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

Jess F. Peterson, Rui R. He, Hassan Nayer, Raymund S. Cuevo, James B. Smadbeck, George Vasmatzis, Patricia T. Greipp, Rhett P. Ketterling, Nicole L. Hoppman, Linda B. Baughn

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)51-54
Number of pages4
JournalCancer Genetics
Volume237
DOIs
StatePublished - 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

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