Retinoic acid receptors: involvement in acute promyelocytic leukemia

Cell Mol Biol (Noisy-le-grand). 1994 May;40(3):263-74.

Abstract

Acute promyelocytic leukemia (APL), is a homogeneous subgroup of acute myelogenous leukemias characterized by phenotypic and genetic markers. APL is associated with a reciprocal chromosomal translocation t(15,17) which has been shown to disrupt the retinoic acid receptor alpha (RAR alpha) gene. As a result, a portion of the RAR alpha gene becomes fused with a chromosome 15 locus termed PML (promyelocytic myeloid leukemia) from which chimeric PML/RAR alpha fusion mRNAs are expressed. The presence of these fusion transcripts in APL patients strongly support the hypothesis that both the t(15;17), and thus PML/RAR alpha, play a crucial role in the leukemogenesis of this disease. APL cells are specifically responsive to all-trans retinoic acid (ATRA) and this characteristic has allowed the first differentiation therapy with retinoic acid. However, failure or partial responses are observed and, though this has most frequently been reported in patients at second or third relapse. The molecular basis of the absence of ATRA response in these patients has not been determined.

Publication types

  • Review

MeSH terms

  • Cell Differentiation / drug effects
  • Cell Transformation, Neoplastic / genetics
  • Chromosomes, Human, Pair 15 / ultrastructure
  • Chromosomes, Human, Pair 17 / ultrastructure
  • Gene Expression Regulation, Leukemic / drug effects*
  • Humans
  • Leukemia, Promyelocytic, Acute / genetics
  • Leukemia, Promyelocytic, Acute / pathology
  • Leukemia, Promyelocytic, Acute / physiopathology*
  • Multigene Family
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / physiology*
  • Neoplastic Stem Cells / drug effects
  • Neoplastic Stem Cells / pathology
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / physiology*
  • Receptors, Retinoic Acid / drug effects
  • Receptors, Retinoic Acid / genetics
  • Receptors, Retinoic Acid / physiology*
  • Translocation, Genetic
  • Tretinoin / pharmacology*

Substances

  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • Receptors, Retinoic Acid
  • retinoic acid binding protein I, cellular
  • retinoic acid binding protein II, cellular
  • Tretinoin