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...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-01-01
|
| Series: | Leukemia Research Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213048922000231 |
| _version_ | 1818524095125389312 |
|---|---|
| author | Maki Hirao Kentaro Watanabe Yuiko Tsukada Hisako Kunieda Makoto Osada Kohei Yamazaki Ryunosuke Denda Shinichiro Okamoto Takahide Kikuchi |
| author_facet | Maki Hirao Kentaro Watanabe Yuiko Tsukada Hisako Kunieda Makoto Osada Kohei Yamazaki Ryunosuke Denda Shinichiro Okamoto Takahide Kikuchi |
| author_sort | Maki Hirao |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T05:52:55Z |
| format | Article |
| id | doaj.art-81056f6edff44bda9d5ba93a125c6be5 |
| institution | Directory Open Access Journal |
| issn | 2213-0489 |
| language | English |
| last_indexed | 2024-12-11T05:52:55Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Leukemia Research Reports |
| spelling | doaj.art-81056f6edff44bda9d5ba93a125c6be52022-12-22T01:18:46ZengElsevierLeukemia Research Reports2213-04892022-01-0117100311Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutationMaki Hirao0Kentaro Watanabe1Yuiko Tsukada2Hisako Kunieda3Makoto Osada4Kohei Yamazaki5Ryunosuke Denda6Shinichiro Okamoto7Takahide Kikuchi8Corresponding author at: Division of Hematology, Department of Medicine, Saiseikai Central Hospital, 4-17 Mita 1-Chome, Minato, Tokyo 108-0073, Japan.; Division of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanDivision of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, JapanChronic 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.http://www.sciencedirect.com/science/article/pii/S2213048922000231Chronic neutrophilic leukemiaAcute myeloid leukemiat(4 ； 12)(q12 ； p13)SETBP1 |
| spellingShingle | Maki Hirao Kentaro Watanabe Yuiko Tsukada Hisako Kunieda Makoto Osada Kohei Yamazaki Ryunosuke Denda Shinichiro Okamoto Takahide Kikuchi Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation Leukemia Research Reports Chronic neutrophilic leukemia Acute myeloid leukemia t(4 ； 12)(q12 ； p13) SETBP1 |
| 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 | Chronic neutrophilic leukemia Acute myeloid leukemia t(4 ； 12)(q12 ； p13) SETBP1 |
| url | http://www.sciencedirect.com/science/article/pii/S2213048922000231 |
| work_keys_str_mv | AT makihirao rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT kentarowatanabe rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT yuikotsukada rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT hisakokunieda rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT makotoosada rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT koheiyamazaki rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT ryunosukedenda rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT shinichirookamoto rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation AT takahidekikuchi rareevolutionofcsf3rmutatedchronicneutrophilicleukemiatot412q12p13acutemyeloidleukemiawithsetbp1mutation |