AML bearing the translocation t(11;17)(q23;q21): involvement of MLL and a region close to RARA, with no differentiation response to retinoic acid

Ann Hematol. 2005 Nov;84(12):774-80. doi: 10.1007/s00277-005-1089-2. Epub 2005 Nov 12.

Abstract

We describe a case of acute myeloid leukemia (AML) bearing the translocation t(11;17)(q23;q21). The morphological phenotype represented a monoblastic leukemia, AML French-American-British (FAB) M5a. Further analysis of the translocation revealed an involvement of the mixed-lineage leukemia (MLL) gene and a region closely proximal to the retinoic acid (RA) receptor alpha (RARA) gene. AMLs involving both a rearranged MLL and the 17q21 region, in which the RARA gene is located, have only been described in some individual cases. The functional role of this translocation is still unknown. Rearrangements of the MLL (11q23) gene in AML are usually related to the morphological phenotype FAB M5. In general, they are associated with an adverse prognosis. In acute promyelocytic leukemia, the translocation (15;17)(q22;q11-21) involving the RARA leads to a maturation arrest that can be overcome by RA, often inducing remission. In other forms of AML, however, the effects of RA are limited and diverse. To study whether RA might have a therapeutical potential in our case, we performed an in vitro analysis of RA effects on AML cells. We found that RA leads to enhanced cell death and up-regulation of CD38 and CD117. However, no hints of RA-induced in vitro differentiation were visible. Our data indicate that in AML cells bearing the t(11;17)(q23;q21), a differentiation arrest that is overcome by RA is not present. On the contrary, RA induces alterations in cellular regulation that are similar to the RA-induced changes observed in early hematogenic progenitors; thus, a possible therapeutical benefit of RA in such cases remains open.

Publication types

  • Case Reports

MeSH terms

  • ADP-ribosyl Cyclase 1 / biosynthesis
  • Antineoplastic Agents / pharmacology*
  • Antineoplastic Agents / therapeutic use
  • Cell Death / drug effects
  • Cell Death / genetics
  • Cell Differentiation / drug effects*
  • Cell Differentiation / genetics
  • Child
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Drug Screening Assays, Antitumor
  • Female
  • Gene Expression Regulation, Leukemic / drug effects
  • Gene Expression Regulation, Leukemic / genetics
  • Hematopoietic Stem Cells / metabolism
  • Hematopoietic Stem Cells / pathology
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / metabolism
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Proto-Oncogene Proteins c-kit / biosynthesis
  • Receptors, Retinoic Acid / genetics
  • Receptors, Retinoic Acid / metabolism
  • Receptors, Retinoic Acid / therapeutic use
  • Retinoic Acid Receptor alpha
  • Translocation, Genetic*
  • Tretinoin / pharmacology*
  • Tretinoin / therapeutic use
  • Tumor Cells, Cultured

Substances

  • Antineoplastic Agents
  • KMT2A protein, human
  • RARA protein, human
  • Receptors, Retinoic Acid
  • Retinoic Acid Receptor alpha
  • Myeloid-Lymphoid Leukemia Protein
  • Tretinoin
  • Histone-Lysine N-Methyltransferase
  • Proto-Oncogene Proteins c-kit
  • ADP-ribosyl Cyclase 1