Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy.
The detection of PML/RARA or variant RARA rearrangements is critical for the diagnosis and treatment of patients with newly diagnosed acute promyelocytic leukemia (APL). While most cases of APL harboring the PML/RARA fusion respond to all-trans retinoic acid (ATRA), some variant RARA rearrangements are ATRA insensitive. Herein, we report a 27-year-old male with newly diagnosed, rapidly progressive APL and a rarely described STAT5B/RARA fusion with known resistance to ATRA therapy. While the PML/RARA dual-color dual-fusion fluorescence in situ hybridization (FISH) probe study was negative, the RARA break-apart probe study revealed an atypical RARA rearrangement in 95% of nuclei. A next generation sequencing assay, mate-pair sequencing, was subsequently performed to further characterize the RARA rearrangement and identified the RARA gene fusion partner STAT5B.
['Peterson|Jess F|JF|', 'He|Rui R|RR|', 'Nayer|Hassan|H|', 'Cuevo|Raymund S|RS|', 'Smadbeck|James B|JB|', 'Vasmatzis|George|G|', 'Greipp|Patricia T|PT|', 'Ketterling|Rhett P|RP|', 'Hoppman|Nicole L|NL|', 'Baughn|Linda B|LB|']
D000328:Adult D050939:Gene Fusion D006801:Humans D017404:In Situ Hybridization, Fluorescence D015473:Leukemia, Promyelocytic, Acute D008297:Male D000072482:Retinoic Acid Receptor alpha D050799:STAT5 Transcription Factor D014212:Tretinoin
STAT5B RARA Acute promyelocytic leukemia (APL) Mate-pair sequencing (MPseq) Next generation sequencing (NGS)