scholarly journals Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the ATM Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 469
Author(s):  
Jan R. Dörr ◽  
Anne Thorwarth ◽  
Agnieszka Mizia-Malarz ◽  
Josefine Radke ◽  
Anna Tietze ◽  
...  

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.

2020 ◽  
Author(s):  
Jingjing Li ◽  
Ming Xue ◽  
Shuo Yan ◽  
Chunshuang Guan ◽  
Ruming Xie ◽  
...  

Abstract Background: Patients with acquired immune deficiency syndrome (AIDS) often suffer from opportunistic infections and related primary central nervous system lymphoma (AR-PCNSL). Both diseases showed multiple ring enhancement lesions in conventional magnetic resonance (MR). It is very difficult to make the differential diagnosis. We aimed to investigate whether multimodal MR (diffusion weighted imaging (DWI)/ apparent diffusion coefficient (ADC), 3D pseudo-continuous arterial spin labeling (3D-pCASL) and susceptibility-weighted imaging (SWI)) combined with conventional MR can differentiate AR-PCNSL from infection. Methods: This was a prospective study. We recruited 19 AIDS patients who were divided into AR-PCNSL group (9 cases) and infection group (10 cases) by pathological results. We analyzed whether there was statistical (Fisher’s method) difference in multimodal MR between the two groups. We analyzed whether multimodal MR combined with conventional MR could improve the diagnosis of AR-PCNSL. Results: The lesions were more likely involved the paraventricular (0.020) and corpus callosum (0.033) in AR-PCNSL group in conventional MR. In multimodal MR, AR-PCNSL group showed low ADC value, with p values of 0.001. Infection group more inclined to high ADC value, with p was 0.003. In multimodal MR, AR-PCNSL group had more low signal intensity(grade 2-3) in the degree of intratumoral susceptibility signal intensity in SWI(SWI-ITSS) ,with p values of 0.001. The sensitivity, specificity of conventional MR in the diagnosis of AR-PCNSL was 88.9%, and 70.0%. The conventional MR sequence combined with DWI/ADC sequence in the diagnosis of AR-PCNSL had a sensitivity of 100.0%, and a specificity of 60.0%. The sensitivity and specificity of the conventional MR sequence combined with the SWI-ITSS sequence in the diagnosis of AR-PCNSL were 100% and 70.0%. The conventional MR combined with ADC or SWI-ITSS improved the diagnosis of AR-PCNSL. Conclusion: Multimodal MR could help distinguish AR-PCNSL from infectious lesions. The multimodal MR (DWI/ADC or SWI-ITSS) combined with conventional MR could improve the diagnosis of AR-PCNSL. The ADC value should be attached importance in clinical work.When distinguishing AR-PCNSL from toxoplasmosis or tuberculoma, SWI should be used to obtain a correct diagnosis.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jingjing Li ◽  
Ming Xue ◽  
Shuo Yan ◽  
Chunshuang Guan ◽  
Ruming Xie ◽  
...  

Abstract Background Patients with acquired immune deficiency syndrome (AIDS) often suffer from opportunistic infections and related primary central nervous system lymphoma (AR-PCNSL). Both diseases showed multiple ring enhancement lesions in conventional magnetic resonance (MR). It is very difficult to make the differential diagnosis. We aimed to investigate whether multimodal MR (diffusion weighted imaging (DWI)/ apparent diffusion coefficient (ADC), 3D pseudo-continuous arterial spin labeling (3D-pCASL) and susceptibility-weighted imaging (SWI)) combined with conventional MR can differentiate AR-PCNSL from infections. Methods This was a prospective study. We recruited 19 AIDS patients who were divided into AR-PCNSL group (9 cases) and infection group (10 cases) by pathological results. We analyzed whether there was statistical (Fisher’s method) difference in multimodal MR between the two groups. We analyzed whether multimodal MR combined with conventional MR could improve the diagnosis of AR-PCNSL. Results The lesions were more likely involved the paraventricular (0.020) and corpus callosum (0.033) in AR-PCNSL group in conventional MR. In multimodal MR, AR-PCNSL group showed low ADC value, with p values of 0.001. Infection group more inclined to high ADC value, with p was 0.003. In multimodal MR, AR-PCNSL group had more low signal intensity (grade 2–3) in the degree of intratumoral susceptibility signal intensity in SWI (SWI-ITSS), with p values of 0.001. The sensitivity, specificity of conventional MR in the diagnosis of AR-PCNSL was 88.9 and 70.0%. The conventional MR sequence combined with DWI/ADC sequence in the diagnosis of AR-PCNSL had a sensitivity of 100.0%, and a specificity of 60.0%. The sensitivity and specificity of the conventional MR sequence combined with the SWI-ITSS sequence in the diagnosis of AR-PCNSL were 100 and 70.0%. The conventional MR combined with ADC or SWI-ITSS improved the diagnosis of AR-PCNSL. Conclusion Multimodal MR could distinguish AR-PCNSL from infectious lesions. The multimodal MR (DWI/ADC or SWI-ITSS) combined with conventional MR could improve the diagnosis of AR-PCNSL. The ADC value should be attached importance in clinical work. When distinguishing AR-PCNSL from toxoplasmosis or tuberculoma, SWI should be used to obtain a correct diagnosis.


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