Identification of a novel TNRC18-RARA fusion in acute promyelocytic leukemia lacking t(15;17)(q24;q12)/PML-RARA

Mol Carcinog. 2021 Feb;60(2). doi: 10.1002/mc.23276. Epub 2021 Jan 11.

Abstract

Acute promyelocytic leukemia (APL) is a unique disease entity in acute myeloid leukemia, characterized by PML-RARA fusion gene, which is generated by chromosomal translocation t(15;17)(q24;q21). We identified TNRC18-RARA as novel RARA fusion in resembling APL. Our study highlights the importance of combining multiple molecular techniques to characterize and optimally manage APL lacking classic t(15;17)(q24;q12)/PML-RARA fusion.

Keywords: PML-RARA; RARA; TNRC18; acute promyelocytic leukemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Gene Expression Regulation, Leukemic
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / metabolism
  • Leukemia, Promyelocytic, Acute / pathology
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • Retinoic Acid Receptor alpha / genetics*
  • Retinoic Acid Receptor alpha / metabolism
  • Translocation, Genetic*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins, Fusion
  • RARA protein, human
  • Retinoic Acid Receptor alpha
  • TNRC18 protein, human