Chromosome 21 rearrangement in acute biphenotypic leukemia

Cancer Genet Cytogenet. 1992 Nov;64(1):56-9. doi: 10.1016/0165-4608(92)90323-z.

Abstract

A patient with myelodysplastic syndrome (MDS) and a 47,XY,+21 karyotype at diagnosis, was documented to have a clonal chromosome 21 rearrangement, i(21q), four months before transformation to acute biphenotypic leukemia. For 4 months after transformation, isochromosome 21 persisted while the patient was receiving treatment with zidovudine. Vitamin D3 was added to zidovudine for an additional month, during which time the trisomy 21 clone reappeared as the predominant cell population. The unique aspects of this patient are the atypical evolution of chromosome 21, the transformation to biphenotypic leukemia, and the occurrence of i(21q) associated with biphenotypic leukemia evolving from an MDS.

MeSH terms

  • Anemia, Refractory, with Excess of Blasts / complications
  • Anemia, Refractory, with Excess of Blasts / drug therapy
  • Anemia, Refractory, with Excess of Blasts / genetics
  • Antigens, CD / analysis
  • Antigens, Differentiation, Myelomonocytic / analysis
  • CD13 Antigens
  • Cell Transformation, Neoplastic
  • Cholecalciferol / therapeutic use
  • Chromosomes, Human, Pair 21*
  • Gene Expression Regulation, Leukemic
  • Gene Rearrangement*
  • Humans
  • Immunophenotyping
  • Leukemia, Myeloid, Acute / etiology
  • Leukemia, Myeloid, Acute / genetics*
  • Receptors, Interleukin-2 / analysis
  • Trisomy*
  • Zidovudine / therapeutic use

Substances

  • Antigens, CD
  • Antigens, Differentiation, Myelomonocytic
  • Receptors, Interleukin-2
  • Cholecalciferol
  • Zidovudine
  • CD13 Antigens