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Germline mutations including the rare pathogenic variant c.3206delC in the ATM gene cause ataxia teleangiectasia-associated primary central nervous system lymphoma

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Item Type:Article
Title:Germline mutations including the rare pathogenic variant c.3206delC in the ATM gene cause ataxia teleangiectasia-associated primary central nervous system lymphoma
Creators Name:Dörr, J.R., Thorwarth, A., Mizia-Malarz, A., Radke, J., Tietze, A., Hernáiz-Driever, P., Horn, D., Gratopp, A., Eggert, A. and Deubzer, H.E.
Abstract:We here report the case of a 2-year-old patient with a primary central nervous system lymphoma of B-cell origin. Due to their past medical history of repeated respiratory tract infections and the marked chemotherapy-associated toxicity and infectious comorbidity, we suspected that the patient also suffered from an inherited immune deficiency disorder. Despite the lack of classical pathognomonic symptoms for ataxia teleangiectasia and missing evidence for a cancer predisposition syndrome in the family, genetic testing identified biallelic germline mutations, including the rare pathogenic variant c.3206delC (p.Pro1069Leufs*2), in the ataxia telangiectasia-mutated (ATM) gene. The case highlights the importance of searching for immune deficiency disorders associated with primary central nervous system lymphoma before treatment initiation and the urgent need to develop novel treatment strategies for cancer patients with underlying immunodeficiency syndromes.
Keywords:Cancer, Cancer Predisposition, Immune Deficiency Disorder, Multiresistant Bacteria, Chemotherapy Tolerance
Source:Children
ISSN:2227-9067
Publisher:MDPI
Volume:8
Number:6
Page Range:469
Date:June 2021
Official Publication:https://doi.org/10.3390/children8060469
PubMed:View item in PubMed

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