Why Don’t Germline Mutations in RB1 Predispose to Leukemia?

  • R. A. Phillips
  • R. M. Gill
  • E. Zacksenhaus
  • R. Bremner
  • Z. Jiang
  • M. Sopta
  • B. L. Gallie
  • P. A. Hamel
Part of the Current Topics in Microbiology and Immunology book series (CT MICROBIOLOGY, volume 182)


Retinoblastoma, a rare tumor of childhood, is interesting because it exists in both heritable and non-heritable forms (for review see [1]). In the non-heritable form, affected individuals develop only a single tumor in one eye. In contrast, in the heritable form, the affected individuals develop multiple tumors usually affecting both eyes. Heritable retinoblastoma has high penetrance with more than 90% of individuals carrying a germline mutation in the retinoblastoma gene (RB1) on chromosome 13 ultimately developing tumors. In addition, patients with a germline RB1 mutation are susceptible to multiple other tumors, primarily osteosarcoma, fibrosarcoma, melanoma, small cell carcinoma of the lung and bladder carcinoma [2, 31. However, such individuals appear not to have an increased risk for leukemias or other malignancies of the hematopoietic system [4].


Germline Mutation Retinoblastoma Protein Retinoblastoma Gene Normal Hematopoietic Cell Leukemic Sample 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • R. A. Phillips
    • 1
    • 4
    • 5
  • R. M. Gill
    • 1
    • 5
  • E. Zacksenhaus
    • 5
  • R. Bremner
    • 5
  • Z. Jiang
    • 5
  • M. Sopta
    • 5
  • B. L. Gallie
    • 1
    • 3
    • 5
  • P. A. Hamel
    • 2
  1. 1.Departments of Medical GeneticsTorontoCanada
  2. 2.Departments of PathologyTorontoCanada
  3. 3.Departments of OphthalmologyTorontoCanada
  4. 4.Departments of lmmunologyUniversity of TorontoTorontoCanada
  5. 5.Division of Immunology and Cancer ResearchThe Hospital for Sick ChildrenTorontoCanada

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