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Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia

Acute myeloid leukaemia (AML) is characterised by heterogeneous genomic signatures that vary among different patient groups. Hence, the current study aims to conduct a whole transcriptome analysis of a female patient with AML and a family history of the disease at the time of diagnosis. Genetic prof...

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Autores principales: El-Masry, Omar S., Alshwareb, Abeer A., Alnasser, Fatimah H., al mishaal, Sukainah G., Alsamman, Khaldoon M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taibah University 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396045/
https://www.ncbi.nlm.nih.gov/pubmed/36050959
http://dx.doi.org/10.1016/j.jtumed.2021.12.013
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author El-Masry, Omar S.
Alshwareb, Abeer A.
Alnasser, Fatimah H.
al mishaal, Sukainah G.
Alsamman, Khaldoon M.
author_facet El-Masry, Omar S.
Alshwareb, Abeer A.
Alnasser, Fatimah H.
al mishaal, Sukainah G.
Alsamman, Khaldoon M.
author_sort El-Masry, Omar S.
collection PubMed
description Acute myeloid leukaemia (AML) is characterised by heterogeneous genomic signatures that vary among different patient groups. Hence, the current study aims to conduct a whole transcriptome analysis of a female patient with AML and a family history of the disease at the time of diagnosis. Genetic profiling has a useful impact on clinical management and treatment success of the disease as the complex genetic landscape of AML and differential responses to treatment might indicate inadequate therapeutic targeting. A 37 year old female patient with AML was admitted to the hospital complaining of general fatigue arthralgia and chest pain. AML diagnosis was confirmed by complete blood count and blood smears before being confirmed by cytogenetic analysis. Herein, we conducted whole-transcriptome sequencing analysis to assess differential gene expression profiles in patients and healthy control subjects. In addition, single nucleotide polymorphism/insertion-deletion analyses (SNP/INDEL) were performed to investigate gene variants in the present case. The results revealed a remarkable differential gene expression profile in AML compared to the corresponding control at the time of diagnosis, indicating that HTRA3, KRT8, KRT17, and RHEX are potential novel therapeutic targets. Additionally, a number of novel gene variants were also reported in the current study, as concluded from the SNP/INDEL analysis, which might be associated with disease risk assessment and probably affect prognosis. These genes and their new variants might be worth reporting to the scientific community for further exploration of AML.
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spelling pubmed-93960452022-08-31 Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia El-Masry, Omar S. Alshwareb, Abeer A. Alnasser, Fatimah H. al mishaal, Sukainah G. Alsamman, Khaldoon M. J Taibah Univ Med Sci Case Report Acute myeloid leukaemia (AML) is characterised by heterogeneous genomic signatures that vary among different patient groups. Hence, the current study aims to conduct a whole transcriptome analysis of a female patient with AML and a family history of the disease at the time of diagnosis. Genetic profiling has a useful impact on clinical management and treatment success of the disease as the complex genetic landscape of AML and differential responses to treatment might indicate inadequate therapeutic targeting. A 37 year old female patient with AML was admitted to the hospital complaining of general fatigue arthralgia and chest pain. AML diagnosis was confirmed by complete blood count and blood smears before being confirmed by cytogenetic analysis. Herein, we conducted whole-transcriptome sequencing analysis to assess differential gene expression profiles in patients and healthy control subjects. In addition, single nucleotide polymorphism/insertion-deletion analyses (SNP/INDEL) were performed to investigate gene variants in the present case. The results revealed a remarkable differential gene expression profile in AML compared to the corresponding control at the time of diagnosis, indicating that HTRA3, KRT8, KRT17, and RHEX are potential novel therapeutic targets. Additionally, a number of novel gene variants were also reported in the current study, as concluded from the SNP/INDEL analysis, which might be associated with disease risk assessment and probably affect prognosis. These genes and their new variants might be worth reporting to the scientific community for further exploration of AML. Taibah University 2022-03-10 /pmc/articles/PMC9396045/ /pubmed/36050959 http://dx.doi.org/10.1016/j.jtumed.2021.12.013 Text en © 2022 [The Author/The Authors] https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
El-Masry, Omar S.
Alshwareb, Abeer A.
Alnasser, Fatimah H.
al mishaal, Sukainah G.
Alsamman, Khaldoon M.
Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia
title Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia
title_full Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia
title_fullStr Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia
title_full_unstemmed Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia
title_short Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia
title_sort whole-transcriptome bioinformatics revealed htra3, krt8, krt17, and rhex as novel targets in acute myeloid leukaemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396045/
https://www.ncbi.nlm.nih.gov/pubmed/36050959
http://dx.doi.org/10.1016/j.jtumed.2021.12.013
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