Abstract
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.
Original language | English (US) |
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Pages (from-to) | 51-54 |
Number of pages | 4 |
Journal | Cancer Genetics |
Volume | 237 |
DOIs | |
State | Published - Sep 2019 |
Keywords
- Acute promyelocytic leukemia (APL)
- Mate-pair sequencing (MPseq)
- Next generation sequencing (NGS)
- RARA
- STAT5B
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Cancer Research