Impact of fluorescence in situ hybridization in the detection of cryptic fusion transcript PML / RARA and A Complex t(5;15;17) in a case of acute promyelocytic leukemia

Özet

Genetic aspects of a 28 year-old female patient with typical morphological and clinical features of acute promyelocytic leukemia is presented. Pml/rara fusion transcript and a complex translocation involving chromosomes 5, 15 and 17 were detected by fluorescence in situ hybridization (FISH) technique which was applied as in adjunct to conventional cytogenetics. The patient deceased soon in spite of the immediate ATRA and cytostatic therapy.sociated with t(15;17) (q22;q12-21). The diagnosis of APL and the detection of residual disease are based on the presence of this translocation[1,3,4,5,6,7,15]. Rarely alternative balanced translocations have been described in subtypes of APL, and as more cases are being evaluated, complex, variant translocations are increasingly recognized[17,19,20,22, 24]. Here we report a 28 year-old female patient