The t1517PMLRARa Translocation

The highly specific t(15;17) translocation is present in at least 90 percent of all acute myelocytic leukemia (APL) cases. Using molecular techniques, virtually 100 percent of APL have the t(15;17). This translocation fuses the PML gene of the chromosome 15 to the retinoic acid receptor-a. (RARa) gene, producing chimeric PML/RARa gene.115 This fusion confers the exquisite sensitivity of this tumor to differentiation by ATRA.116 Treatment of APL with ATRA has become a mainstay of therapy for APL. For these reasons, accurate diagnosis of APL is critical.

In a small number of APL patients two other novel translocations [e.g., a fusion product between a novel zinc finger gene and retinoic acid receptor with the t(11;17)(q23;q21)117 and a different translocation t(5;17)(q32;q12)] associated with the NPM/RARa fusion gene118 were also described. Morphological features in those patients are intermediate between M2 and classic M3 and they do not respond to ATRA.

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