Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 20 July 2013, last major update July 2013
Copyright: (c) 2002-2013, PathologyOutlines.com, Inc.
- Rare neurodegenerative disorder due to mutation of protein
- Characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency
- Also increased risk of malignancy because cells are particularly radiosensitive; increased risk is due to changes occuring in germline cells and as somatic changes in tumors themselves (Oncogene 2013 Jul 15 [Epub ahead of print])
ATM controls cellular survival in response to DNA damage through multiple pathways
Selected summary of the ATM signaling network
Uses by pathologists
Prostate: ATM expression in hyperplastic glands of transitional zone
Prostate: adenocarcinoma with low ATM staining
Prostate: adenocarcinoma with normal ATM expression
Prostate: adenocarcinoma with high ATM staining.
- Loss of 11q21-q22 (ATM) found in nodal, splenic marginal zone and lymphoplasmacytic lymphoma (Mod Pathol 2012;25:651)
End of Stains > ATM
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