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Cytogenetics in chronic lymphocytic leukemia

G Juliusson1, M Merup

  • 1Department of Hematology, University Hospital, Linköping, Sweden.

Seminars in Oncology
|March 3, 1998
PubMed
Summary

Chromosomal abnormalities, including trisomy 12 and 13q deletions, are common in chronic lymphocytic leukemia (CLL). Trisomy 12 indicates poor prognosis, while 13q deletions suggest a good outcome for CLL patients.

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Area of Science:

  • Hematology
  • Cytogenetics
  • Oncology

Background:

  • Clonal chromosomal abnormalities are present in nearly half of chronic lymphocytic leukemia (CLL) patients.
  • Commonly detected aberrations include trisomy 12 and deletions on chromosome 13q14.3.

Purpose of the Study:

  • To investigate the prevalence and significance of chromosomal abnormalities in CLL.
  • To correlate specific cytogenetic findings with clinical outcomes in CLL patients.

Main Methods:

  • Cytogenetic analysis of metaphase cells with B-cell mitogen stimulation.
  • Molecular techniques including fluorescence in situ hybridization (FISH) on metaphase and interphase cells.

Main Results:

  • Trisomy 12 is found in one-third of CLL patients with clonal aberrations, often affecting about half of the cells.
  • The most frequent structural abnormality is 13q14.3 deletion, present in about 40% of tested samples.
  • Trisomy 12 correlates with atypical morphology and poor survival, while 13q-abnormalities are associated with a good prognosis.

Conclusions:

  • Specific chromosomal abnormalities in CLL have distinct prognostic implications.
  • Trisomy 12 is an adverse prognostic marker, whereas 13q deletions indicate a favorable prognosis in CLL.

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