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PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report

B-acute lymphoblastic leukemia (B-ALL) is commonly encountered in clinical practice. Patients present with increased percentage of lymphoblasts in bone marrow and/or peripheral blood. Immunophenotypic study by flow cytometry or immunohistochemistry is essential to establish the diagnosis. Paired box...

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Autores principales: Aladily, Tariq N., Qiqieh, Jamil F., Alshorman, Alaa, Alhyari, Salem, Khader, Majd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771627/
https://www.ncbi.nlm.nih.gov/pubmed/36570429
http://dx.doi.org/10.1055/s-0042-1758387
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author Aladily, Tariq N.
Qiqieh, Jamil F.
Alshorman, Alaa
Alhyari, Salem
Khader, Majd
author_facet Aladily, Tariq N.
Qiqieh, Jamil F.
Alshorman, Alaa
Alhyari, Salem
Khader, Majd
author_sort Aladily, Tariq N.
collection PubMed
description B-acute lymphoblastic leukemia (B-ALL) is commonly encountered in clinical practice. Patients present with increased percentage of lymphoblasts in bone marrow and/or peripheral blood. Immunophenotypic study by flow cytometry or immunohistochemistry is essential to establish the diagnosis. Paired box-5 (PAX5) is a B cell lineage protein and terminal deoxynucleotidyl transferase (TDT) is an immature marker, both of which are routinely tested in the pathologic workup of acute leukemia. In this report, we describe a case of B-ALL in a 37-year-old woman in which both PAX5 and TDT were negative. Next-generation sequencing test detected mutations in DNA methyltransferase 3 α and Fms related receptor tyrosine kinase 3 genes, which are frequently mutated in acute myeloid leukemia rather than B-ALL. The constellation of these rare findings in a single case signifies the importance of examining a wide panel of markers when the diagnosis of ALL is suspected.
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spelling pubmed-97716272022-12-22 PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report Aladily, Tariq N. Qiqieh, Jamil F. Alshorman, Alaa Alhyari, Salem Khader, Majd Avicenna J Med B-acute lymphoblastic leukemia (B-ALL) is commonly encountered in clinical practice. Patients present with increased percentage of lymphoblasts in bone marrow and/or peripheral blood. Immunophenotypic study by flow cytometry or immunohistochemistry is essential to establish the diagnosis. Paired box-5 (PAX5) is a B cell lineage protein and terminal deoxynucleotidyl transferase (TDT) is an immature marker, both of which are routinely tested in the pathologic workup of acute leukemia. In this report, we describe a case of B-ALL in a 37-year-old woman in which both PAX5 and TDT were negative. Next-generation sequencing test detected mutations in DNA methyltransferase 3 α and Fms related receptor tyrosine kinase 3 genes, which are frequently mutated in acute myeloid leukemia rather than B-ALL. The constellation of these rare findings in a single case signifies the importance of examining a wide panel of markers when the diagnosis of ALL is suspected. Thieme Medical and Scientific Publishers Pvt. Ltd. 2022-12-21 /pmc/articles/PMC9771627/ /pubmed/36570429 http://dx.doi.org/10.1055/s-0042-1758387 Text en Syrian American Medical Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Aladily, Tariq N.
Qiqieh, Jamil F.
Alshorman, Alaa
Alhyari, Salem
Khader, Majd
PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
title PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
title_full PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
title_fullStr PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
title_full_unstemmed PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
title_short PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
title_sort pax5 and tdt-negative b-acute lymphoblastic leukemia with unusual genetic mutations: a case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771627/
https://www.ncbi.nlm.nih.gov/pubmed/36570429
http://dx.doi.org/10.1055/s-0042-1758387
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