B1 Non-refereed article in a scientific journal
Acute Lymphoblastic Leukemia with INPP5D-ABL1 Fusion Responds to Imatinib Treatment
Authors: Poukka M., Lund-Aho T., Raittinen P., Nikkilä A., Kivinen K., Lundán T., Porkka K., Lohi O.
Publisher: Lippincott Williams and Wilkins
Publication year: 2018
Journal: Journal of Pediatric Hematology/Oncology
Journal name in source: Journal of Pediatric Hematology/Oncology
Volume: 41
Issue: 7
Number of pages: 3
ISSN: 1077-4114
eISSN: 1536-3678
DOI: https://doi.org/10.1097/MPH.0000000000001267
We describe a patient with Down syndrome whose precursor B-cell acute lymphoblastic leukemia cells expressed INPP5D-ABL1 fusion gene that resulted in a reciprocal chromosome translocation t(2;9)(q27;q34). The fusion gene was present as a small subclone in the primary disease but was first identified at relapse when the subclone had expanded into a major clone. At relapse, the patient responded poorly to conventional induction chemotherapy but a transient morphologic remission was achieved after administration of imatinib monotherapy. This case demonstrates a pathway to relapse in a Down syndrome patients with acute lymphoblastic leukemia through a rare fusion event. It highlights the significance of minor subclonal events in therapy resistance and the opportunity provided for targeted therapy.