Cytogenetic studies in 174 consecutive patients with preleukemic or myelodysplastic syndromes

Mayo Clin Proc. 1985 Aug;60(8):507-16. doi: 10.1016/s0025-6196(12)60566-7.

Abstract

Routine cytogenetic studies were done in 174 consecutive patients with preleukemic or myelodysplastic syndromes (PL/MDS): 5 had the 5q - syndrome, 2 had refractory cytopenia, 43 had refractory anemia, 38 had refractory anemia with ringed sideroblasts, 69 had refractory anemia with excess blasts, 6 had refractory anemia with excess blasts in transition, and 11 had chronic myelomonocytic leukemia. Successful chromosome studies were accomplished in 167 patients (96%); 64 (37%) had a chromosomally abnormal clone. Abnormal clones were most common among patients who had refractory anemia with excess blasts (45%), refractory anemia with excess blasts in transition (60%), and chronic myelomonocytic leukemia (45%); they were least common among patients with refractory anemia (32%) and refractory anemia with ringed sideroblasts (21%). The two patients with refractory cytopenia had normal cytogenetic results. Each patient with the 5q - syndrome had a 5q-chromosome, as this is a prerequisite for the diagnosis. The two most common structural abnormalities were deletion of part of a chromosome 5 long arm (17 patients) and deletion of part of a chromosome 20 long arm (8 patients). Nonspecific structural abnormalities of chromosomes 1, 3, 6, and 17 were also common. The most common numeric abnormalities were monosomy 5 (7 patients), monosomy 7 (4 patients), loss of the Y chromosome (9 patients), and trisomy 8 (20 patients). No chromosome abnormalities were specifically associated with any PL/MDS classification.

MeSH terms

  • Adult
  • Aged
  • Anemia, Aplastic / etiology
  • Bone Marrow Diseases / complications
  • Bone Marrow Diseases / genetics*
  • Chromosome Aberrations / genetics
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, 19-20
  • Chromosomes, Human, 4-5
  • Chromosomes, Human, 6-12 and X
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid / genetics
  • Male
  • Middle Aged
  • Monosomy
  • Preleukemia / complications
  • Preleukemia / genetics*
  • Sex Chromosome Aberrations / genetics
  • Trisomy
  • Y Chromosome