Hematologic and clinical features of patients with chromosome 5 monosomy or deletion (5q)

E. Brusamolino, E. Orlandi, E. Morra, P. Bernasconi, G. Pagnucco, A. Colombo, M. Lazzarino, C. Bernasconi

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This paper analyzes the hematologic features and outcome of 13 patients with chromosome 5 abnormalities (monosomy 5 or deletion of 5q), either isolated or with additional anomalies. Among four patients with isolated del (5q), two had a stable refractory macrocytic anemia with thrombocytosis (5q-syndrome). All nine patients with complex karyotypes had acute leukemia or refractory anemia with excess of blasts in acute transformation; two cases were TdT-positive, with a lymphoid or a mixed phenotype. In seven patients, preleukemia preceded overt leukemia, and in six, a prior therapeutic, or occupational exposure to mutagens/carcinogens had occurred. Additional chromosome 7 abnormalities were seen in four cases. The median survival of patients with complex karyotypes was 19 months from the time of diagnosis of the hematologic disorder and 5 months from the time of identification of the chromosome 5 abnormality. Pathogenetic implications of the chromosome 5 monosomy or del (5q) through a proto-oncogene activation and the putative hemopoietic stem cell involvement in a clonal disease are discussed.

Original languageEnglish
Pages (from-to)88-94
Number of pages7
JournalMedical and Pediatric Oncology
Issue number2
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Cancer Research
  • Oncology
  • Pediatrics, Perinatology, and Child Health


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