Publications by authors named "Mathilde Duchesne"

A novel methylation class, "neuroepithelial tumor, with PLAGL1 fusion" (NET-PLAGL1), has recently been described, based on epigenetic features, as a supratentorial pediatric brain tumor with recurrent histopathological features suggesting an ependymal differentiation. Because of the recent identification of this neoplastic entity, few histopathological, radiological and clinical data are available. Herein, we present a detailed series of nine cases of PLAGL1-fused supratentorial tumors, reclassified from a series of supratentorial ependymomas, non-ZFTA/non-YAP1 fusion-positive and subependymomas of the young.

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Background: Cytomegalovirus (CMV) can cause a wide panel of ocular infections. The involvement of CMV as a cause of anterior uveitis in the immunocompetent patient is recent and remains poorly understood.

Objective: To investigate the presence of CMV in anterior uveal tissues of immunocompetent corneal donors.

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Antibody-drug conjugates (ADCs) are anticancer drugs consisting of a monoclonal antibody, targeting selective tumor antigens, to which has been frequently associated a highly potent cytotoxic agent, the monomethyl auristatin E (MMAE) using a chemical linker. MMAE is a tubulin polymerization inhibitor derived from dolastin-10. These MMAE-ADCs are responsible for peripheral nerve toxicities.

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Background: In the context of personalized medicine, screening patients to identify targetable molecular alterations is essential for therapeutic decisions such as inclusion in clinical trials, early access to therapies, or compassionate treatment. The objective of this study was to determine the real-world impact of routine incorporation of FoundationOne analysis in cancers with a poor prognosis and limited treatment options, or in those progressing after at least one course of standard therapy.

Methods: A FoundationOneCDx panel for solid tumor or liquid biopsy samples was offered to 204 eligible patients.

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The indications for nerve biopsy have diminished in recent years. This examination nevertheless remains essential in certain cases of peripheral neuropathies, making it possible to specify the diagnosis or the mechanism of injury for a therapeutic purpose. It is a simple but "invasive" procedure, which can only be performed once on the same nerve.

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Aims: NTRK gene fusions have been described in a wide variety of central nervous system (CNS) and soft tissue tumours, including the provisional tumour type 'spindle cell neoplasm, NTRK-rearranged' (SCN-NTRK), added to the 2020 World Health Organisation Classification of Soft Tissue Tumours. Because of histopathological and molecular overlaps with other soft tissue entities, controversy remains concerning the lineage and terminology of SCN-NTRK.

Methods And Results: This study included 16 mesenchymal tumours displaying kinase gene fusions (NTRK fusions and one MET fusion) initially diagnosed as infantile fibrosarcomas (IFS), SCN-NTRK and adult-type fibrosarcomas from the soft tissue, viscera and CNS.

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CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated a series of eight patients with sensory neuropathy and/or an unexplained cough, who appeared to suffer from CANVAS, and we emphasized the clinical clues for early diagnosis. Investigations included clinical and routine laboratory analyses, skin biopsy, nerve biopsy and molecular genetics.

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Article Synopsis
  • This study investigates the pathological features of acute and chronic ataxic peripheral neuropathy, focusing on the node of Ranvier in nerve biopsies from two patients with different conditions: Miller Fisher syndrome (acute) and chronic ataxic neuropathies with disialosyl antibodies (CANDA).
  • Findings reveal that both patients exhibit lesions indicative of "paranodopathy," where the immune response negatively affects myelin and surrounding nerve structures.
  • The research concludes that immune-mediated peripheral neuropathies can be categorized as nodoparanodopathies, which involve various clinical presentations and may contribute to nerve damage through mechanisms related to anti-disialosyl antibodies.
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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated and treatable disease that may be associated with various systemic conditions. Our objective is to describe the clinical, electrophysiological and pathological data of a series of patients with both CIDP and hemopathy. In this retrospective study, we analyzed 21 patients with CIDP and various hemopathies (malignant or not), consecutively observed for almost five years.

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FET:CREB fusions have been described in a variety of tumors from various phenotypes. Recently, these fusion transcripts were reported in intracranial tumors, variably named intracranial mesenchymal myxoid tumors or angiomatoid fibrous histiocytomas. Controversy remains concerning the terminology for these tumors.

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Rosai-Dorfman disease is a non-Langherans cell histiocytosis typically revealed by a lymphadenopathy. Central nervous system involvement is rare, exceptionally isolated, and usually consists of dural masses mimicking meningioma. Very few reports have described non-dural-based lesions, especially with an intra-ventricular development.

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Article Synopsis
  • * Next generation sequencing (NGS) successfully identified European bat lyssavirus type 1a in the patient's brain tissue, confirming the cause of death, despite the diagnosis not suggesting rabies.
  • * The findings highlight the importance of NGS in detecting rare viruses and suggest that individuals in close contact with bats should consider rabies vaccinations, which are effective against EBLV-1.
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The cornea is a multi-layered structure which allows fine refraction and provides both resistance to external insults and adequate transparency. The corneal endothelium ensures stromal hydration, failure of which, such as in Fuchs endothelial corneal dystrophy, after trauma or in aging, may lead to loss of corneal transparency and induce blindness. Currently, no efficient therapeutic alternatives exist except for corneal grafting.

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  • Monoclonal gammopathy is a common condition that can range from mild forms to those associated with hematologic cancers.
  • * The condition is often linked with peripheral neuropathy, which means that investigating nerve issues may reveal underlying hematologic problems.
  • * Proper diagnosis is crucial to identify any malignant diseases early, and nerve biopsy may be an important tool in managing patients with this condition.*
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Aims: Edema of the limbs is uncommon in idiopathic inflammatory myopathies (IIM). The few reported cases have been associated with severe and refractory dermatomyositis (DM), sometimes in association with cancers. We aimed to determine if edematous myositis is a homogeneous subtype based on clinical, serological and pathological features.

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Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes (POEMS) syndrome is a rare systemic disorder linked to plasma cell dyscrasia and is related to elevation of vascular endothelial growth factor (VEGF). Diagnosis is still challenging and pathophysiology unclear. Because VEGF drives neovascularization, we investigated skin and nerve vascularization in 6 patients with POEMS syndrome compared with 5 control groups of polyneuropathies and healthy subjects (n = 104) from the University Hospital of Limoges between 2009 and 2018.

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Purpose: Assessment of the risk of recurrence is essential to determine the therapeutic strategy of meningioma treatment. Many relapsing or aggressive meningiomas show elevated mitotic and/or Ki67 indices, reflecting cell cycle deregulation. As CDKN2A is a key tumor suppressor gene involved in cell cycle control, we investigated whether CDKN2A alterations may be involved in tumor recurrence.

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Background And Purpose: Pre-surgical embolization of large intracranial meningioma has been demonstrated to decrease blood loss and to improve the resectability of the tumor. Few reports have evaluated the risk and benefits of using Onyx in this indication. The objective of our study was to assess the efficiency and safety of pre-surgical embolization in a consecutive series of intracranial meningioma using Onyx.

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Peripheral neuropathy is the major dose-limiting side effect of many currently used chemotherapies, such as vincristine (VCR). We recently demonstrated that candesartan, an angiotensin II type 1 receptor antagonist, was neuroprotective against resiniferatoxin-induced sensory neuropathy, and that this effect is mediated by stimulation of the angiotensin II type 2 receptor (AT2R). Thus, we evaluated the effect of preventive treatment with candesartan and a specific AT2R agonist, C21, on a mouse model of VCR-induced neuropathy.

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Infiltration of the peripheral nervous system (PNS) by lymphoma, called neurolymphomatosis, is a rare condition among the spectrum of lymphoma-associated neuropathies; its diagnosis is challenging. Cerebrospinal fluid (CSF) analysis is of great value, but nerve biopsy (NB) may be necessary to prove invasion by malignant cells. Clonality polymerase chain reaction (PCR)-based analysis is a validated method in the diagnosis of hematological malignancies, but there are very little data on its diagnostic yield on NB samples.

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Peripheral neuropathy is a common symptom throughout the population, with numerous possible etiologies. The diagnosis of peripheral neuropathies (and their causes) is mainly based on clinical, electrophysiological, biological, and imaging features. Areas covered: This paper reviews the main causes of neuropathy and discusses the usefulness of nerve biopsy (NB) in such cases.

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