Trisomy 1q in a patient with severe aplastic anemia

Cancer Genet Cytogenet. 2006 Aug;169(1):73-5. doi: 10.1016/j.cancergencyto.2006.03.014.

Abstract

Aplastic anemia is a rare, serious disease characterized by hypocellular bone marrow and pancytopenia in the peripheral blood. Most cases are acquired, idiopathic, and without gross cytogenetic abnormalities. A few chromosome abnormalities have recurred among a small subset of patients, most commonly trisomy 8 and monosomy 7. Some of these chromosome abnormalities have prognostic and therapeutic significance, although for most the clinical relevance is not known. We present the case of a 40-year-old man with idiopathic severe aplastic anemia in bone marrow cells with trisomy of the whole long arm of chromosome 1 due to an unbalanced translocation between chromosomes 1 and 15 at breakpoints of q10 and 15q10. This clonal abnormality (which, to our knowledge, has not been previously reported in a patient with aplastic anemia) suggests that genes on 1q may be involved in marrow aplasia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Aplastic / genetics*
  • Chromosomes, Human, Pair 1*
  • Female
  • Humans
  • Karyotyping
  • Trisomy*