Singh Manish Kumar, Parihar Mayur, Arora Neeraj, Mishra Deepak Kumar, Bhave Saurabh Jayant, Chandy Mammen
Department of Cytogenetics, Tata Medical Center, Kolkata, India.
Department of Cytogenetics, Tata Medical Center, Kolkata, India; Department of Laboratory Hematology, Tata Medical Center, Kolkata, India.
Hematol Oncol Stem Cell Ther. 2019 Mar;12(1):50-53. doi: 10.1016/j.hemonc.2016.12.003. Epub 2017 Feb 1.
Acute promyelocytic leukemia (APML) with variant RARa translocations comprises 1-2% of APML cases. However, the diagnosis of these cases is challenging as the routine practice includes fluorescence in situ hybridization (FISH) reverse transcription polymerase chain reaction targeting the PML and RARA genes to detect PML/RARA fusions. Here, we report a case highlighting the importance of atypical FISH signal patterns in standard dual-color dual-fusion PML/RARa FISH analysis complimented by karyotyping to detect these variant RARA translocations.