Case Report: Need for Caution in the Diagnosis of GFAP Astrocytopathy—A Case of GFAP Astrocytopathy Coexistent With Primary Central Nervous System Lymphoma

Abstract

We reported a case of primary central nervous system lymphoma (PCNSL) coexistent with glial fibrillary acidic protein (GFAP) astrocytopathy, and discussed the problems needing attention in the diagnosis and differential diagnosis of GFAP astrocytopathy. Our patient was a 51-year-old female who presented with somnolence for a month, and memory declination for 10 days. Brain magnetic resonance imaging (MRI) demonstrated multiple abnormal enhancement lesions in bilateral basal ganglia and around the third ventricle, as well as transient T2-weighted hyper-intensity lesions at the splenium of the corpus callosum during the course of the disease. The cerebrospinal fluid (CSF) was positive for anti-GFAP antibodies by antigen-transfected HEK293 cell-based assay (indirect immunofluorescence assay). She was initially diagnosed with autoimmune GFAP astrocytopathy. After treatment with corticosteroids for about 2 months, she displayed poor response and even worsened clinical manifestations when the dose of prednisone reduced to 45 mg. Stereotactic brain biopsy was adopted and the diagnosis of large B-cell lymphoma, non-germinal center type was established on pathological examination. The results of brain biopsy also showed perivascular inflammation and CD8+ T cell infiltration, which also accorded with GFAP astrocytopathy. After chemotherapy with rituximab and methotrexate, the patient showed clinical and radiological improvement significantly. Our findings suggest that positivity of GFAP antibody calls for cautious interpretation. Cancer screening appropriate for age, sex, and risk factors is recommended for GFAP antibody-positive patients, especially for patients with atypical clinical and radiologic manifestations.

Autoimmune Glial Fibrillary Acidic Protein (Gfap) Astrocytopa-Thy Accompanied with Reversible Splenial Lesion Syndrome (RESLES): A Case Report and Literature Review

“…The one left of the cases was confirmed to be coexisted with primary central nervous system lymphoma, MRI demonstrated multiple abnormal enhancement lesions in bilateral basal ganglia and around the third ventricle, and reversible lesion on SCC, also different with our case. He never had any flu-like symptoms such as fever [ 6 ].…”

“…Autoimmune GFAP autocytopathy accompanied with RESLES is rarely seen, only three cases have reported the same situation, but they are different in etiology, clinical, and MRI features [ 4 , 5 , 6 ]. The relationship between autoimmune GFAP astrocytopathy and RESLES remains unclear.…”

Clinical Manifestation, Auxiliary Examination Features, and Prognosis of GFAP Autoimmunity: A Chinese Cohort Study

“…PCNSL was found in Case 6. Another case of GFAP-IgG that was coexistent with PCNSL has been reported this year, which raised two important issues [ 21 ]. Firstly, GFAP autoimmunity may not always be a remote effect of the neoplasm but could also happen intrathecally.…”

Autoimmune‐mediated encephalitis and mimics: A neuroimaging review

“…92 Additionally, rare cases of coexisting primary CNS lymphoma and astrocytoma in patients with positive CSF GFAP antibody have been reported. 92,93 While paraneoplastic associations remain uncommon with GFAP astrocytopathy, it is sporadically associated with small cell lung cancer, teratoma (most common), and various adenocarcinomas. 87 Furthermore, association of GFAP astrocytopathy with preceding viral infections such as influenza A virus, herpes simplex virus (HSV), varicella zoster virus has been observed…”

“…High frequency of coexisting systemic autoimmune disorders including type 1 diabetes mellitus, autoimmune thyroid disease, and rheumatoid arthritis has also been documented in GFAP astrocytopathy 92 . Additionally, rare cases of coexisting primary CNS lymphoma and astrocytoma in patients with positive CSF GFAP antibody have been reported 92,93 . While paraneoplastic associations remain uncommon with GFAP astrocytopathy, it is sporadically associated with small cell lung cancer, teratoma (most common), and various adenocarcinomas 87 .…”