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Trisomy 21 in neoplastic cells.

F Mitelman1, S Heim, N Mandahl

  • 1Department of Clinical Genetics, University of Lund, Sweden.

American Journal of Medical Genetics. Supplement
|January 1, 1990
PubMed
Summary
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Trisomy 21, or Down syndrome, is an acquired chromosome change in neoplasms, most often in hematologic disorders like leukemia and lymphomas. In individuals with Down syndrome, leukemia risk is higher, and acquired karyotypic changes resemble those in the general population.

Area of Science:

  • Cytogenetics
  • Oncology
  • Human Genetics

Background:

  • Trisomy 21 is a known chromosome abnormality.
  • Its occurrence in neoplasms is documented in cytogenetic literature.
  • Hematologic malignancies and lymphomas are frequently associated with trisomy 21.

Purpose of the Study:

  • To analyze the incidence and patterns of trisomy 21 in human neoplasms.
  • To compare karyotypic changes in leukemias associated with constitutional trisomy 21 (Down syndrome) versus acquired trisomy 21.

Main Methods:

  • Review of cytogenetic literature on human neoplasms with chromosome aberrations.
  • Analysis of cases with acquired trisomy 21.
  • Examination of tumor cell karyotypes in patients with constitutional trisomy 21 and malignancy.

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Main Results:

  • Trisomy 21 was found in 642/10,625 neoplasms, predominantly hematologic disorders (92%).
  • Incidence varied by leukemia type, highest in acute lymphocytic leukemia (14.8%).
  • In Down syndrome, leukemia risk is elevated, with similar superimposed karyotypic changes to non-DS patients.

Conclusions:

  • Acquired trisomy 21 is a recurrent finding in hematologic malignancies.
  • The pattern of additional karyotypic changes in leukemia is similar in individuals with and without Down syndrome.
  • Trisomy 21 is rarely the sole anomaly and not reported in solid tumors.