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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
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.
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.
- 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.