Clinico-radiologic features and therapeutic strategies in tumefactive demyelination: a retrospective analysis of 50 consecutive cases

Vakrakou, Aigli G.; Tzanetakos, Dimitrios; Evangelopoulos, Maria-Eleftheria; Argyrakos, Theodoros; Tzartos, John; Anagnostouli, Maria; Andreadou, Elisabeth; Velonakis, Georgios; Toulas, Panagiotis; Gialafos, Elias; Dimitrakopoulos, Antonios; Psimenou, Erasmia; Stefanis, Leonidas; Kilidireas, Constantinos

doi:10.1177/17562864211006503

Cited by 11 publications

(11 citation statements)

References 47 publications

(59 reference statements)

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“…They stated that there were no correlations between treatment and disease outcome. Vakrakou et al suggested that when corticosteroids and plasma exchange are ineffective, cyclophosphamide can be an additional treatment option for TD ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Paraneoplastic Tumefactive Demyelination Associated With Seminoma

et al. 2022

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Paraneoplastic tumefactive demyelination (TD) is a rare disorder of the central nervous system that can be challenging to diagnose. Here, we describe a 32-year-old Japanese man with a TD associated with testicular seminoma. He presented with symptoms of right-sided motor and sensory impairment 2 days after vaccination for coronavirus disease 2019 (COVID-19). Brain magnetic resonance imaging (MRI) showed a high-intensity lesion in the left internal capsule. He had a 3-year history of enlargement of the left testicle. Blood examination showed tumor marker elevation and the presence of anti-amphiphysin antibodies. Whole-body computed tomography (CT) revealed mass lesions in the left testicle and enlargement of the retroperitoneal lymph nodes. Radical orchiectomy was performed. As the pathology showed testicular seminoma, chemotherapy was administered. After surgery, his neurological symptoms deteriorated. MRI revealed that the brain lesion had enlarged and progressed to a tumefactive lesion without gadolinium enhancement. The cerebrospinal fluid (CSF) examination was normal without pleocytosis or protein elevation. Steroid pulse therapy was added; however, his symptoms did not improve. A brain stereotactic biopsy was performed and the sample showed demyelinating lesions without malignant cells. As the initial corticosteroid therapy was ineffective, gamma globulin therapy was administered in parallel with chemotherapy, and the clinical symptoms and imaging findings were partially ameliorated. TD seldom appears as a paraneoplastic neurological syndrome. In addition, there are few reports of COVID-19 vaccination-associated demyelinating disease. Clinicians should recognize paraneoplastic TD, and the further accumulation of similar cases is needed.

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Section: Discussionmentioning

confidence: 99%

Case Report: Paraneoplastic Tumefactive Demyelination Associated With Seminoma

et al. 2022

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“…Cyclophosphamide has shown effectiveness in aggressive disease courses indicated by a poor response to corticosteroids and plasma exchange failure. Lessons from drug-related TDL, immunopathology studies of biopsied lesions and clinical cases reports indicate different cellular and humoral mechanisms implicated in the pathogenesis; lymphopenia-induced lymphoproliferation, persistent selected peripheral lymphopenia (CD8 or CD4 T cells), exaggerated innate immunity response either with pathogenic potential or regulatory / compensatory potential and exaggerated B cells response ( 16 , 99 ).…”

Section: Scientific Questions and Future Directionsmentioning

confidence: 99%

“…In our recent study, we analyzed the characteristics and outcomes of patients with recurrent TDLs ( 16 ). We also provided a therapeutic algorithm mainly based on the observed clinico-radiological response to treatment options at various time points.…”

Section: Introductionmentioning

confidence: 99%

Immunopathology of Tumefactive Demyelinating Lesions-From Idiopathic to Drug-Related Cases

et al. 2022

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Tumefactive demyelinating lesions (TDL) represent a diagnostic dilemma for clinicians, and in rare atypical cases a collaboration of a neuroradiologist, a neurologist, and a neuropathologist is warranted for accurate diagnosis. Recent advances in neuropathology have shown that TDL represent an umbrella under which many different diagnostic entities can be responsible. TDL can emerge not only as part of the spectrum of classic multiple sclerosis (MS) but also can represent an idiopathic monophasic disease, a relapsing disease with recurrent TDL, or could be part of the myelin oligodendrocyte glycoprotein (MOG)- and aquaporin-4 (AQP4)-associated disease. TDL can appear during the MS disease course, and increasingly cases arise showing an association with specific drug interventions. Although TDL share common features with classic MS lesions, they display some unique features, such as extensive and widespread demyelination, massive and intense parenchymal infiltration by macrophages along with lymphocytes (mainly T but also B cells), dystrophic changes in astrocytes, and the presence of Creutzfeldt cells. This article reviews the existent literature regarding the neuropathological findings of tumefactive demyelination in various disease processes to better facilitate the identification of disease signatures. Recent developments in immunopathology of central nervous system disease suggest that specific pathological immune features (type of demyelination, infiltrating cell type distribution, specific astrocyte pathology and complement deposition) can differentiate tumefactive lesions arising as part of MS, MOG-associated disease, and AQP4 antibody-positive neuromyelitis optica spectrum disorder. Lessons from immunopathology will help us not only stratify these lesions in disease entities but also to better organize treatment strategies. Improved advances in tissue biomarkers should pave the way for prompt and accurate diagnosis of TDL leading to better outcomes for patients.

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“…Cyclophosphamide infusions were discontinued and a steroid pulse therapy was performed. The patient was switched to rituximab with a dosing schedule of 1 g at days 1 Letter to the Editor Therapeutic Advances in Neurological Disorders 14 later. After 24 months from disease onset, the patient had mild right hemiparesis (EDSS score 2) and showed no evidence of disease activity on brain MRI.…”

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confidence: 99%

“…We read with interest the recent article by Vakrakou et al 1 about a retrospective analysis of clinico-radiological characteristics of patients with tumefactive demyelinating lesions (TDLs) and the seven-group stratification proposal. For group A, consistent with Marburg-like TDL, the authors proposed cyclophosphamide as a valid therapeutic option and reopened the debate about the treatment of aggressive demyelinating disorders.…”

mentioning

confidence: 99%