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Case Reports in Hematology
Volume 2017 (2017), Article ID 7657393, 4 pages
Case Report

Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia

1Cancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, Ireland
2Department of Clinical Genetics, Our Lady’s Children Hospital, Dublin 12, Ireland
3Department of Haematology, Galway University Hospital, Galway, Ireland

Correspondence should be addressed to Stephen E. Langabeer

Received 24 February 2017; Accepted 9 April 2017; Published 26 April 2017

Academic Editor: Massimo Gentile

Copyright © 2017 Stephen E. Langabeer 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.


Several variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with the cytogenetic and molecular characterization of a case of ATRA-unresponsive ZBTB16-RARA APL is described. Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. This technique identified a solitary, low level mutation in the CEBPA gene. Molecular profiling of additional mutations may provide a platform to individualise therapeutic management in patients with this rare form of APL.