Chronic myeloid leukemia with complex karyotypes: Prognosis and therapeutic approaches

Asnafi, Ali Amin; Zayeri, Zeinab Deris; Shahrabi, Saeid; Zibara, Kazem; Vosughi, Tina

doi:10.1002/jcp.27505

Cited by 31 publications

(25 citation statements)

References 77 publications

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“…Although the starting point of CML is well known, other genetic and cytogenetic changes play important roles in prognosis and treatment of this malignancy [79]. In this context, the mechanisms for insensitivity of CML stem remains unclear.…”

Section: Discussionmentioning

confidence: 99%

“…CML, defined as a clonal myeloproliferative disorder, was the first human malignancy associated to a consistent chromosomal abnormality and is characterized by the presence of the fusion oncogene BCR-ABL. Clinical symptoms associated to this disease include hypercellular bone marrow, anemia, platelet dysfunction, and an increase in the number of leukocytes, especially neutrophils and immature myeloid cells [5, 6]. Chronic lymphocytic leukemia (CLL): it is more common in people over 60 years and is very rare in people under 40 years.…”

Section: Introductionmentioning

confidence: 99%

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Leukemia multiclass assessment and classification from Microarray and RNA-seq technologies integration at gene expression level

et al. 2019

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In more recent years, a significant increase in the number of available biological experiments has taken place due to the widespread use of massive sequencing data. Furthermore, the continuous developments in the machine learning and in the high performance computing areas, are allowing a faster and more efficient analysis and processing of this type of data. However, biological information about a certain disease is normally widespread due to the use of different sequencing technologies and different manufacturers, in different experiments along the years around the world. Thus, nowadays it is of paramount importance to attain a correct integration of biologically-related data in order to achieve genuine benefits from them. For this purpose, this work presents an integration of multiple Microarray and RNA-seq platforms, which has led to the design of a multiclass study by collecting samples from the main four types of leukemia, quantified at gene expression. Subsequently, in order to find a set of differentially expressed genes with the highest discernment capability among different types of leukemia, an innovative parameter referred to as coverage is presented here. This parameter allows assessing the number of different pathologies that a certain gen is able to discern. It has been evaluated together with other widely known parameters under assessment of an ANOVA statistical test which corroborated its filtering power when the identified genes are subjected to a machine learning process at multiclass level. The optimal tuning of gene extraction evaluated parameters by means of this statistical test led to the selection of 42 highly relevant expressed genes. By the use of minimum-Redundancy Maximum-Relevance (mRMR) feature selection algorithm, these genes were reordered and assessed under the operation of four different classification techniques. Outstanding results were achieved by taking exclusively the first ten genes of the ranking into consideration. Finally, specific literature was consulted on this last subset of genes, revealing the occurrence of practically all of them with biological processes related to leukemia. At sight of these results, this study underlines the relevance of considering a new parameter which facilitates the identification of highly valid expressed genes for simultaneously discerning multiple types of leukemia.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Leukemia multiclass assessment and classification from Microarray and RNA-seq technologies integration at gene expression level

et al. 2019

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“…On the other hand, −7, −17, +17, +21, -Y, and t(3;21)(q26;q22) were generated via the "minor" pathway, while about 15% of CML cases had at least one of these six chromosomal abnormalities [11]. Asnafi et al reviewed the additional chromosomal abnormalities discovered in CML-BC cases between 1975 and 2017 [9] and suggested that some chromosomal abnormalities are associated with poor prognosis and poor therapeutic responses to TKIs [9]. However, the impact of these additional chromosomal abnormalities on the development of a blast crisis remains unknown and detailed investigation will be required in the future.…”

Section: Discussion/conclusionmentioning

confidence: 99%

“…Although allogeneic hematopoietic stem cell transplantation is the only curative therapeutic option for CML-BC, the clinical outcome remains poor due to high rates of relapse and treatment-related mortality [8]. The pathogenesis of CML-BC remains unclear; however, additional chromosomal abnormalities may contribute to the progression of CML-BC [9].…”

Section: Introductionmentioning

confidence: 99%

A Rare Chromosome Abnormality with der(16)t(1;16)(q12;q11.2) in Blast Crisis of Chronic Myeloid Leukemia

Yanagiya¹,

Ishikawa²,

Toubai³

et al. 2020

Case Rep Oncol

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Although tyrosine kinase inhibitors markedly improve the clinical outcome of chronic myeloid leukemia (CML), blast crisis in CML (CML-BC) still has a poor prognosis. Many chromosomal abnormalities have been reported in CML-BC and may contribute to therapeutic resistance, disease progression, and prognosis. Herein, we report a rare chromosome abnormality with der(16)t(1;16)(q12;q11.2) in CML-BC. It has been demonstrated that this chromosomal abnormality is associated with disease progression and poor prognosis in other malignancies, such as Ewing sarcoma. A 70-year-old man with CML who had been treated with imatinib and dasatinib was admitted to our hospital after complaining for several weeks of fatigue and dyspnea and diagnosed with CML-BC. His tumor cells presented additional chromosomal abnormality with der(16)t(1;16)(q12;q11.2), which has never been reported in CML cases. We successfully treated him using cytotoxic agents combined with ponatinib, and this chromosome abnormality was detected via G-banding. Our patient has lived for over 8 months without any progression with ponatinib treatment alone. Although the biological function of this chromosomal abnormality remains unclear, the satellite DNA of 1q12, which induces genomic instability in other malignancies, and the loss of 16q may contribute to the disease progression of CML in this case. In conclusion, this paper is the first to report on the case of CML-BC with der(16)t(1;16)(q12;q11.2).

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“…Roughly, 10%‐12% of CML patients show additional chromosomal aberrations (ACAs) in chronic phase and blast crisis. ACAs, especially when complex, present to be a biomarker of CML evolution，and ACAs can be a important clue in treatment strategies . Rarely, patients with CML can present directly in a blast crisis.…”

Section: Introductionmentioning

confidence: 99%

Chronic myeloid leukemia blast crisis presented with AML of t(9;22) and t(3;14) mimicking acute lymphocytic leukemia

Liu

Wang

et al. 2019

Clinical Laboratory Analysis

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Background Clinically, 90%‐95% of cases of CML have the characteristic t(9;22) (q34.1;q11.2) translocation that leads to the Philadelphia (Ph) chromosome. Rarely, patients with CML can present directly in a blast crisis (BC). 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. Case presentation A 20‐year‐old man presented with Ph chromosome‐positive AML mimicking acute lymphocytic leukemia (ALL). Bone marrow (BM) aspiration revealed AML with ALL‐like morphologic features. The results of the immunophenotypic analysis suggested AML. Cytogenetic analysis of the BM cells revealed a 46,XY,t(3;14)(q21;q32),t(9;22)(q34;q11.2)[20] karyotype. Thus, we called the condition AML mimicking ALL. The patient was diagnosed with myeloid BC based on the combination of clinical, cytologic, and cytogenetic studies. Conclusion To date, no case reports of a patient diagnosed with CML BC presented with Ph chromosome‐positive AML mimicking ALL have been reported. We present the case given its rarity, easy misdiagnosis, and poor prognosis. It is important to combine clinical, cytologic, and cytogenetic analyses in distinguishing CML BC from de novo AML with the t(9;22)，and further cases should be accumulated to explore how to improve the prognosis of the patients.

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Chronic myeloid leukemia with complex karyotypes: Prognosis and therapeutic approaches

Abstract: Objective and Background: Chronic myeloid leukemia (CML) is a neoplastic disease whose genetic and cytogenetic changes play important roles in prognosis and treatment strategies. Philadelphia (Ph) translocation t(9;22)(q34;q11) is a diagnostic and prognostic biomarker in CML.

Cited by 31 publications

References 77 publications

Leukemia multiclass assessment and classification from Microarray and RNA-seq technologies integration at gene expression level

Leukemia multiclass assessment and classification from Microarray and RNA-seq technologies integration at gene expression level

A Rare Chromosome Abnormality with der(16)t(1;16)(q12;q11.2) in Blast Crisis of Chronic Myeloid Leukemia

Chronic myeloid leukemia blast crisis presented with AML of t(9;22) and t(3;14) mimicking acute lymphocytic leukemia

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