Istvan Bodi

• MD FRCPath
• Consultant at King's College Hospital NHS Foundation Trust

The age‐associated neurodegenerative disorder, Lewy body dementia (LBD), encompasses neuropsychiatric symptom‐overlapping Dementia with Lewy bodies (DLB) and Parkinson's Disease with Dementia (PDD). We characterised how differential mitochondrial DNA (mtDNA) profiles contribute to neurotype‐specific neurodegeneration and thereby clinicopathological...

Intracranial dermoid cysts are benign lesions that may be diagnosed incidentally or present symptomatically due to mass effect—focal neurological deficits, seizures and/or hydrocephalus—or chemical meningitis secondary to spontaneous rupture. The use of tubular retractors in minimally invasive parafascicular surgery (tsMIPS) has been described exte...

Histone mutations (H3 K27M, H3 G34R/V) are molecular features defining subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification recognises in exceptional cases, these mutations co-occur. We report one such case of a 2-year-old...

BACKGROUND Histone mutations (H3 K27M, H3 G34R/V) define subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification recognises exceptional cases where these mutations co-occur. We report one such case of a 2-year-old female pres...

In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early ons...

Non-germinomatous germ cell tumours of the central nervous system (CNS NG-GCT) have no standardized treatment at relapse and prognosis is dismal. Additionally, limited patient numbers preclude any clinical trials in this setting. Here we report the case of an adolescent with relapsed metastatic pineal yolk sac tumour treated with induction chemothe...

Background and objective: Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had...

Background & objectives: Comprehensive molecular analysis is essential for accurate diagnosis of paediatric central nervous system tumours, which often requires parallel running of diverse testing methods. We evaluated the diagnostic utility of whole genome sequencing (WGS) compared with a standard-of-care molecular panel. Methods: Fresh brain tumo...

Background & objectives: Gangliogliomas are low-grade epilepsy associated tumours (LEAT) with frequent BRAF V600E mutation, however, rare cases with other MAPK pathway alterations or gene fusions have been recently reported. We present here the integrated histo-molecular classification of 47 cases. Methods: Retrospective analysis of a departmen...

Background & objectives: Intracranial mesenchymal tumour (IMT), FET::CREB fusion-positive is a provisional tumour type in the 2021 WHO Classification of CNS tumours awaiting further clarification. Here, we present the clinicopathological findings, therapeutic management and follow-up data of six cases. Methods: A retrospective departmental study fo...

AIMS Prolonged follow-up with imaging has costs both financial and psychological. We sought to review clinical and radiological follow-up for operated dysembryoplastic neuroepithelial tumour (DNET) and ganglioglioma in our unit. METHOD Retrospective review of patients diagnosed with WHO grade 1 DNET or ganglioglioma identified from our histopathol...

Hypertrophic pachymeningitis is a rare disorder of the dura mater of the spine or brain. It can be caused by inflammatory, infective or neoplastic conditions or can be idiopathic. We report a man with hypertrophic pachymeningitis and bilateral chronic subdural haematoma caused by IgG4-related disease. We highlight the diagnostic challenges and disc...

MGMT promoter methylation is related to the increased sensitivity of tumour tissue to chemotherapy with temozolomide (TMZ) and thus to improved patient survival. However, it is unclear how the extent of MGMT promoter methylation affects outcomes. In our study, a single-centre retrospective study, we explore the impact of MGMT promoter methylation i...

Introduction: Angiocentric gliomas (AG) in brainstem location are exceedingly rare and might cause differential diagnostic problems and uncertainty regarding the best therapeutic approach. Hereby, we describe the clinicopathological findings in a brainstem AG presenting in a toddler child and review the literature. Case report: A 2-year-old boy pr...

Background Diffuse hemispheric glioma, H3 G34-mutant, is a novel paediatric tumour type in the fifth edition of the WHO classification of CNS tumours associated with an invariably poor outcome. We present a comprehensive clinical, imaging and pathological review of this entity. Methods Patients with confirmed H3 G34R-mutant high-grade glioma were...

The ratio of T1-weighted/T2-weighted magnetic resonance images (T1w/T2w MRI) has been successfully applied at the cortical level since 2011 and is now one of the most used myelin mapping methods. However, no reports have explored the histological validity of T1w/T2w myelin mapping in white matter. Here we compare T1w/T2w with ex vivo postmortem his...

Subependymal Giant Cell Astrocytoma (SEGA) is a common diagnosis in patients with Tuberous Sclerosis. Although surgical treatment is often required, resection may entail a significant risk for cognitive function given the anatomical relation with critical structures such as the fornices and subgenual area. Therefore, target subtotal resections usin...

Background Amyloid-β-related angiitis (ABRA) is a rare complication of cerebral amyloid angiopathy, characterized by amyloid-β deposition in the leptomeningeal and cortical vessels with associated angiodestructive granulomatous inflammation. The clinical presentation is variable, including subacute cognitive decline, behavioural changes, headaches,...

AIMS 5-ALA (Gliolan©) is a valuable surgical tool used predominantly in high grade tumours, which utilises tissue fluorescence to improve the visualisation of the brain-tumour interface. This ensures safe maximal resection, while preserving healthy brain. While Gliolan© use in low grade tumours has previously been reported with variable results, re...

Introduction Craniopharyngiomas are benign tumours mainly confined to the cranial cavity in the suprasellar region. Research Question and Case Description: We present a rare case of an aggressive papillary craniopharyngioma with disseminated spinal intradural disease. A 67-year-old woman presented with a 4-month history of headache, visual disturba...

Papillary thyroid carcinoma (PTC) is the most common malignancy originating from the thyroid, with a good overall prognosis. However, distant metastasis of such lesions is very rare, with the brain being an incredibly uncommon site for secondary spread. The authors report a case of PTC brain metastasis 17-years after successful treatment of the pri...

Background and Aim Brainstem gliomas are rare, accounting for less than 2% of adult gliomas. They are difficult to diagnose and challenging to treat [Hu et al, 2016]. Here, we report a patient with an unusual clinical presentation of brainstem glioma, supported by radiological and histopathological findings. Clinical presentation A 61-year old mal...

Biallelic pathogenic variants in phosphopantothenoylcysteine synthetase, PPCS, are a rare cause of a severe early‐onset dilated cardiomyopathy with high morbidity and mortality. To date, only five individuals with PPCS‐mutations have been reported. Here, we report a female infant who presented in the neonatal period with hypotonia, a necrotizing my...

Glomangiomyomatosis is an extremely rare variant of glomus tumours. We describe the first known case of paravertebral glomangiomyomatosis in the literature to cause spinal cord compression. A 45-year old female patient presented with sudden onset of left leg pain and progressive weakness in left-sided hip flexion. An MRI spine revealed a large, lob...

Paraganglioma is a slowly growing benign tumour arising from neural crest cells of the autonomic nervous system. Head and neck paragangliomas are rare, and only a few cases of skull base paragangliomas have been reported in the literature. The endoscopic endonasal approach to clival and skull base lesions is becoming more popular and applicable. We...

Ki67 is a marker for proliferation of a given cell population. Low expression of Ki67 may be associated with a favourable outcome. We investigate how the proliferation index correlates with the location, morphology and behaviour of WHO grade II ependymomas with a single-centre cohort study of adult patients admitted for surgery of WHO grade II epen...

High grade gliomas (HGG) have a dismal prognosis with survival rates of 15-35%. Approximately 10-12% of pediatric HGG occur in young children and their molecular biology and clinical outcomes differ from those arising at older ages. We report on four children aged <5 years newly diagnosed with non-brainstem HGG between 2011 and 2018 who were treate...

Objectives Ecchordosis physaliphora (EP) is a benign notochord lesion of the clivus arising from the same cell line as chordoma, its malignant counterpart. Although usually asymptomatic, it can cause spontaneous cerebrospinal fluid (CSF) rhinorrhea. Benign notochordal cell tumor (BNCT) is considered another indolent, benign variant of chordoma. Alt...

Mutations in the sarcomeric protein titin, encoded by TTN , are emerging as a common cause of myopathies. The diagnosis of a TTN -related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathologica...

Background Lower-grade gliomas may be indolent for many years before developing malignant behaviour. The reasons mechanisms underlying malignant progression remain unclear. Methods We collected blocks of live human brain tissue donated by people undergoing glioma resection. The tissue blocks extended through the peritumoral cortex and into the gli...

Objective: To report the clinical presentation, management and outcomes of young patients with prolactinomas (<20 years) and conduct a systematic review and meta-analysis. Patients and design: Clinical, biochemical and radiological data (1996-2018) were collected from our centre. A systematic review and meta-analysis of published literature (199...

Introduction Inter-dural juxta-facet spinal cysts occur rarely. They form as part of the degenerative spinal disease process and can be misdiagnosed as synovial cysts or ganglion cysts. We report the case of a thoracic inter-dural juxta-facet spinal cyst causing acute compressive thoracic myelopathy. Methods The data was collected retrospectively...

Background Neurocysticercosis is a helminthic infestation of the brain by the encysted larval form of the human tape worm Taenia Solium. It is a common cause of focal epilepsy in countries with inadequate sanitation following oro-faecal transmission and ingestion of food contaminated with TaeniaSolium eggs. The larvae can lodge in different parts o...

Background Surgery is a widely accepted treatment option for drug-resistant focal epilepsy. A detailed analysis of longitudinal postoperative seizure outcomes and use of antiepileptic drugs for different brain lesions causing epilepsy is not available. We aimed to analyse the association between histopathology and seizure outcome and drug freedom u...

The definitive diagnosis of Alzheimer’s disease (AD) rests with post-mortem neuropathology despite the advent of more sensitive scanning and the search for reliable biomarkers. Even though the classic neuropathological features of AD have been known for many years, it was only relatively recently that more sensitive immunohistochemistry for amyloid...

Background: The authors present the first reported case of a fibroblastic reticular cell tumor (FRCT) presenting with spinal cord compression. FRCTs are the rarest subset of dendritic cell tumors, a specific group of hematologic malignancies. FRCTs reportedly behave similar to low-grade sarcomas as opposed to malignant tumors. Case description:...

Little is known about pseudoprogression in brain tumours other than gliomas. A 9‐year‐old male child with a pineal teratoma/germinoma underwent surgical resection followed by adjuvant chemo‐radiotherapy. The magnetic resonance imaging scan 4 months post‐radiotherapy showed a contrast‐enhancing lesion within the surgical cavity suspicious of recurre...

Background The use of intraoperative monitoring (IOM) in glioma surgery is a widely adopted and clinically validated adjunct to define safe zones of resection for the neurosurgeon. However, the role of IOM in cases of a significant preexisting motor deficit is questionable. Case Description We describe a case of a 25-year-old with a recurrent prese...

In this paper we report four new patients, from 3 kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterized by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto‐inflammation, illustrate in detail the histopathological f...

Background Gliomas are composed of multiple clones of tumor cells. This intratumor heterogeneity contributes to the ability of gliomas to resist treatment. It is vital that gliomas are fully characterized at a molecular level when a diagnosis is made to maximize treatment effectiveness. Methods We collected ultrasonic tissue fragments during gliom...

Diffuse midline gliomas, H3 K27M-mutant, World Health Organization (WHO) grade IV represent a distinct glioma entity with a predominantly paediatric presentation and remarkably poor prognosis. This report presents a case of a 73-year-old woman with a diffuse midline glioma, H3 K27M-mutant, WHO grade IV with a remarkable longitudinal extension, exte...

Background: In the management of meningiomas, single-fraction stereotactic radiosurgery (SRS) is an established alternative treatment to surgical resection. However, its effects on tumorigenesis and malignant transformation are still uncertain. Case description: We have described a grade II parafalcine meningioma that was initially surgically re...

Gliomas often present clinically with seizures. Tumour-associated seizures can be difficult to control with medication. A deeper understanding of the cellular mechanisms underlying tumour-associated seizures would provide a basis for developing new treatments. Here, we investigate epileptic discharges in peritumoral cortex using living human brain...

BACKGROUND Invading glioma cells affect the physiological function of the peritumoural cortex. This may manifest clinically as seizures. Here, we investigate the effect the invading glioma cells on the electrophysiological signalling of the peritumoral cortex using living human brain tissue donated by people having a craniotomy for glioma resection...

We describe the case of a 65-year-old lady who presented with mutism and a right hemiparesis. Imaging showed a severe spontaneous tension pneumocephalus. The cause was diagnosed as Ecchordosis physali-phora (EP). EP is a rare cystic congenital hamartomatous benign notochordal tumor (BNCT) arising from an ectopic notochordal remnant. To the authors'...

Purpose: The 2016 WHO tumour classification highlights the role of IDH1/2 gene mutation and 1p/19q co-deletion in classifying grade II/III gliomas. A recent cIMPACT-NOW update proposes the use of the term ‘Not Elsewhere Classified’ (NEC) for IDH-mutant, non co-deleted tumours. Here we show how the incorporation of ATRX immunohistochemistry can be u...

Early detection and accurate diagnosis of neurodegenerative disorders may provide better epidemiological data, closer monitoring of disease progression and enable more specialised intervention. We analysed the clinical records and pathology of brain donations from 180 patients from two Brains for Dementia Research cohorts to determine the agreement...

Sporadic prion diseases are fatal neurodegenerative disorders characterized clinically by rapidly progressive dementia and myoclonus. Variably protease‐sensitive prionopathy (VPSPr) is a recently identified sporadic human prion disorder that may present with a lengthy atypical clinical history. Here, we describe a case of VPSPr in a patient with a...

Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an addit...

Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare tumours. We describe a CAPNON in the posterior fossa and its associated neuropsychological sequelae to provide further evidence for the role of cerebellum in cognitive function. We report the clinical details, imaging, pre-operative neuropsychological assessment, histological features and...

Introduction Arachnoid cysts (ACs) account for a small proportion of all intracranial lesions. They are often incidental but can become symptomatic and even cause a threat to life. Symptoms are usually due to direct compression of neural elements and/or raised intracranial pressure. Case report We report the case of an infant with an enlarging pos...

Introduction: Neurofibromatosis type 2 (NF2) is an autosomal dominant hereditary disorder characterized by bilateral schwannomas and sometimes multiple meningiomas and spinal ependymomas. Only a few cases of mixed or collision tumours associated with this condition have been reported in the literature. Hereby we present a case of an extremely rare...

Introduction: Systemic sclerosis and associated syndromes may induce primary vascular changes in the brain mimicking various neurodegenerative diseases. Although cerebral hypoperfusion has been found in half of the patients with a scleroderma diagnosis (1), neuropathological alterations are scarcely reported. Here, we describe a case of extensive c...

Introduction: Neuronal alpha-synuclein deposits are the hallmark lesions of Diffuse Lewy Body disease (DLBD) whereas glioneuronal 4-repeat-tau accumulation defines Progressive Supranuclear Palsy (PSP). Rare cases of coexisting DLBD and PSP have been described, but the oligodendroglial pathology remains underappreciated in DLBD. Here we report a cas...

Introduction: Recent studies have highlighted the utility of whole genome methylation analysis for the diagnosis of brain tumours. In conjunction with the MolecularNeuropathology.org1 portal the technology can provide low resolution copy number information, MGMT promoter methylation status and even diagnosis. Here we share our own experience of wel...

Background Primary CNS malignant rhabdoid tumors are very rare in adults and much less is known about their biological behavior than in children. Recently, two adult cases of SMARCB1 (also known as INI1)-deficient tumor with rhabdoid cells have been described, suggesting an emerging group of primary meningeal SMARCB1-deficient tumors. We have recen...

Background: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. Methods: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary...

Aging-related tau astrogliopathy (ARTAG) is a recently introduced terminology. To facilitate the consistent identification of ARTAG and to distinguish it from astroglial tau pathologies observed in the primary frontotemporal lobar degeneration tauopathies we evaluated how consistently neuropathologists recognize (1) different astroglial tau immunor...

Introduction: Sporadic prion diseases are fatal neurodegenerative disorders characterised clinically by rapidly progressive dementia and myoclonus. Variably protease-sensitive prionopathy (VPSPr) is a recently identified human prion disorder that may present with a lengthy atypical clinical history. Here, we describe a case of VPSPr in a patient wi...

Introduction: Multiple system atrophy (MSA) is a sporadic neurodegenerative disease with histological hallmark of the oligodendroglial Papp-Lantos (PL) bodies. Recently, α-synuclein positive ring-like inclusions in the granule cells of the dentate fascia have been described in atypical MSA. We report a case of MSA with α-synuclein positive limbic i...

OBJECTIVE: Pilocytic astrocytomas are extremely rare in octagenarians especially those occurring in the third ventricle. They are similar histopathologically to pilomyxoid astrocytomas but the latter are more aggressive. We report the case of an 86-year old patient presenting with confusion and lethargy secondary to a third ventricular lesion causi...

Objective Pilocytic astrocytomas are common glial neoplasms in children. They are less common in adults and extremely rare in octagenarians especially when they occur in the third ventricle. They are similar histopathologically to pilomyxoid astrocytomas but the latter are more aggressive. We report a case of an 86-year old lady who presented with...

Objective Pilocytic astrocytomas are common glial neoplasms in children. They are less common in adults and extremely rare in octagenarians especially when they occur in the third ventricle. They are similar histopathologically to pilomyxoid astrocytomas but the latter are more aggressive. We report a case of an 86-year old lady who presented with...

Introduction: Rosetted glioneuronal tumours or glioneuronal tumours with neuropil-like islands (RGNT/GNTNI) were included in the WHO classification in 2007 as low grade, mixed tumors. Since their description few cases with malignant transformation have been reported, and little is known about their molecular alterations. Methods: A 23 yo girl wit...

Introduction: Non-metallic agents routinely used in neurosurgery can cause a macrophagic reaction. In rare instances this can produce neurological symptoms or appear as space occupying lesions on brain imaging that may be indistinguishable from a recurrent tumour. Material & Methods: 17 cases were collected with at least two subsequent resections...

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different...

Pathological accumulation of abnormally phosphorylated tau protein in astrocytes is a frequent, but poorly characterized feature of the aging brain. Its etiology is uncertain, but its presence is sufficiently ubiquitous to merit further characterization and classification, which may stimulate clinicopathological studies and research into its pathob...

INTRODUCTION: Previously we have shown that glioblastomas with an oligodendroglial component (GBMO) did not differ from other glioblastomas in the frequency of 1p/19q deletion or isocitrate dehydrogenase mutation. Here we seek to determine whether anaplastic oligodendrogliomas with necrosis and very prominent endothelial cell hyperplasia (AO + N),...

The BRAF V600E mutation has recently been identified in a high percentage of papillary craniopharyngiomas [1, 2]. The V600E mutation constitutively activates the MEK-ERK pathway, and the mutation-specific BRAF inhibitor vemurafenib, which targets mutated BRAF, is effective in malignant melanoma [3]. The use of vemurafenib in malignancy now includes...

Brain banks allow researchers access to tissue from well-characterised neurodegenerative disease cases. Fixed tissue employed for diagnosis is often not appropriate for research and frozen tissue is therefore made available. Many brain banks use a protocol where half the brain is fixed and half frozen. Recently a study has shown that there can be a...