Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Shi, Xue-Bing, Jiang, Ji-Fa, Jin, Feng-Xiang, Cheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
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
_version_ 1783417622841262080
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
work_keys_str_mv AT shixuebing coexistenceofbreakpointclusterregionabelson1rearrangementandjanuskinase2v617fmutationinchronicmyeloidleukemiaacasereport
AT jiangjifa coexistenceofbreakpointclusterregionabelson1rearrangementandjanuskinase2v617fmutationinchronicmyeloidleukemiaacasereport
AT jinfengxiang coexistenceofbreakpointclusterregionabelson1rearrangementandjanuskinase2v617fmutationinchronicmyeloidleukemiaacasereport
AT chengwei coexistenceofbreakpointclusterregionabelson1rearrangementandjanuskinase2v617fmutationinchronicmyeloidleukemiaacasereport