Vanishing brain lesions in a patient with vision loss and ataxia: A case of CNS lymphoma with corticosteroid related regression

Abstract Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an adult-onset rare monogenic microvasculopathy. Its typical neuroimaging features are punctate white matter lesions or pseudotumor alterations. RVCL-S is often under-recognized and misdiagnosed because of its rarity and similar imaging manifestations to multiple sclerosis or brain malignant mass. Case presentation Here we report a case of a 36-year-old Chinese man who developed multiple tumefactive brain lesions spanning over two years leading to motor aphasia, cognitive decline, and limb weakness. He also presented with slight vision loss, and fundus fluorescein angiography indicated retinal vasculopathy. He underwent brain biopsies twice and showed no evidence of malignancy. Given the family history that his father died of a brain mass of unclear etiology, RVCL-S was suspected, and genetic analysis confirmed the diagnosis with a heterozygous insertion mutation in the three-prime repair exonuclease 1 gene. He was given courses of corticosteroids and cyclophosphamide but received little response. Conclusions The present case is one of the few published reports of RVCL-S with two-year detailed imaging data. Serial magnetic resonance images showed the progression pattern of the lesions. Our experience emphasizes that a better understanding of RVCL-S and considering it as a differential diagnosis in patients with tumefactive brain lesions may help avoid unnecessary invasive examinations and make an earlier diagnosis.

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FDG-PET versus Thallium-201 SPECT in the evaluation of putative CNS lymphoma in AIDS patients

Journal of Clinical Oncology ◽

10.1200/jco.2006.24.18_suppl.1537 ◽

2006 ◽

Vol 24 (18_suppl) ◽

pp. 1537-1537

Author(s):

E. Vidan ◽

L. Kostakoglu ◽

M. Coleman ◽

D. Jillapalli ◽

S. M. Philips ◽

...

Keyword(s):

Pet Imaging ◽

False Positive ◽

Fdg Pet ◽

Brain Lesions ◽

Cns Lymphoma ◽

True Positive ◽

Aids Patients ◽

Predictive Values ◽

Positive Results ◽

Cns Lesions

1537 Background: The evaluation of CNS lesions in AIDS patients is challenging as both CNS lymphoma and non-neoplastic lesions can have similar clinical presentations and imaging findings. Both Tl-201 SPECT and FDG PET imaging have been used to differentiate malignancy from infection. This study investigates the accuracy of FDG PET compared to Tl-201 SPECT in the diagnosis of CNS lymphoma in patients with AIDS-associated CNS lesions. Methods: Nine patients with AIDS who were found to have rim enhancing brain lesions on MRI underwent both Tl-201 SPECT and FDG PET imaging prior to diagnosis. Diagnosis was made by stereotactic brain biopsy in 6 pts and clinical follow-up in the remaining 3. FDG PET of the brain was performed using a dedicated PET/CT instrument (GE Discovery) 1 hour after 444 MBq FDG. Brain SPECT was performed on a dual head gamma camera (GE Hawkeye) with 185 MBq Tl-201. Images were reviewed along with MRI for anatomic correlation by 2 experienced nuclear medicine physicians blinded to the diagnosis. Results: 43 MRI lesions in 9 patients were evaluated. Clinically, 5 pts (18 lesions) were diagnosed with lymphoma (4 biopsy proven, 1 with known history of lymphoma), and 4 pts (25 lesions) were diagnosed with toxoplasmosis (2 with negative biopsies for malignancy, 2 with clinical course consistent with toxoplasmosis). FDG PET had true positive results for lymphoma in 5 of 5 pts, while Tl-201 SPECT was true positive in only 2 of 5. FDG PET had true negative results in 4 of 4 pts with toxoplasmosis, while Tl-201 had false positive results in 2 of 4. FDG PET had positive and negative predictive values of 100%, while Tl-201 SPECT had PPV 50% and NPV 40%. On a lesion basis, PET showed increased uptake of FDG in 8 of 18 brain lesions in patients with lymphoma, while SPECT showed increased uptake of Tl-201 in 4 of 18 lesions. Tl-201 was positive in 2 lesions in patients diagnosed with toxoplasmosis, while FDG had no false positive lesions. Conclusion: In this limited study, FDG PET proved to be superior to Tl-201 SPECT in the differentiation of CNS lymphoma from toxoplasmosis (overall accuracy 100% vs 44%, respectively). With the increasing availability of FDG PET, this test should probably supplant Tl-201 SPECT as the study of choice following conventional imaging (CT, MRI) of CNS lesions in AIDS patients. No significant financial relationships to disclose.

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An Unusual Case of EBV-Negative Primary CNS Lymphoma of Natural Killer/T-Cell Lineage

Clinical Pathology ◽

10.1177/2632010x211065692 ◽

2021 ◽

Vol 14 ◽

pp. 2632010X2110656

Author(s):

Naim I Kajtazi ◽

Mohammed Bafaquh ◽

Juman Al Ghamdi ◽

Zahra AlEissa ◽

Arwa Al Shmeikh ◽

...

Keyword(s):

T Cell ◽

Nk Cell ◽

Cell Lymphoma ◽

Cell Lineage ◽

Primary Cns Lymphoma ◽

Brain Magnetic Resonance Imaging ◽

Brain Lesions ◽

T Cell Lymphoma ◽

Cns Lymphoma ◽

Upper Aerodigestive Tract

Extranodal NK/T-cell lymphoma (ENKTL) is a well-defined cytotoxic lymphoma strongly associated with Epstein–Barr virus (EBV) infection, commonly affecting the nasopharynx and upper aerodigestive tract. Primary central nervous system (CNS) involvement is rare, and only 17 cases were previously reported in the literature. Here, we report the case of a 44-year-old male admitted with a 3-month history of personality changes and progressive right leg weakness. Brain magnetic resonance imaging studies (MRIs) revealed multiple rim-enhancing brain lesions bilaterally. An extensive clinical and laboratory workup was unrevealing, and 2 brain biopsies were initially considered inconclusive. Pertinently, no systemic lymphoproliferative disorder was identified. The patient initially experienced remarkable clinical improvement with dexamethasone, pulse methylprednisolone, and rituximab therapy. However, he eventually had rapid clinical deterioration, was found to have increased brain lesions, and died nearly 6 months after the initial presentation. During this time, the second brain biopsy was found to show involvement by T-cell lymphoma of NK-cell lineage, which was EBV negative. No post-mortem examination was done to identify any systemic lymphoma. This case serves to expand the spectrum of lymphomas involving the CNS.

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EPID-18. USING GERMLINE VARIANTS FOR DIFFERENTIAL DIAGNOSIS OF INDETERMINATE BRAIN LESIONS: EVALUATING THE EFFECT OF TUMOR TYPE AND RACE ON SENSITIVITY AND SPECIFICITY OF GLIOMA polygenic risk models

Neuro-Oncology ◽

10.1093/neuonc/noab196.351 ◽

2021 ◽

Vol 23 (Supplement_6) ◽

pp. vi89-vi89

Author(s):

Jeanette Eckel-passow ◽

Decker Paul ◽

Matthew Kosel ◽

Thomas Kollmeyer ◽

Kristen Drucker ◽

...

Keyword(s):

Differential Diagnosis ◽

Brain Lesions ◽

Cns Lymphoma ◽

Tumor Type ◽

Healthy Controls ◽

Risk Models ◽

Primary Tumors ◽

Polygenic Risk ◽

Solitary Metastasis ◽

The Mean

Abstract Abnormalities on brain MRI may be identified in ~15% of individuals aged 50-66. It can be difficult to discriminate glioma, CNS lymphoma, Inflammatory Demyelinating Disease (CNSIDD) and solitary metastasis, and misdiagnosis may expose patients to unnecessary anxiety, surgery, or radiotherapy. CNS lymphoma requires only biopsy, solitary metastasis may be resected and radiated or radiated empirically, and high-grade glioma requires maximal safe resection followed by chemoradiation. CNSIDD should only be biopsied when diagnostic uncertainty requires it, and resection and radiotherapy are unnecessary, introducing unwarranted morbidity. Polygenic risk models can identify patients at the highest risk of developing glioma; we hypothesized that these polygenic models could help with differential diagnosis of indeterminate brain lesions. We also hypothesized that race would be an important contributing factor in the models. In the initial discovery and validation European (EUR) cohorts the mean probability of glioma for IDHmut non-codeleted glioma was 0.55 and 0.52, respectively, and in healthy controls was 0.19 and 0.21, respectively. To further evaluate sensitivity, we analyzed additional genotype data from 867 gliomas (764 EUR, 54 AFR, 24 AMR, 15 EAS, 10 SAS) from The Cancer Genome Atlas (TCGA). Across 764 EUR IDHmut non-codeleted glioma, the mean probability 0.53, whereas across 54 AFR and 24 AMR the mean was 0.22 and 0.32, respectively. To evaluate specificity, we analyzed 3200 TCGA patients with primary tumor types that commonly metastasize to the brain (2676 EUR, 365 AFR, 46 AMR, 95 EAS, 18 SAS), and 236 AFR healthy controls. For patients with non-CNS primary tumors, the mean probability ranged from 0.09-0.18 for EUR and 0.04-0.07 for AFR. For AFR healthy controls, the mean was 0.05. Overall, race is a significant factor for polygenic risk models. Further work entails evaluating polygenic risk models in IDHwt glioma, CNS lymphoma and CNSIDD cohorts as well as in additional races.

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APRIL and BAFF: novel biomarkers for central nervous system lymphoma

Journal of Hematology & Oncology ◽

10.1186/s13045-019-0796-4 ◽

2019 ◽

Vol 12 (1) ◽

Cited By ~ 4

Author(s):

Matthias Mulazzani ◽

Marion Huber ◽

Sabine Borchard ◽

Sigrid Langer ◽

Barbara Angele ◽

...

Keyword(s):

B Cell ◽

Central Nervous System Lymphoma ◽

B Cell Lymphoma ◽

Close Correlation ◽

Brain Lesions ◽

Cns Lymphoma ◽

Diagnosis And Prognosis ◽

Csf Analysis ◽

Csf Levels

Abstract Background Early diagnosis of CNS lymphoma (CNSL) is essential for successful therapy of this rapidly progressing brain tumor. However, in patients presenting with focal brain lesions, fast and reliable diagnosis of PCNSL remains a challenge. A proliferation-inducing ligand (APRIL) and B cell activating factor (BAFF) are important factors in the pathophysiology, diagnosis, and prognosis of systemic B cell malignancies. However, their utility as biomarkers for the diagnosis of CNSL and their effects on CNSL cells remain unclear. Methods In this prospective study, we analyzed the levels of APRIL and BAFF in the cerebrospinal fluid (CSF) of 116 patients with suspected focal brain lesions, including 53 CNSL patients. Additionally, we serially measured their levels during chemotherapy and relapse. Furthermore, we analyzed the effect of APRIL and BAFF on two B cell lymphoma cell lines using proliferation, viability, and chemotaxis assays. Results CSF levels of APRIL and BAFF reliably differentiated CNSL from other focal brain lesions (including primary and metastatic brain tumors, autoimmune-inflammatory lesions, and neuroinfectious lesions) with a specificity of 93.7% (APRIL, BAFF) and a sensitivity of 62.3% (APRIL) and 47.1% (BAFF). Serial CSF analysis of CNSL patients during chemotherapy and relapse demonstrates a close correlation of APRIL CSF levels and the course of this disease. In vitro, APRIL and BAFF showed anti-apoptotic effects during MTX treatment and mediated chemotaxis of malignant B cells. Conclusion This study extends the spectrum of valuable diagnostic biomarkers in CNSL. In patients with focal brain lesions, measurement of APRIL in CSF could help accelerating the diagnosis of CNSL. Moreover, our results highlight an important role of APRIL and BAFF in the pathophysiology of CNSL.

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