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Title: A case of minor BCR-ABL1 positive acute lymphoblastic leukemia following essential thrombocythemia and originating from a clone distinct from that harboring the JAK2-V617F mutation.
Authors: Nagai, Yuya
Kawahara, Masahiro
Sugino, Noriko
Shimazu, Yayoi
Hishizawa, Masakatsu
Yamashita, Kouhei
Kadowaki, Norimitsu
Takaori-Kondo, Akifumi
Author's alias: 河原, 真大
Keywords: JAK2-V617F
Myeloproliferative neoplasms
Lymphoblastic leukemia
Tyrosine kinase inhibitor
Resistant clone
Issue Date: 17-Feb-2014
Publisher: BioMed Central Ltd.
Journal title: Experimental hematology & oncology
Volume: 3
Issue: 1
Thesis number: 6
Abstract: Here we report on a case of Philadelphia chromosome positive B lymphoblastic leukemia (Ph+ALL), which developed following a long duration of essential thrombocythemia (ET). A mutational analysis of Janus Kinase 2 (JAK2) revealed that the V617F mutation was present in granulocytes and in hematopoietic stem and progenitor cells (HSPCs), but not in the CD34+CD19+ population that mostly consists of Ph+ALL cells, indicating that this Ph+ALL clone did not originate from the ET clone carrying the JAK2-V617F mutation. The minor BCR-ABL1 fusion was detected not only in the CD34+CD19+ population but also in HSPCs and granulocytes, indicating that the Philadelphia chromosome was acquired in an early hematopoietic stage at least prior to the commitment to B cell development. Upon dasatinib treatment, the minor BCR-ABL1 transcript rapidly disappeared in HSPCs but persisted in the CD34+CD19+ population. A relapse of Ph+ALL occurred nine months later without the disappearance of the minor BCR-ABL1 transcript in the bone marrow cells during the treatment course, suggesting that a resistant Ph+ALL clone may have arisen or been selected in the committed B cells rather than in HSPCs. This case report may partly contribute to filling the gap between previous data acquired from mice experiments and the phenomenon in real patients.
Rights: © 2014 Nagai et al.; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
DOI(Published Version): 10.1186/2162-3619-3-6
PubMed ID: 24528501
Appears in Collections:Journal Articles

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