BCOR as a novel fusion partner of retinoic acid receptor alpha in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia

Blood. 2010 Nov 18;116(20):4274-83. doi: 10.1182/blood-2010-01-264432. Epub 2010 Aug 31.

Abstract

The majority of acute promyelocytic leukemia (APL) cases are characterized by the presence of a promyelocytic leukemia-retinoic acid receptor alpha(RARA) fusion gene. In a small subset, RARA is fused to a different partner, usually involved in regulating cell growth and differentiation. Here, we identified a novel RARA fusion transcript, BCOR-RARA, in a t(X;17)(p11;q12) variant of APL with unique morphologic features, including rectangular and round cytoplasmic inclusion bodies. Although the patient was clinically responsive to all-trans retinoic acid, several relapses occurred with standard chemotherapy and all-trans retinoic acid. BCOR is a transcriptional corepressor through the proto-oncoprotein, BCL6, recruiting histone deacetylases and polycomb repressive complex 1 components. BCOR-RARA was found to possess common features with other RARA fusion proteins. These included: (1) the same break point in RARA cDNA; (2) self-association; (3) retinoid X receptor alpha is necessary for BCOR-RARA to associate with the RARA responsive element; (4) action in a dominant-negative manner on RARA transcriptional activation; and (5) aberrant subcellular relocalization. It should be noted that there was no intact BCOR found in the 45,-Y,t(X;17)(p11;q12) APL cells because they featured only a rearranged X chromosome. These results highlight essential features of pathogenesis in APL in more detail. BCOR appears to be involved not only in human congenital diseases, but also in a human cancer.

Publication types

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

MeSH terms

  • Base Sequence
  • Cell Line, Tumor
  • Chromosomes, Human, Pair 17 / genetics*
  • Chromosomes, Human, X / genetics*
  • Cloning, Molecular
  • DNA-Binding Proteins / metabolism
  • Genes, Dominant / genetics
  • Humans
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / pathology
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / metabolism*
  • Protein Binding / drug effects
  • Protein Transport / drug effects
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism*
  • Proto-Oncogene Proteins c-bcl-6
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Retinoic Acid / genetics
  • Receptors, Retinoic Acid / metabolism*
  • Repressor Proteins / genetics
  • Repressor Proteins / metabolism*
  • Response Elements / genetics
  • Retinoic Acid Receptor alpha
  • Subcellular Fractions / drug effects
  • Subcellular Fractions / metabolism
  • Transcriptional Activation / drug effects
  • Transcriptional Activation / genetics
  • Translocation, Genetic* / drug effects
  • Tretinoin / pharmacology

Substances

  • BCL6 protein, human
  • BCOR protein, human
  • DNA-Binding Proteins
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-6
  • RARA protein, human
  • RNA, Messenger
  • Receptors, Retinoic Acid
  • Repressor Proteins
  • Retinoic Acid Receptor alpha
  • Tretinoin