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BioMed Research International
Volume 2013 (2013), Article ID 164501, 4 pages
http://dx.doi.org/10.1155/2013/164501
Research Article

FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size

1Victorian Cancer Cytogenetics Service, St Vincent's Hospital Melbourne, Fitzroy, VIC 3065, Australia
2Department of Medicine, St Vincent's Hospital, University of Melbourne, Fitzroy, VIC 3065, Australia
3LabPLUS, Auckland City Hospital, Auckland 1023, New Zealand
4Sullivan & Nicolaides Pathology, Indooroopilly, Brisbane, QLD 4068, Australia
5Department of Haematology, Alfred Hospital, Prahran, VIC 3004, Australia
6Department of Haematology, Auckland City Hospital, Auckland 1023, New Zealand
7Department of Haematology, Royal Melbourne Hospital, Parkville, VIC 3050, Australia
8Department of Molecular Medicine & Pathology, University of Auckland, Auckland 1142, New Zealand

Received 22 October 2012; Accepted 4 March 2013

Academic Editor: Yasemin Alanay

Copyright © 2013 Lynda J. Campbell 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.

Abstract

The diagnosis of acute promyelocytic leukaemia (APL) is usually confirmed by cytogenetics showing the characteristic t(15;17), but a minority of patients have a masked PML/RARA fusion. We report ten patients with APL and no evidence of the t(15;17), in whom the insertion of RARA into PML could not be demonstrated by initial FISH studies using a standard dual fusion probe but was readily identified using smaller probes. Given the need for rapid diagnosis of APL, it is important to be aware of the false negative rate for large PML/RARA FISH probes in the setting of masked rearrangements.