A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene

Eur J Haematol. 2006 Oct;77(4):349-54. doi: 10.1111/j.1600-0609.2006.00723.x. Epub 2006 Jul 27.

Abstract

We describe here the first case of 8p11 myeloproliferative syndrome (EMS) with t(8;9)(p11;q33), who unusually demonstrated B-lymphoblastic/monoblastic biphenotypic transformation. A 57-year-old woman was admitted because of leukocytosis and diagnosed as EMS. Bone marrow was infiltrated with myeloperoxidase (MPO)-, CD10+, CD19+, CD20+, CD34+, HLA-DR+ small lymphoblasts and MPO+, CD2+, CD4+, CD13+, CD14+, CD33+, HLA-DR+ large monoblasts. The karyotype was 46,XX,t(8;9)(p11;q33)[20] and the CEP1/FGFR1 fusion transcript between CEP1 exon 38 and FGFR1 exon 9 was detected. This case clearly indicates that the blastic transformation in EMS with t(8;9) could arise in the stem cells, which differentiate into not only myelomonocytic but also B-lymphocytic lineages.

Publication types

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

MeSH terms

  • Base Sequence
  • Cell Cycle Proteins / genetics*
  • Chromosomes, Human, Pair 8*
  • DNA Primers
  • Female
  • Humans
  • Immunophenotyping
  • Karyotyping
  • Middle Aged
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / immunology
  • Polymerase Chain Reaction
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Transformation, Genetic*

Substances

  • CNTRL protein, human
  • Cell Cycle Proteins
  • DNA Primers
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1