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STAT5b-RARa-positive acute myeloid leukemia: Diagnostic and therapeutic challenges of a rare AML subtype

2019; Elsevier BV; Volume: 78; Linguagem: Inglês

10.1016/j.leukres.2019.01.004

1873-5835

Giulia Ciangola, Carmelo Gurnari, Giovangiacinto Paterno, M Mirabile, Mario Angelini, Serena Lavorgna, Tiziana Ottone, Serena Travaglini, Laura Cicconi, Francesco Lo‐Coco,

Histone Deacetylase Inhibitors Research

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.