Current Cytogenetic Abnormalities in Acute Myeloid Leukemia

Bendari, Mounia; Khoubila, Nisrine; Cherkaoui, Siham; Hda, Nezha; Qachouh, Meryem; Lamchahab, Mouna; Quessar, Asmae

doi:10.5772/intechopen.91425

Cited by 3 publications

(5 citation statements)

References 42 publications

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“…Among this data set, inv(16)(p13.1q22) is the most common, observed in between 4-5% of AML patients that receive cytogenetic work-ups(10, 11). CytoTerra identified 4/4 inv(16) rearrangements observed by cytogenetics in the study population (Fig.…”

Section: Resultsmentioning

confidence: 99%

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Evaluation of Acute Myeloid Leukemia Genomes using Genomic Proximity Mapping

Yeung,

Eacker,

Sala-Torra

et al. 2024

Preprint

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BackgroundCytogenetic analysis encompasses a suite of standard-of-care diagnostic testing methods that is routinely applied in cases of acute myeloid leukemia (AML) to assess chromosomal changes that are clinically relevant for risk classification and treatment decisions.ObjectiveIn this study, we assess the use of Genomic Proximity Mapping (GPM) for cytogenomic analysis of AML diagnostic specimens for detection of cytogenetic risk variants included in the European Leukemia Network (ELN) risk stratification guidelines.MethodsArchival patient samples (N=48) from the Fred Hutchinson Cancer Center leukemia bank with historical clinical cytogenetic data were processed for GPM and analyzed with the CytoTerra® cloud-based analysis platform.ResultsGPM showed 100% concordance for all specific variants that have associated impacts on risk stratification as defined by ELN 2022 criteria, and a 72% concordance rate when considering all variants reported by the FH cytogenetic lab. GPM identified 39 additional variants, including variants of known clinical impact, not observed by cytogenetics.ConclusionsGPM is an effective solution for the evaluation of known AML-associated risk variants and a source for biomarker discovery.

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Section: Resultsmentioning

confidence: 99%

“…5A). The next most common class of inversions observed are related rearrangements involving the MECOM ( EVI1 ) locus(11). In this study, both cytogenetics and CytoTerra identified a single instance of an inv(3)(q21.3q26.1) (Fig.…”

Section: Resultsmentioning

confidence: 99%

Evaluation of Acute Myeloid Leukemia Genomes using Genomic Proximity Mapping

Yeung,

Eacker,

Sala-Torra

et al. 2024

Preprint

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“…Other additional chromosome abnormalities seen in patients with inv. ( 16) include +8, del(7q), and/or + 21and +22 [41,42]. Acute Promyelocytic Leukemia (APML), is a subtype of AML with the recurrent abnormality t(15;17) (q24.1;q21.2).…”

Section: Acute Myeloid Leukemia (Aml)mentioning

confidence: 99%

Chromosome Abnormalities in Hematological Malignancies and Its Clinical Significance

Subramanian¹

2022

Down Syndrome and Other Chromosome Abnormalities

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The latest version of the World Health Organization guidelines focuses mainly on the genetic and cytogenetic features of hematologic neoplasms as predictors of diagnostic, treatment decision, prognostic outcome, and for treatment monitoring in hematological malignancies. There are different techniques to identify these abnormalities. Live cells are needed for chromosome preparation. The Hematological malignancies include myeloid and lymphoid neoplasms. The myeloid neoplasms include Myelodysplastic syndromes, myeloproliferative neoplasms, and acute myeloid leukemias. The Lymphoid neoplasms include acute and chronic lymphocytic leukemias, plasma cell neoplasms, myeloma, hodgkin, and non-hodgkin lymphomas. The first chromosomal abnormality discovered in connection with cancer is the Philadelphia chromosome, which is an abnormal chromosome 22, formed due to the translocation between chromosomes 9 and 22. The presence of this abnormal chromosome confirms the diagnosis of “CML”. After that, hundreds of chromosomal abnormalities have been identified in hematological malignancies in different parts of the world. In AML, specific abnormalities were identified as having a good prognosis, intermediate prognosis, and poor prognosis. In other hematological malignancies also there some specific chromosome abnormalities are associated with prognostication. Now a day’s clinicians depend mainly on genetic abnormalities for the proper treatment management of hematological malignancies, so the study of chromosomal abnormalities is essential.

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“…FISH constitues a big step for studying somatic chromosomal mosaicism and molecular cytogenetic detection of chromosomal variations in interphase nuclei [6,7].…”

Section: Fluorescence In Situ Hybridization (Fish)mentioning

confidence: 99%

“…The first gene mutation described in 2005, JAK2-V617F, turned out to be the most important and most frequently recurring somatic mutation in MPN [6][7][8][9]. The frequency ofJAK2-V617F is around 95% in PV and between 50% and 60% in ET and PMF [41].…”

Section: Meyloproliferative Neoplasm (Mpn)mentioning

confidence: 99%

Haematological Malignancies: Overview of the Recent Progresses in Genetics

Bendari¹,

Sraidi²,

Khoubila³

2021

Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material

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Genetic defects play a major role in pathogenesis of the most of haematological malignancies, including cytogenetic abnormalities, gene mutations, and abnormal gene expression. Our knowledge about the genetics of haematological disorders has been dramatically improved during the past decade, due to revolution of sequencing technologies which have played a crucial role. In this chapter, we describe the techniques commonly employed for elucidating chromosomal aberrations, prognostic impact of recurrent chromosomal abnormalities, and recently updated risk stratification systems. We will summarise the chromosomal abnormalities recently identified on many of haematological diseases such acute myeloid leukaemia, acute lymphoid leukaemia, myelodysplasic syndrome, multiple myeloma, meyloproliferative disease and clarify their impacts on clinical phenotype and prognosis, as well as their role in the pathogenesis of these diseases. The aim of this chapter is to provide a brief overview of the recent progresses in haematological diseases genetics.

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Current Cytogenetic Abnormalities in Acute Myeloid Leukemia

Cited by 3 publications

References 42 publications

Evaluation of Acute Myeloid Leukemia Genomes using Genomic Proximity Mapping

Evaluation of Acute Myeloid Leukemia Genomes using Genomic Proximity Mapping

Chromosome Abnormalities in Hematological Malignancies and Its Clinical Significance

Haematological Malignancies: Overview of the Recent Progresses in Genetics

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