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Ataxia Telangiectasia: Neoplasia, Untoward Response to X -Irradiation, and Tuberous Sclerosis
Abstract
ATAXIA telangiectasia is an inherited disorder characterized by progressive cerebellar ataxia and oculocutaneous telangiectasia.1-3Generally these patients have recurrent sinopulmonary infections, and defects in cellular immunity and in the immunoglobulin system have been recently documented.4-9An unusual propensity for the development of neoplasia has become apparent.2-4,10-14In previous cases the neoplasms have been discovered close to or at the time of death, obviating therapy. Since this is apparently the first instance in which a patient with ataxia telangiectasia has been treated for a lymphosarcoma, we wish to call attention to the severe untoward effect of a partial therapeutic dose of x-irradiation. In addition, we found typical lesions of tuberous sclerosis in the brain and unusual hypertrophic cells in the renal tubules. These findings, associated with the development of a lymphosarcoma, suggest a generalized disturbance in the metabolic control of many cell types. Report of a Case A
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Cited by
Stewart, F. A., Akleyev, A. V., Hauer-Jensen, M., Hendry, J. H., Kleiman, N. J., MacVittie, T. J., Aleman, B. M., Edgar, A. B., Mabuchi, K., Muirhead, C. R., et al. (2012) · Annals of the ICRP · doi:10.1016/j.icrp.2012.02.001 · Cited by 1,604
Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity
TAYLOR, A. M. R., HARNDEN, D. G., ARLETT, C. F., HARCOURT, S. A., LEHMANN, A. R., STEVENS, S., & BRIDGES, B. A. (1975) · Nature · doi:10.1038/258427a0 · Cited by 990
Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia
Swift, M., Morrell, D., Massey, R. B., & Chase, C. L. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112263252602 · Cited by 939
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
Lavin, M. F. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2514 · Cited by 901
Occurrence of malignancy in immunodeficiency diseases: A literature review
Gatti, R. A., & Good, R. A. (1971) · Cancer · doi:10.1002/1097-0142(197107)28:1<89::aid-cncr2820280117>3.0.co;2-q · Cited by 632
Metadata
- Authors
- Gotoff, S. P.
- Venue
- American Journal of Diseases of Children
- Publisher
- American Medical Association (AMA)
- Published
- 1967-12-01
- Volume
- 114
- Issue
- 6
- Pages
- 617
- ISSN
- 0002-922X (ISSN-L)
- OpenAlex
- W2036911210
- Cited by
- 265
- References
- 0
- FWCI
- 1.87
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Ataxia Telangiectasia: Neoplasia, Untoward Response to X -Irradiation, and Tuberous Sclerosis. https://app.cochat.ai/papers/10.1001/archpedi.1967.02090270073006
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- Gotoff, S. P. (1967). Ataxia Telangiectasia: Neoplasia, Untoward Response to X -Irradiation, and Tuberous Sclerosis. American Journal of Diseases of Children. https://doi.org/10.1001/archpedi.1967.02090270073006
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
