Frequencies of BCR::ABL1 Transcripts in Patients with Chronic Myeloid Leukemia: A Meta-Analysis

Romero-Morelos, Pablo; González-Yebra, Ana; Muñoz-López, Daniela; Lara-Lona, Elia; González-Yebra, Beatriz

doi:10.3390/genes15020232

Cited by 3 publications

(1 citation statement)

References 52 publications

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“…Chronic myeloid leukemia (CML) is a chronic myeloproliferative malignancy of stem cells that is manifested in blood and bone marrow [ 1 ]. It is caused by a reciprocal translocation between chromosome 9 and 22 [t(9; 22)], leading to the formation of Philadelphia (Ph) chromosome [ 2 ]. This translocation results in BCR-ABL fusion oncogene responsible for the onset of malignant proliferation in the myeloid lineage of hematopoietic stem cells [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case–Control Study

Alanazi,

Siyal,

Basit

et al. 2024

Hematology Reports

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Background: Chronic myeloid leukemia (CML) results from chromosomal translocation t(9;22) leading to the formation of the BCR-ABL fusion oncogene. CML has three stages: the chronic phase (CP), the accelerated phase (AP), and the blast crisis (BC). Tyrosine kinase inhibitors (TKIs) have revolutionized the treatment of CML. TKIs work well in CP-CML, and these patients have a survival rate similar to the normal population, but TKIs are less effective in advanced-phase CML. Even with current advances in treatment, BC-CML patients have an average overall survival of less than a year. Early recognition of CML patients at risk of disease progression can help in timely interventions with appropriate TKIs or other therapeutic modalities. Although some markers of disease progression like BCR-ABL kinase domain, ASXL1, and GATA2 mutations are available, no universal and exclusively specific molecular biomarkers exist to early diagnose CML patients at risk of CML progression for timely therapeutic interventions to delay or minimize blast crisis transformation in CML. A recent study found that all BC-CML patients harbored the FANCD2 (c.2022-5C>T) mutation. Therefore, the current study was designed to detect this FANCD2 mutant in AP-CML (early progression phase) and to clinically validate its potential as a novel molecular biomarker of early CML progression from CP to AP. Methods: Our study comprised 123 CP-CML (control group) and 60 AP-CML patients (experimental group) from 2 oncology centers, from January 2020 to July 2023. Mean hemoglobin level, WBC count, platelet count, treatment type, hepatomegaly, splenomegaly, and survival status of AP-CML patients were significantly different from those of CP-CML patients. However, as these clinical parameters cannot help in the early detection of patients at risk of CML progression, there was a need for a clinically validated biomarker of AP-CML. DNA was extracted from the patients’ blood samples, and the FANCD2 gene was sequenced using an Illumina NextSeq500 next-generation sequencer (NGS). Results: The NGS analysis revealed a unique splice-site mutation in the FANCD2 gene (c.2022-5C>T). This mutation was detected in the majority (98.3%) of AP-CML patients but in none of the CP-CML patients or healthy control sequences from genomic databases. The mutation was confirmed by Sanger sequencing. FANCD2 is a member of the Fanconi anemia pathway genes involved in DNA repair and genomic stability, and aberrations of this gene are associated with many cancers. Conclusions: In conclusion, our study shows that the somatic FANCD2 (c.2022-5C>T) mutation is a new molecular biomarker for early CML progression. We recommend further clinical validation of this biomarker in prospective clinical trials.

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Section: Introductionmentioning

confidence: 99%

Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case–Control Study

Alanazi,

Siyal,

Basit

et al. 2024

Hematology Reports

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Leukemia in pregnancy: Diagnosis and therapeutic approach (Review)

Giannakaki,

Oikonomou

et al. 2024

Mol Clin Oncol

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The present study aimed to evaluate the epidemiological, diagnostic and therapeutic data of hematological malignancies in pregnancy. Leukemia in pregnancy is rare, and literature data are not extensive. Risk factors, epidemiology and pathogenesis of these diseases are not fully developed. Furthermore, there is a detailed report on the complications in pregnancy and the overall (per trimester) management of these diseases, specifically their treatment strategy. The possibility of achieving a future pregnancy in women with leukemia is described in the present study. The limited clinical research data currently available is mainly due to the inability to conduct randomized clinical trials for ethical reasons. Further research is needed, firstly due to the importance of these diseases for the pregnant woman and the fetus, and secondly, due to the continuous development of novel anticancer drugs that aim to improve the prognosis of these diseases.

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BCR-ABL positive T cell Acute Lymphoblastic Leukemia (T-ALL): Exploring A Rare Case with A Comprehensive Review

Kheyrandish,

Shadani,

Eghbali

et al. 2024

Iranian Journal of Blood and Cancer

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Frequencies of BCR::ABL1 Transcripts in Patients with Chronic Myeloid Leukemia: A Meta-Analysis

Cited by 3 publications

References 52 publications

Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case–Control Study

Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case–Control Study

Leukemia in pregnancy: Diagnosis and therapeutic approach (Review)

BCR-ABL positive T cell Acute Lymphoblastic Leukemia (T-ALL): Exploring A Rare Case with A Comprehensive Review

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