Letter | Published:

Skin fibroblasts from a D-deletion type retinoblastoma patient are abnormally X-ray sensitive

Naturevolume 266pages726727 (1977) | Download Citation



RETINOBLASTOMA is a rare malignant eye tumour which appears spontaneously or occurs in genetically predisposed persons1–3. The latter group is composed of patients who inherit the tumour with a dominant mode of transmission (80–90% penetrance) (referred to as the familial type) or those who bear a deletion in the long arm of chromosome 13 (13q-) (referred to as the D-deletion type). When this deletion is present, it is observed in many somatic cells and is often associated with structural defects such as microcephaly, micropthalmia and several skeletal and genitourinary abnormalities3,4. Survivors of the genetic forms of retinoblastoma have an increased risk for the development of cancers at other sites, while patients who survive the sporadic type do not2–6. A single genetic locus is unlikely to predispose many somatic cells to tumour formation unless a fundamental molecular defect—for example, related to DNA repair—is present. To investigate this hypothesis, we have examined the in vitro X-ray sensitivity of skin fibroblast strains derived from three retinoblastoma patients—a pair of twins with the familial type accompanied by no gross chromosome abnormalities, and a patient with the D-deletion type. We also used two normal fibroblast strains and a strain from a patient with ataxia telangiectasia. We found that the strain derived from the D-deletion retinoblastoma patient was significantly more radiosensitive than the two normal strains, but not as sensitive as that from the ataxia patient.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

    Knudson, A. G. Proc. natn. Acad. Sci. U.S.A. 68, 820–823 (1971).

  2. 2

    Lancet ii, 1016–1017 (1971).

  3. 3

    Knudson, A. G., Meadows, A. T., Nichols, W. W. & Hill, R. New Engl. J. Med. 295, 1120–1123 (1976).

  4. 4

    Francke, U. Cytogenet. Cell Genet. 16, 131–134 (1976).

  5. 5

    Strong, L. C. & Knudson, A. G. Lancet ii, 1086 (1973).

  6. 6

    Jensen, R. D. & Miller, R. W. New Engl. J. Med. 285, 307–311 (1971).

  7. 7

    Taylor, A. M. R. et al. Nature 258, 427–429 (1975).

  8. 8

    Paterson, M. C., Smith, B. P., Lohman, P. H. M., Anderson, A. K. & Fishman, L. Nature 260, 444–447 (1976).

  9. 9

    Weichselbaum, R., Epstein, J. & Little, J. B. Radiology 121, 479–482 (1976).

  10. 10

    Cleaver, J. Nature 218, 652–656 (1968).

Download references

Author information


  1. Laboratory of Radiobiology, Department of Physiology, School of Public Health, Harvard University and Joint Center for Radiation Therapy, Harvard Medical School, Boston, Massachusetts, 02115

    • , JOHN NOVE
    •  & JOHN B. LITTLE


  1. Search for RALPH R. WEICHSELBAUM in:

  2. Search for JOHN NOVE in:

  3. Search for JOHN B. LITTLE in:

About this article

Publication history



Issue Date



Further reading


By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.