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Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report
BACKGROUND: The Janus kinase 2 (JAK2) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (BCR-ABL1)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic m...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511928/ https://www.ncbi.nlm.nih.gov/pubmed/31123683 http://dx.doi.org/10.12998/wjcc.v7.i9.1087 |
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author | Shi, Xue-Bing Jiang, Ji-Fa Jin, Feng-Xiang Cheng, Wei |
author_facet | Shi, Xue-Bing Jiang, Ji-Fa Jin, Feng-Xiang Cheng, Wei |
author_sort | Shi, Xue-Bing |
collection | PubMed |
description | BACKGROUND: The Janus kinase 2 (JAK2) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (BCR-ABL1)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia (CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617F mutation. CASE SUMMARY: A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46, XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis, rearrangement of BCR-ABL1 (32.31%) by fluorescent polymerase chain reaction (PCR) and mutation of JAK2 V617F (10%) by PCR and Sanger DNA sequencing. The patient was diagnosed with CML and JAK2 V617F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCR-ABL1 (IS) was 0.143%, while the mutation rate of JAK2 V617F rose to 15%. CONCLUSION: Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies. |
format | Online Article Text |
id | pubmed-6511928 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-65119282019-05-23 Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report Shi, Xue-Bing Jiang, Ji-Fa Jin, Feng-Xiang Cheng, Wei World J Clin Cases Case Report BACKGROUND: The Janus kinase 2 (JAK2) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (BCR-ABL1)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia (CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617F mutation. CASE SUMMARY: A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46, XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis, rearrangement of BCR-ABL1 (32.31%) by fluorescent polymerase chain reaction (PCR) and mutation of JAK2 V617F (10%) by PCR and Sanger DNA sequencing. The patient was diagnosed with CML and JAK2 V617F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCR-ABL1 (IS) was 0.143%, while the mutation rate of JAK2 V617F rose to 15%. CONCLUSION: Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies. Baishideng Publishing Group Inc 2019-05-06 2019-05-06 /pmc/articles/PMC6511928/ /pubmed/31123683 http://dx.doi.org/10.12998/wjcc.v7.i9.1087 Text en ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. |
spellingShingle | Case Report Shi, Xue-Bing Jiang, Ji-Fa Jin, Feng-Xiang Cheng, Wei Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report |
title | Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report |
title_full | Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report |
title_fullStr | Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report |
title_full_unstemmed | Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report |
title_short | Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report |
title_sort | coexistence of breakpoint cluster region-abelson1 rearrangement and janus kinase 2 v617f mutation in chronic myeloid leukemia: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511928/ https://www.ncbi.nlm.nih.gov/pubmed/31123683 http://dx.doi.org/10.12998/wjcc.v7.i9.1087 |
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