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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

Experimental Hematology and Oncology, ISSN: 2162-3619, Vol: 3, Issue: 1, Page: 6
2014
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Article Description

Here we report on a case of Philadelphia chromosome positive B lymphoblastic leukemia (PhALL), 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 CD34CD19 population that mostly consists of PhALL cells, indicating that this PhALL clone did not originate from the ET clone carrying the JAK2-V617F mutation. The minor BCR-ABL1 fusion was detected not only in the CD34CD19 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 CD34CD19 population. A relapse of PhALL 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 PhALL 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. © 2014 Nagai et al.; licensee BioMed Central Ltd.

Bibliographic Details

Nagai, Yuya; Kawahara, Masahiro; Sugino, Noriko; Shimazu, Yayoi; Hishizawa, Masakatsu; Yamashita, Kouhei; Kadowaki, Norimitsu; Takaori-Kondo, Akifumi

Springer Science and Business Media LLC

Medicine; Biochemistry, Genetics and Molecular Biology

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