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Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era
Acute promyelocytic leukemia (APL) is a unique leukemia that is characterized by the PML::RARA fusion. This fusion is often detected by conventional karyotype and fluorescence in situ hybridization (FISH); however, rare cases are cryptic and require molecular techniques to identify the PML::RARA fus...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092513/ https://www.ncbi.nlm.nih.gov/pubmed/35572917 http://dx.doi.org/10.1016/j.lrr.2022.100320 |
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author | Karlin, Kirill Bryke, Christine Dias, Ajoy Michaels, Phillip |
author_facet | Karlin, Kirill Bryke, Christine Dias, Ajoy Michaels, Phillip |
author_sort | Karlin, Kirill |
collection | PubMed |
description | Acute promyelocytic leukemia (APL) is a unique leukemia that is characterized by the PML::RARA fusion. This fusion is often detected by conventional karyotype and fluorescence in situ hybridization (FISH); however, rare cases are cryptic and require molecular techniques to identify the PML::RARA fusion. Furthermore, as the incidence of these cases is rare, analysis by a targeted next-generation sequencing (NGS) panel of myeloid associated genes has never been reported. Herein, a clinical APL case is reported where the PML::RARA fusion was detected only by reverse transcriptase-polymerase chain reaction (RT-PCR), thus underscoring the necessity of utilizing complementary techniques when suspicion for APL is present. |
format | Online Article Text |
id | pubmed-9092513 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-90925132022-05-12 Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era Karlin, Kirill Bryke, Christine Dias, Ajoy Michaels, Phillip Leuk Res Rep Article Acute promyelocytic leukemia (APL) is a unique leukemia that is characterized by the PML::RARA fusion. This fusion is often detected by conventional karyotype and fluorescence in situ hybridization (FISH); however, rare cases are cryptic and require molecular techniques to identify the PML::RARA fusion. Furthermore, as the incidence of these cases is rare, analysis by a targeted next-generation sequencing (NGS) panel of myeloid associated genes has never been reported. Herein, a clinical APL case is reported where the PML::RARA fusion was detected only by reverse transcriptase-polymerase chain reaction (RT-PCR), thus underscoring the necessity of utilizing complementary techniques when suspicion for APL is present. Elsevier 2022-05-04 /pmc/articles/PMC9092513/ /pubmed/35572917 http://dx.doi.org/10.1016/j.lrr.2022.100320 Text en © 2022 The Authors. Published by Elsevier Ltd. 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 | Article Karlin, Kirill Bryke, Christine Dias, Ajoy Michaels, Phillip Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era |
title | Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era |
title_full | Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era |
title_fullStr | Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era |
title_full_unstemmed | Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era |
title_short | Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era |
title_sort | cytogenetically cryptic pml::rara fusion in acute promyelocytic leukemia: testing strategies in the modern era |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092513/ https://www.ncbi.nlm.nih.gov/pubmed/35572917 http://dx.doi.org/10.1016/j.lrr.2022.100320 |
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