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 Smadbeck, George Vasmatzis, Patricia T Greipp, Rhett P. Ketterling, Nicole L. Hoppman, Linda 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 1 2019

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Acute Promyelocytic Leukemia
Gene Fusion
Tretinoin
Young Adult
Fluorescence In Situ Hybridization
Therapeutics
Color

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy. / Peterson, Jess F.; He, Rui R.; Nayer, Hassan; Cuevo, Raymund S.; Smadbeck, James; Vasmatzis, George; Greipp, Patricia T; Ketterling, Rhett P.; Hoppman, Nicole L.; Baughn, Linda.

In: Cancer Genetics, Vol. 237, 01.09.2019, p. 51-54.

Research output: Contribution to journalArticle

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AU - Cuevo, Raymund S.

AU - Smadbeck, James

AU - Vasmatzis, George

AU - Greipp, Patricia T

AU - Ketterling, Rhett P.

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