Abnormalities of chromosome 18 in myelodysplastic syndromes and secondary leukemia

R Berger1, M Le Coniat, J Derré

  • 1Unité INSERM U 301, Institut de Génétique Moléculaire, Paris, France.

Insights

Monosomy 18 and 18q deletions are common in myelodysplastic syndromes (MDS) and secondary acute myeloblastic leukemia (sAML). These chromosome 18 abnormalities were compared to de novo acute myeloid leukemia (AML) in a study of six patients.

Area of Science:

  • Cytogenetics
  • Hematology
  • Oncology

Background:

  • Monosomy 18 and partial deletion of 18q are recurrent chromosomal abnormalities.
  • These abnormalities are frequently observed in myelodysplastic syndromes (MDS) and secondary acute myeloblastic leukemia (sAML).

Purpose of the Study:

  • To investigate the occurrence of chromosome 18 abnormalities in patients with MDS and sAML.
  • To compare the frequency of these abnormalities in MDS and sAML with de novo acute myeloid leukemia (AML).

Main Methods:

  • Analysis of cytogenetic data from six patients diagnosed with MDS and sAML.
  • Comparative analysis of chromosome 18 abnormalities between MDS/sAML cohorts and de novo AML cases.

Main Results:

  • The study identified nonrandom occurrences of monosomy 18 and 18q deletions in the studied MDS and sAML patients.
  • Complex chromosomal abnormalities involving chromosome 18 were a consistent finding in these patients.

Conclusions:

  • Monosomy 18 and 18q deletions are significant nonrandom events in the pathogenesis of MDS and sAML.
  • Understanding these chromosomal abnormalities is crucial for diagnosing and potentially treating these hematologic malignancies.

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