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 & Oncology

Akifumi Takaori-Kondo¹  Norimitsu Kadowaki¹  Kouhei Yamashita¹  Masakatsu Hishizawa¹  Yayoi Shimazu¹  Noriko Sugino¹  Masahiro Kawahara¹  Yuya Nagai¹ 

[1] Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, 54 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan

关键词: Resistant clone;    Tyrosine kinase inhibitor;    Lymphoblastic leukemia;    BCR-ABL1;    Myeloproliferative neoplasms;    JAK2-V617F;   

Others  :  810546
DOI  :  10.1186/2162-3619-3-6

 received in 2014-01-29, accepted in 2014-02-12,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Nagai et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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