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Gene Mutation in Acute Myeloid Leukemia
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Gene Mutation in Acute Myeloid Leukemia

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 3497

Special Issue Editor

Dr. Crescenzio Francesco Minervini

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Guest Editor
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, P.zza G. Cesare, 11, 70124 Bari, Italy
Interests: next-generation sequencing (NGS); hematological malignancies; cancer genetics; sequencing technology; genomics

Special Issue Information

Dear Colleagues,

Acute myeloid leukemia (AML) is a heterogeneous clonal disorder characterized by immature myeloid cell proliferation and bone marrow failure. Cytogenetics and mutation testing are the main prognostic tools for post-induction treatment. Today, AML clinical settings cannot do without molecular testing to confirm or rule out predictive biomarkers for prognostic stratification, in order to initiate or withhold targeted therapy. Indeed, several targeted therapies have been approved or are being tested for specific mutations (FLT3, IDH, BCL-2, and TP53), obtaining improvements in clinical outcomes and less toxicity as compared with intensive treatment, potentially allowing for combination therapy. Next-generation sequencing (NGS) offers the advantage of the simultaneous investigation of numerous genes and is improving the rate of discovery of new molecular targets. This Special Issue of Genes, entitled “Gene Mutation in Acute Myeloid Leukemia”, aims to provide a space for updating readers on the discovery of new mutations, both somatic and heritable, involved in the pathogenesis of and predisposition for AML, and for discussing recent clinical advances, including novel molecularly targeted therapies. In this regard, original research articles and reviews are welcome.

Dr. Crescenzio Francesco Minervini
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • somatic mutations
  • fusion genes
  • molecular targets
  • familial heritable leukemia
  • genetic screening

Published Papers (1 paper)

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Research

14 pages, 624 KiB  
Article
Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies
by Sorina Mihaela Papuc, Alina Erbescu, Diana Cisleanu, Diana Ozunu, Cristina Enache, Ion Dumitru, Elena Lupoaia Andrus, Mihaela Gaman, Viola Maria Popov, Maria Dobre, Oana Stanca, Silvana Angelescu, Nicoleta Berbec, Andrei Colita, Ana-Maria Vladareanu, Horia Bumbea and Aurora Arghir
Genes 2021, 12(6), 846; https://doi.org/10.3390/genes12060846 - 30 May 2021
Cited by 4 | Viewed by 2936
Abstract
Acute myeloid leukemia (AML) is a heterogeneous disorder characterized by a wide range of genetic defects. Cytogenetics, molecular and genomic technologies have proved to be helpful for deciphering the mutational landscape of AML and impacted clinical practice. Forty-eight new AML patients were investigated [...] Read more.
Acute myeloid leukemia (AML) is a heterogeneous disorder characterized by a wide range of genetic defects. Cytogenetics, molecular and genomic technologies have proved to be helpful for deciphering the mutational landscape of AML and impacted clinical practice. Forty-eight new AML patients were investigated with an integrated approach, including classical and molecular cytogenetics, array-based comparative genomic hybridization and targeted next generation sequencing (NGS). Various genetic defects were identified in all the patients using our strategy. Targeted NGS revealed known pathogenic mutations as well as rare or unreported variants with deleterious predictions. The mutational screening of the normal karyotype (NK) group identified clinically relevant variants in 86.2% of the patients; in the abnormal cytogenetics group, the mutation detection rate was 87.5%. Overall, the highest mutation prevalence was observed for the NPM1 gene, followed by DNMT3A, FLT3 and NRAS. An unexpected co-occurrence of KMT2A translocation and DNMT3A-R882 was identified; alterations of these genes, which are involved in epigenetic regulation, are considered to be mutually exclusive. A microarray analysis detected CNVs in 25% of the NK AML patients. In patients with complex karyotypes, the microarray analysis made a significant contribution toward the accurate characterization of chromosomal defects. In summary, our results show that the integration of multiple investigative strategies increases the detection yield of genetic defects with potential clinical relevance. Full article
(This article belongs to the Special Issue Gene Mutation in Acute Myeloid Leukemia)
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