Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disease accompanied by mutations in CSF3R. Here, we present a patient with CNL who developed to acute myeloid leukemia (AML) at the same time that a t(4;12)(q12;p13) translocation appeared. The uniqueness of this cytogenetic abnormalit...

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Autores principales: Hirao, Maki, Watanabe, Kentaro, Tsukada, Yuiko, Kunieda, Hisako, Osada, Makoto, Yamazaki, Kohei, Denda, Ryunosuke, Okamoto, Shinichiro, Kikuchi, Takahide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046630/
https://www.ncbi.nlm.nih.gov/pubmed/35497674
http://dx.doi.org/10.1016/j.lrr.2022.100311
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author Hirao, Maki
Watanabe, Kentaro
Tsukada, Yuiko
Kunieda, Hisako
Osada, Makoto
Yamazaki, Kohei
Denda, Ryunosuke
Okamoto, Shinichiro
Kikuchi, Takahide
author_facet Hirao, Maki
Watanabe, Kentaro
Tsukada, Yuiko
Kunieda, Hisako
Osada, Makoto
Yamazaki, Kohei
Denda, Ryunosuke
Okamoto, Shinichiro
Kikuchi, Takahide
author_sort Hirao, Maki
collection PubMed
description Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disease accompanied by mutations in CSF3R. Here, we present a patient with CNL who developed to acute myeloid leukemia (AML) at the same time that a t(4;12)(q12;p13) translocation appeared. The uniqueness of this cytogenetic abnormality led us to delineate the molecular aberrations relevant for clonal evolution. While the CSF3R mutation was present throughout the course of the disease, the SETBP1 mutation was newly acquired at the AML transformation. The present case suggests that careful monitoring of t(4;12)(q12;p13) and SETBP1 is crucial to predict AML evolution in CNL patients.
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spelling pubmed-90466302022-04-29 Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation Hirao, Maki Watanabe, Kentaro Tsukada, Yuiko Kunieda, Hisako Osada, Makoto Yamazaki, Kohei Denda, Ryunosuke Okamoto, Shinichiro Kikuchi, Takahide Leuk Res Rep Article Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disease accompanied by mutations in CSF3R. Here, we present a patient with CNL who developed to acute myeloid leukemia (AML) at the same time that a t(4;12)(q12;p13) translocation appeared. The uniqueness of this cytogenetic abnormality led us to delineate the molecular aberrations relevant for clonal evolution. While the CSF3R mutation was present throughout the course of the disease, the SETBP1 mutation was newly acquired at the AML transformation. The present case suggests that careful monitoring of t(4;12)(q12;p13) and SETBP1 is crucial to predict AML evolution in CNL patients. Elsevier 2022-04-12 /pmc/articles/PMC9046630/ /pubmed/35497674 http://dx.doi.org/10.1016/j.lrr.2022.100311 Text en © 2022 The Author(s). 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
Hirao, Maki
Watanabe, Kentaro
Tsukada, Yuiko
Kunieda, Hisako
Osada, Makoto
Yamazaki, Kohei
Denda, Ryunosuke
Okamoto, Shinichiro
Kikuchi, Takahide
Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation
title Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation
title_full Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation
title_fullStr Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation
title_full_unstemmed Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation
title_short Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation
title_sort rare evolution of csf3r-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with setbp1 mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046630/
https://www.ncbi.nlm.nih.gov/pubmed/35497674
http://dx.doi.org/10.1016/j.lrr.2022.100311
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