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Related Experiment Videos

A tumor profile in Down syndrome

D Satgé1, D Sommelet, A Geneix

  • 1Laboratoire d'Anatomie Pathologique, Centre Hospitalier, Tulle, France.

American Journal of Medical Genetics
|July 24, 1998
PubMed
Summary

Individuals with Down syndrome (DS) have a unique cancer profile, with increased leukemias and lymphomas but decreased solid tumors. This suggests specific genetic factors influence cancer development in DS.

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Area of Science:

  • Oncology
  • Genetics
  • Pediatrics

Background:

  • Down syndrome (DS) is associated with a complex relationship with cancer.
  • Solid tumors in DS are not well understood, despite an increased incidence of certain neoplasms.

Purpose of the Study:

  • To review the spectrum of cancers in individuals with Down syndrome.
  • To identify specific tumor types that are either increased or decreased in DS compared to the general population.

Main Methods:

  • Literature review of cancers in Down syndrome.
  • Comparative analysis of cancer incidence in DS versus the general population.

Main Results:

  • DS exhibits a 20-fold excess of leukemias and an increased incidence of lymphomas, germ cell tumors, retinoblastomas, pancreatic, and bone tumors.

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  • Malignant solid tumors are generally underrepresented, with notable decreases in neuroblastomas, nephroblastomas, and common epithelial tumors.
  • Neoplasms in excess often present earlier in life, affect males predominantly, and may be linked to rare karyotypes.

    • Conclusions:

    • Down syndrome presents a distinct tumor profile, with heightened susceptibility in hematopoietic and germ cells, and potential protection in nervous, renal, and epithelial tissues.
    • The observed patterns suggest a significant genetic influence, potentially related to genes on chromosome 21, though environmental factors may also play a role.
    • Understanding this unique cancer profile is crucial for patient management, early cancer detection, and advancing research into carcinogenesis mechanisms.