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This neoplasm is not reportable.
Name
Ataxia-telangiectasia
Reportability
This neoplasm is not reportable
Abstractor Notes
Ataxia-telangiectasia is part of the Genetic tumour syndromes associated with hematolymphoid tumours table in the WHO 5th edition of Hematolymphoid Tumors. (See Appendix B in the Hematopoietic Manual, Table B22)
AT is a pleiotropic disorder with multiple manifestations, including immunodeficiency, neurological deficits, and an increased propensity for the development of cancer.
AT is a pleiotropic disorder with multiple manifestations, including immunodeficiency, neurological deficits, and an increased propensity for the development of cancer.
Definition
Ataxia–telangiectasia (AT) is a rare autosomal recessive disease caused by germline variants in ATM leading to disease affecting multiple systems, which may manifest in infancy or early childhood. Characteristic disease manifestations include cerebellar degeneration with progressive ataxia, oculocutaneous telangiectasia, immunodeficiency, susceptibility to bronchopulmonary disease, and lymphoid tumours.
Sources
WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. (WHO classification of tumours series, 5th ed.; vol. 11). https://publications.iarc.who.int/637.
