Molecular testing for acute myeloid leukemia

Qin, Dahui

doi:10.20892/j.issn.2095-3941.2020.0734

Cited by 10 publications

(10 citation statements)

References 62 publications

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“…AML classification has now evolved and has 2 categories: first is chromosomal rearrangements resulting in translocations and fusion genes and the second category of recurrent genetic abnormalities is characterized by gene mutations such as point mutations, deletions, and insertions, and copy number variations. 46 AML diagnosis is usually done by various combinations of methods including morphology-based screening cells, chromosome-based analysis, molecular methods like fragment analysis, polymerase chain reaction (PCR)-based tests, Sanger-based assays, and NGS methods. Duncavage et al 47 have summarized major techniques in use for the detection of various hematologic malignancies.…”

Section: Molecular Testing Methods and Challenges Involvedmentioning

confidence: 99%

“…Earlier, AML was classified as AML with recurrent genetic abnormalities, therapy-related myeloid neoplasm, AML with myelodysplasia-related changes, AML not otherwise specified, and myeloid sarcoma. AML classification has now evolved and has 2 categories: first is chromosomal rearrangements resulting in translocations and fusion genes and the second category of recurrent genetic abnormalities is characterized by gene mutations such as point mutations, deletions, and insertions, and copy number variations 46 …”

Section: Molecular Testing Methods and Challenges Involvedmentioning

confidence: 99%

See 1 more Smart Citation

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Chaudhary,

Ahmad

et al. 2024

Journal of Pediatric Hematology/Oncology

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Acute myeloid leukemia (AML) is a genetically heterogeneous clonal disorder characterized by the accumulation of acquired somatic genetic alterations in hematopoietic progenitor cells, which alter the normal mechanisms of self-renewal, proliferation, and differentiation. Due to significant technological advancements in sequencing technologies in the last 2 decades, classification and prognostic scoring of AML has been refined, and multiple guidelines are now available for the same. The authors have tried to summarize, latest guidelines for AML diagnosis, important markers associated, epigenetics markers, various AML fusions and their importance, etc. Review of literature suggests lack of study or comprehensive information about current NGS panels for AML diagnosis, genes and fusions covered, their technical know-how, etc. To solve this issue, the authors have tried to present detailed review about currently in use next-generation sequencing myeloid panels and their offerings.

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Section: Molecular Testing Methods and Challenges Involvedmentioning

confidence: 99%

Section: Molecular Testing Methods and Challenges Involvedmentioning

confidence: 99%

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Chaudhary,

Ahmad

et al. 2024

Journal of Pediatric Hematology/Oncology

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“…The method that has been in place for the past few decades is Sanger sequencing, this has been characterized by its simplicity but is capital‐intensive and the process takes longer time than necessary [32]. Novel sequencing technologies that immediately evolved after Sanger sequencing are collectively termed as NGS and are often described as throughput, accurate, cost‐effective, and reliable techniques that can examine the whole genome within a short period of time [32, 33]. Generally, NGS platforms are grouped into second and third generations.…”

Section: Sequencing Platformsmentioning

confidence: 99%

Transcriptome profiling research in urothelial cell carcinoma

et al. 2023

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Urothelial cell carcinoma (UCC) is the ninth most common cancer that accounts for 4.7% of all new cancer cases globally. UCC development and progression are due to complex and stochastic genetic programs. To study the cascades of molecular events underlying the poor prognosis that may lead to limited treatment options for advanced disease and resistance to conventional therapies in UCC, transcriptomics technology (RNA‐Seq), a method of analyzing the RNA content of a sample using modern high‐throughput sequencing platforms has been employed. Here, we review the principles of RNA‐Seq technology and summarize recent studies on human bladder cancer that employed this technique to unravel the pathogenesis of the disease, identify biomarkers, discover pathways and classify the disease state. We list the commonly used computational platforms and software that are publicly available for RNA‐Seq analysis. Moreover, we discussed the future perspectives for RNA‐Seq studies on bladder cancer and recommended the application of a new technology called single‐cell sequencing to further understand the disease.

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“…Molecular PCR can be used to determine the amount of minimal residual disease (MRD), the small amount of cancer cells left in the body after treatment. This testing can be done on a bone marrow or a blood sample [23].…”

Section: Molecular Testsmentioning

confidence: 99%

Laboratory Diagnosis of Acute Leukemia in Kenya: The Gaps and Opportunities

Lotodo,

Patel,

Ndede

2023

JBM

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Acute leukemia (AL) is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage of development. The diagnosis of leukemia and lymphomas, beyond morphology, is limited in low-resource countries including Kenya. Morphological diagnosis includes Cytological and Histological assessment of blood, bone marrow aspirates and tissues on suspected Acute leukemia patients. The World Health Organization (WHO, 2016) international guidelines on Acute leukemia diagnosis recommend that cytogenetic analysis, appropriate molecular genetics, Fluorescent in situ Hybridization (FISH) testing, and flow cytometric immuno-phenotyping should be done in addition to a morphologic assessment of Acute Leukemia. In facilities where resources are relatively available, immunophenotypic and genetic features have resulted not only in providing a more accurate leukemia diagnosis but also in identifying antigens or genes that can then be targeted for therapy. This article will look at the gaps in the diagnosis of Acute leukemia in low-resource settings like Kenya and opportunities available to improve diagnosis.

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Molecular testing for acute myeloid leukemia

Cited by 10 publications

References 62 publications

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Transcriptome profiling research in urothelial cell carcinoma

Laboratory Diagnosis of Acute Leukemia in Kenya: The Gaps and Opportunities

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