Acute promyelocytic leukemia t(15;17)
46,XY,t(15;17)(q24;q21)
Also known as: APL, PML-RARA, t(15;17)
46,XY,t(15;17)(q24;q21) is the defining translocation of acute promyelocytic leukemia (APL), fusing PML on chromosome 15 with RARA on chromosome 17. The fusion makes APL uniquely responsive to all-trans retinoic acid, so recognizing it changes treatment.
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der(15)
15
der(17)
17
What the notation means
46- total chromosome count (the normal human number)
XY- sex chromosomes: one X, one Y (usual male karyotype)
t(15;17)(q24;q21)- a reciprocal TRANSLOCATION: chromosomes 15 and 17 break (at 15q24 and 17q21) and swap the pieces beyond those breaks, giving two derivative chromosomes der(15) and der(17)
Clinical notes
t(15;17), Acute promyelocytic leukemia
t(15;17)(q24;q21) fuses PML::RARA. APL (formerly FAB AML-M3); responsive to all-trans retinoic acid (ATRA) and arsenic. A medical emergency due to DIC.