Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

Chicano, María; Carbonell, Diego; Suárez‐González, Julia; Lois, Sergio; Ballesteros-Culebras, Mercedes; Andrés-Zayas, Cristina; Muñiz, Paula; Rodríguez‐Macías, Gabriela; Bastos‐Oreiro, Mariana; Font, Patricia; Ballesteros, Mónica; Kwon, Mi; Anguita, Javier; Díez-Martin, José L.; Buño, Ismael; Martínez-Laperche, Carolina

doi:10.3390/cancers13123001

Cited by 2 publications

(2 citation statements)

References 45 publications

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“…Furthermore, the detection and characterization of CNVs could help in monitoring the prognosis of patients with hematologic malignancies such as ALL [ 101 ]. Although WGS improved the efficiency of detecting chromosomal alterations in various hematologic disorders [ 102 ], detecting CNVs can be challenging because they can be difficult to distinguish from noise in sequencing data.…”

Section: Ai-assisted Genomic Testing For Hematologic Disordersmentioning

confidence: 99%

Artificial Intelligence-Assisted Diagnostic Cytology and Genomic Testing for Hematologic Disorders

Gedefaw

Liu

et al. 2023

Cells

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Artificial intelligence (AI) is a rapidly evolving field of computer science that involves the development of computational programs that can mimic human intelligence. In particular, machine learning and deep learning models have enabled the identification and grouping of patterns within data, leading to the development of AI systems that have been applied in various areas of hematology, including digital pathology, alpha thalassemia patient screening, cytogenetics, immunophenotyping, and sequencing. These AI-assisted methods have shown promise in improving diagnostic accuracy and efficiency, identifying novel biomarkers, and predicting treatment outcomes. However, limitations such as limited databases, lack of validation and standardization, systematic errors, and bias prevent AI from completely replacing manual diagnosis in hematology. In addition, the processing of large amounts of patient data and personal information by AI poses potential data privacy issues, necessitating the development of regulations to evaluate AI systems and address ethical concerns in clinical AI systems. Nonetheless, with continued research and development, AI has the potential to revolutionize the field of hematology and improve patient outcomes. To fully realize this potential, however, the challenges facing AI in hematology must be addressed and overcome.

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Section: Ai-assisted Genomic Testing For Hematologic Disordersmentioning

confidence: 99%

Artificial Intelligence-Assisted Diagnostic Cytology and Genomic Testing for Hematologic Disorders

Gedefaw

Liu

et al. 2023

Cells

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“…NGS approaches including CNV may be interesting as a complementary technique to karyotype and FISH. Therefore, it would be advisable to include probes and bioinformatic algorithms to allow their analysis in AML panels [18]. This type of analysis may extend fast due to the growing body of evidence pointing to CNVs as clinically relevant in AML.…”

Section: Gene Panelsmentioning

confidence: 99%

The role of next-generation sequencing in acute myeloid leukemia

Llop

Sargas

Barragán

2022

Current Opinion in Oncology

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Purpose of reviewThe development of high-throughput techniques like next-generation sequencing (NGS) has unraveled the genetic profile of cancer. In this review, we discuss the role of NGS on the diagnostic, risk stratification, and follow-up of patients with acute myeloid leukemia (AML).Recent findingsNGS has become an essential tool in clinical practice for AML management. Therefore, efforts are being made to improve its applications, automation, and turnaround time. Other high-throughput techniques, such as whole genome sequencing or RNA-sequencing, can be also used to this end. However, not all institutions may be able to implement these approaches. NGS is being investigated for measurable residual disease (MRD) assessment, especially with the development of error-correction NGS. New data analysis approaches like machine learning are being investigated in order to integrate genomic and clinical data and develop comprehensive classifications and risk scores.SummaryNGS has proven to be a useful approach for the analysis of genomic alterations in patients with AML, which aids patient management. Current research is being directed at reducing turnaround time and simplifying processes so that these techniques can be universally integrated into clinical practice.

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Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

Cited by 2 publications

References 45 publications

Artificial Intelligence-Assisted Diagnostic Cytology and Genomic Testing for Hematologic Disorders

Artificial Intelligence-Assisted Diagnostic Cytology and Genomic Testing for Hematologic Disorders

The role of next-generation sequencing in acute myeloid leukemia

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