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)

Abstract

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].

Keywords

Leukemia Retina Serine Osteosarcoma Threonine 

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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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