philadelphia chromosome genetic biomarkers miRNAs genomic instability |
| title | Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far? |
| title_full | Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far? |
| title_fullStr | Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far? |
| title_full_unstemmed | Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far? |
| title_short | Genetic Biomarkers in Chronic Myeloid Leukemia: What Have We Learned So Far? |
| title_sort | genetic biomarkers in chronic myeloid leukemia what have we learned so far |
| topic | chronic myeloid leukemia Philadelphia chromosome genetic biomarkers miRNAs genomic instability |
| url | https://www.mdpi.com/1422-0067/22/22/12516 |
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