Clinical, haematological and cytogenetic features in 24 patients with structural rearrangements of the Q arm of chromosome 3

Br J Haematol. 1993 Jan;83(1):158-65. doi: 10.1111/j.1365-2141.1993.tb04647.x.

Abstract

To determine the frequency and clinical significance of acquired abnormalities of chromosome 3 at q21 and q25-26 in haematological malignancy, we reviewed the haematological and cytogenetic features of 24 patients with a 3q rearrangement identified amongst 1200 cases with clonal cytogenetic abnormalities detected at our institutions during a 12-year period. Thirteen patients presented with de novo acute myeloid leukaemia (AML), 10 with myelodysplasia (MDS) and one in blast phase of chronic myelogenous leukaemia. Twenty patients (83%) had megakaryocytic dysplasia and 14 (58%) had normal or increased numbers of megakaryocytes, but only four patients (16%) had absolute thrombocytosis > 500 x 10(9)/l (three with AML, one with MDS transforming to AML). A review of 205 cases of AML investigated in our institutions between 1985 and 1990 for whom cytogenetic results were obtained revealed that a platelet count > 500 x 10(9)/l at presentation was highly suggestive of an underlying 3q abnormality. A limited review of the literature on this subject confirmed that 15-20% of patients with a 3q abnormality will have thrombocytosis. The response of these patients to conventional antileukaemic therapy is uniformly poor, despite haematological and clinical differences between the subtypes of 3q rearrangements.

MeSH terms

  • Acute Disease
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Bone Marrow / pathology
  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 3*
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / pathology
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology