Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients
Acute myeloid leukemia (AML) is an infrequent disease, and it is associated with high morbidity and mortality. It harbors a unique configuration of cytogenetic abnormalities and molecular mutations that can be detected using microscopic and molecular methods respectively. These genetic tests are cor...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.843705/full |
| _version_ | 1811238755604889600 |
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| author | Mercy Gatua Mercy Gatua Mohsen Navari Mohsen Navari Mohsen Navari Matilda Ong’ondi Noel Onyango Serah Kaggia Emily Rogena Giuseppe Visani Nicholas A. Abinya Pier Paolo Piccaluga Pier Paolo Piccaluga Pier Paolo Piccaluga Pier Paolo Piccaluga |
| author_facet | Mercy Gatua Mercy Gatua Mohsen Navari Mohsen Navari Mohsen Navari Matilda Ong’ondi Noel Onyango Serah Kaggia Emily Rogena Giuseppe Visani Nicholas A. Abinya Pier Paolo Piccaluga Pier Paolo Piccaluga Pier Paolo Piccaluga Pier Paolo Piccaluga |
| author_sort | Mercy Gatua |
| collection | DOAJ |
| description | Acute myeloid leukemia (AML) is an infrequent disease, and it is associated with high morbidity and mortality. It harbors a unique configuration of cytogenetic abnormalities and molecular mutations that can be detected using microscopic and molecular methods respectively. These genetic tests are core elements of diagnosis and prognostication in high-income countries. They are routinely incorporated in clinical decision making, allowing for the individualization of therapy. However, these tests are largely inaccessible to most patients in Kenya and therefore no data has been reported on this group of patients. The main purpose of this study is to describe the cytogenetic and molecular abnormalities of acute myeloid leukemia patients seen at the hemato-oncology unit of Kenyatta National Hospital. A cross-sectional descriptive study was carried out over a 3-month period on ten patients with a diagnosis of AML. Social demographics and clinical data were collected through a study proforma. A peripheral blood sample was collected for conventional metaphase G-banding technique and next generation sequencing. Particularly, targeted DNA sequencing (Illumina myeloid panel) and whole exome sequencing (WES) were performed. Cytogenetic analysis failed in 10/10 cases. Targeted sequencing was successfully obtained in 8 cases, whereas WES in 7. Cytogenetic studies yielded no results. There were 20 mutations detected across 10 commonly mutated genes. All patients had at least one clinically relevant mutation. Based on ELN criteria, NGS identified three patients with high-risk mutations, affecting TP53 (n = 2) and RUNX1 (n = 1). One patient was classified as favorable (PML-RARA) while 4 were standard risk. However, WT1 mutations associated with unfavorable prognosis were recorded in additional 2 cases. WES showed concordant results with targeted sequencing while unveiling more mutations that warrant further attention. In conclusion, we provide the first molecular profiling study of AML patients in Kenya including application of advanced next generation sequencing technologies, highlighting current limitations of AML diagnostics and treatment while confirming the relevance of NGS in AML characterization. |
| first_indexed | 2024-04-12T12:47:48Z |
| format | Article |
| id | doaj.art-00ccaf2674ab45c1939ae8784b774606 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T12:47:48Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-00ccaf2674ab45c1939ae8784b7746062022-12-22T03:32:34ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-06-011310.3389/fgene.2022.843705843705Molecular Profiling of Kenyan Acute Myeloid Leukemia PatientsMercy Gatua0Mercy Gatua1Mohsen Navari2Mohsen Navari3Mohsen Navari4Matilda Ong’ondi5Noel Onyango6Serah Kaggia7Emily Rogena8Giuseppe Visani9Nicholas A. Abinya10Pier Paolo Piccaluga11Pier Paolo Piccaluga12Pier Paolo Piccaluga13Pier Paolo Piccaluga14Biobank of Research, IRCCS S. Orsola-Malpighi Academic Hospital, Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology and Medical Oncology “L. and A. Seràgnoli”, University of Bologna School of Medicine, Bologna, ItalyKenyatta National Hospital, Nairobi, KenyaDepartment of Medical Biotechnology, School of Paramedical Sciences, Torbat Heydariyeh University of Medical Sciences, Torbat Heydariyeh, IranBioinformatics Research Group, Mashhad University of Medical Sciences, Mashhad, IranResearch Center of Advanced Technologies in Medicine, Torbat Heydariyeh University of Medical Sciences, Torbat Heydariyeh, IranKenyatta National Hospital, Nairobi, KenyaNairobi Hospital, University of Nairobi, Nairobi, KenyaDepartment of Pathology, School of Medicine, Jomo Kenyatta University of Agriculture and Technology, Juja, KenyaDepartment of Pathology, School of Medicine, Jomo Kenyatta University of Agriculture and Technology, Juja, KenyaHematology and Stem Cell Transplantation, AORMN, Pesaro, ItalyNairobi Hospital, University of Nairobi, Nairobi, KenyaBiobank of Research, IRCCS S. Orsola-Malpighi Academic Hospital, Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology and Medical Oncology “L. and A. Seràgnoli”, University of Bologna School of Medicine, Bologna, ItalyDepartment of Pathology, School of Medicine, Jomo Kenyatta University of Agriculture and Technology, Juja, KenyaIstituto Euro-Mediterraneo di Scienza e Tecnologia (IEMEST), Palermo, Italy0Nanchang University, Nanchang, ChinaAcute myeloid leukemia (AML) is an infrequent disease, and it is associated with high morbidity and mortality. It harbors a unique configuration of cytogenetic abnormalities and molecular mutations that can be detected using microscopic and molecular methods respectively. These genetic tests are core elements of diagnosis and prognostication in high-income countries. They are routinely incorporated in clinical decision making, allowing for the individualization of therapy. However, these tests are largely inaccessible to most patients in Kenya and therefore no data has been reported on this group of patients. The main purpose of this study is to describe the cytogenetic and molecular abnormalities of acute myeloid leukemia patients seen at the hemato-oncology unit of Kenyatta National Hospital. A cross-sectional descriptive study was carried out over a 3-month period on ten patients with a diagnosis of AML. Social demographics and clinical data were collected through a study proforma. A peripheral blood sample was collected for conventional metaphase G-banding technique and next generation sequencing. Particularly, targeted DNA sequencing (Illumina myeloid panel) and whole exome sequencing (WES) were performed. Cytogenetic analysis failed in 10/10 cases. Targeted sequencing was successfully obtained in 8 cases, whereas WES in 7. Cytogenetic studies yielded no results. There were 20 mutations detected across 10 commonly mutated genes. All patients had at least one clinically relevant mutation. Based on ELN criteria, NGS identified three patients with high-risk mutations, affecting TP53 (n = 2) and RUNX1 (n = 1). One patient was classified as favorable (PML-RARA) while 4 were standard risk. However, WT1 mutations associated with unfavorable prognosis were recorded in additional 2 cases. WES showed concordant results with targeted sequencing while unveiling more mutations that warrant further attention. In conclusion, we provide the first molecular profiling study of AML patients in Kenya including application of advanced next generation sequencing technologies, highlighting current limitations of AML diagnostics and treatment while confirming the relevance of NGS in AML characterization.https://www.frontiersin.org/articles/10.3389/fgene.2022.843705/fullacute myeloid leukemianext generation sequencingilluminamyeloid panelELNcytogenetics |
| spellingShingle | Mercy Gatua Mercy Gatua Mohsen Navari Mohsen Navari Mohsen Navari Matilda Ong’ondi Noel Onyango Serah Kaggia Emily Rogena Giuseppe Visani Nicholas A. Abinya Pier Paolo Piccaluga Pier Paolo Piccaluga Pier Paolo Piccaluga Pier Paolo Piccaluga Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients Frontiers in Genetics acute myeloid leukemia next generation sequencing illumina myeloid panel ELN cytogenetics |
| title | Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients |
| title_full | Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients |
| title_fullStr | Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients |
| title_full_unstemmed | Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients |
| title_short | Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients |
| title_sort | molecular profiling of kenyan acute myeloid leukemia patients |
| topic | acute myeloid leukemia next generation sequencing illumina myeloid panel ELN cytogenetics |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.843705/full |
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