Format

Send to

Choose Destination
Cancer Genet. 2019 Sep;237:51-54. doi: 10.1016/j.cancergen.2019.06.007. Epub 2019 Jun 12.

Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy.

Author information

1
Division of Laboratory Medicine and Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, United States. Electronic address: peterson.jess@mayo.edu.
2
Department of Pathology, Inova Fairfax Hospital, Falls Church, VA, United States.
3
Inova Schar Cancer Institute, Inova Fairfax Hospital, Falls Church, VA, United States.
4
Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, United States.
5
Division of Laboratory Medicine and Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, United States.

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.

KEYWORDS:

Acute promyelocytic leukemia (APL); Mate-pair sequencing (MPseq); Next generation sequencing (NGS); RARA; STAT5B

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center