title: FISH detection of PML-RARA fusion in ins(15;17) acute promyelocytic leukaemia depends on probe size.
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.
authors.affiliation: Victorian Cancer Cytogenetics Service, St Vincent's Hospital Melbourne, Fitzroy, VIC 3065, Australia. lynda.campbell@svhm.org.au
authors.forename: Lynda J
authors.initials: LJ
authors.lastname: Campbell
authors.forename: Paul
authors.initials: P
authors.lastname: Oei
authors.forename: Ross
authors.initials: R
authors.lastname: Brookwell
authors.forename: Jake
authors.initials: J
authors.lastname: Shortt
authors.forename: Nicola
authors.initials: N
authors.lastname: Eaddy
authors.forename: Ashley
authors.initials: A
authors.lastname: Ng
authors.forename: Edward
authors.initials: E
authors.lastname: Chew
authors.forename: Peter
authors.initials: P
authors.lastname: Browett
mesh_terms: D000328:Adult; D000368:Aged; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein