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Case Reports in Hematology
Volume 2017, Article ID 9071702, 5 pages
Case Report

Chronic Myeloid Leukemia with an e6a2 BCR-ABL1 Fusion Transcript: Cooperating Mutations at Blast Crisis and Molecular Monitoring

1Cancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, Ireland
2Department of Haematology, St. James’s Hospital, Dublin 8, Ireland
3Department of Haematology, Bon Secours Hospital, Cork, Ireland
4Department of Haematology, Cork University Hospital, Cork, Ireland

Correspondence should be addressed to Stephen E. Langabeer; ei.semajts@reebagnals

Received 10 July 2017; Revised 13 September 2017; Accepted 17 September 2017; Published 16 October 2017

Academic Editor: Sergio Storti

Copyright © 2017 Mireille Crampe et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


A minority of chronic myeloid leukemia patients (CML) express a variety of atypical BCR-ABL1 fusion variants and, of these, the e6a2 BCR-ABL1 fusion is generally associated with an aggressive disease course. Progression of CML to blast crisis is associated with acquisition of additional somatic mutations yet these events have not been elucidated in patients with the e6a2 BCR-ABL1 genotype. Moreover, molecular monitoring is only sporadically performed in CML patients with atypical BCR-ABL1 fusion transcripts due to lack of consensus approaches or standardization. A case of CML is described in which comprehensive molecular analysis, including targeted next-generation sequencing, revealed a single ASXL1 mutation cooperating with an e6a2 BCR-ABL1 fusion transcript at blast crisis. A quantitative molecular monitoring approach was devised and adopted that reflected the disease response from initial treatment through allogeneic stem cell transplantation which resulted in undetectable e6a2 BCR-ABL1 transcripts. This case emphasizes the requirement for molecular monitoring in CML patients with atypical BCR-ABL1 fusion transcripts and emphasizes that comprehensive sequencing has the potential to identify targets for novel therapies in CML patients with advanced disease.