FISH showing t(15;17)(q24;q21), PML/RARA TRANSLOCATION

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FISH showing t(15;17)(q24;q21), PML/RARA TRANSLOCATION

#00061450

Author: Mr Anil Kumar Yadav, Dr Manorama Bhargava
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Acute Myeloid Leukemia > Acute Myeloid Leukemia with recurrent genetic abnormalities > AML with t(15;17)(q22;q12); PML-RARA (and variants)
Published Date: 05/22/2018

27 years old male patient showing t(15;17)(q24;q21) by FISH, this translocation involve PML gene on chromosome 15 and RARA gene on chromosome 17. This translocation may be missed by routine cytogenetics due to cryptic submicroscopic insertion of RARA into the PML gene. Karyotyping along with FISH helps to rule out the partner chromosome(s) of chromosome 17. The aberrant pattern may be confirmed by RARA break apart probe or suspected by three RARA signals when DC, DF probe is used(confirmed by matched metaphase).

FISH with the LSI PML/RARA Dual Color Dual Fusion Translocation Probe (Zytovision) on a peripheral blood cell sample, showing two interphase nuclei with two fusion(PML/RARA on derivative 15 and RARA/PML on derivative 17) signals, one red(PML) and one green(RARA) signals.