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5q-, twenty-five years later: a synopsis

H Van den Berghe1, L Michaux

  • 1Center for Human Genetics, University of Leuven, Belgium.

Cancer Genetics and Cytogenetics
|March 1, 1997
PubMed
Summary

Deletions of chromosome 5 long arm (del(5q)) are common in myelodysplastic syndromes and acute myelogenous leukemia. The 5q- syndrome, a distinct entity, shows a female predominance and low leukemic transformation risk.

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Area of Science:

  • Cytogenetics
  • Hematology
  • Molecular Biology

Background:

  • The del(5q) chromosomal anomaly has been recognized for over 25 years.
  • It is frequently observed in various hematologic malignancies, particularly myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML).
  • del(5q) is the most prevalent chromosomal abnormality in therapy-induced MDS/AML.

Purpose of the Study:

  • To review the spectrum of hematologic disorders associated with del(5q).
  • To characterize the distinct 5q- syndrome.
  • To discuss the molecular underpinnings of del(5q) in myeloid disorders.

Main Methods:

  • Review of clinical and cytogenetic data from patients with del(5q).
  • Analysis of disease characteristics, including sex predominance and leukemic transformation.
  • Preliminary investigation into molecular lesions within the critical 5q31 region.

Main Results:

  • del(5q) is associated with both myeloid and lymphoid disorders.
  • The 5q- syndrome, characterized by del(5q) as the sole anomaly, predominantly affects females, with a low risk of leukemic transformation and longer survival.
  • Lymphoid disorders with del(5q), including acute lymphoblastic leukemia (B and T types), show a male predominance.
  • Molecular studies suggest a critical region at 5q31, with heterogeneous gene inactivation.

Conclusions:

  • del(5q) is a significant cytogenetic marker in hematologic disorders.
  • The 5q- syndrome represents a distinct clinical entity with a favorable prognosis.
  • Further molecular investigations are needed to elucidate the pathogenesis of del(5q) myeloid disorders.

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