Publications by authors named "Valerie Rigau"
Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.
Neuropathol Appl Neurobiol
December 2024
Article Synopsis
Article Synopsis
- Researchers studied 600 patients with a specific type of brain tumor called IDH-mutant low-grade gliomas to see how well a certain type of surgery called awake functional-based resection worked for them.
- The results showed that most patients (93.7%) returned to work, and the surgery had a small effect on thinking skills.
- Patients lived a long time after surgery, with the average survival time being over 20 years, and certain factors like type of tumor and how much was removed during surgery helped predict better outcomes.
Purpose: Meningeal solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) are uncommon tumours that have been merged into a single entity in the last 2021 WHO Classification of Tumors of the Central Nervous System. To describe the epidemiology of SFT/HPC operated in France and, to assess their incidence.
Methods: We processed the French Brain Tumour Database (FBTDB) to conduct a nationwide population-based study of all histopathologically confirmed SFT/HPC between 2006 and 2015.
Background: Patients affected by Von Hippel-Lindau (VHL) are prone to develop central nervous system neoplasms such as hemangioblastomas (HBs). Myxopapillary ependymoma (MPE) is not commonly associated with VHL disease.
Case Description: We present the first case of a VHL patient affected by simultaneous silent cauda equina MPE and a symptomatic conus medullaris HB.
Article Synopsis
- This study investigated the treatment timing and choice for patients with newly diagnosed diffuse low-grade glioma (DLGG) after surgery, focusing on the impact of first-line temozolomide on their quality of life (QoL) and neuropsychological health.
- A total of 26 out of 29 eligible patients participated in the study, showing high participation (89.7%) and adherence (95.7%) rates during longitudinal assessments over 12 months.
- Results indicated that while QoL and neurocognitive outcomes remained stable or improved during the treatment period, the short-term effects of temozolomide on these measures appeared limited, warranting further long-term investigations with larger groups.
Background And Objectives: Meningioma is one of the most common neoplasm of the central nervous system. To describe the epidemiology of meningioma operated in France and, to assess grading and histopathological variability among the different neurosurgical centres.
Methods: We processed the French Brain Tumour Database (FBTDB) to conduct a nationwide population-based study of all histopathologically confirmed meningiomas between 2006 and 2015.
CD138 as a Specific CSF Biomarker of Multiple Sclerosis.
Neurol Neuroimmunol Neuroinflamm
May 2024
Background And Objectives: The aim of this study was to identify novel biomarkers for multiple sclerosis (MS) diagnosis and prognosis, addressing the critical need for specific and prognostically valuable markers in the field.
Methods: We conducted an extensive proteomic investigation, combining analysis of (1) CSF proteome from symptomatic controls, fast and slow converters after clinically isolated syndromes, and patients with relapsing-remitting MS (n = 10 per group) using label-free quantitative proteomics and (2) oligodendrocyte secretome changes under proinflammatory or proapoptotic conditions using stable isotope labeling by amino acids in cell culture. Proteins exhibiting differential abundance in both proteomic analyses were combined with other putative MS biomarkers, yielding a comprehensive list of 87 proteins that underwent quantification through parallel reaction monitoring (PRM) in a novel cohort, comprising symptomatic controls, inflammatory neurologic disease controls, and patients with MS at various disease stages (n = 10 per group).
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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- - SARS-CoV-2 infection can cause both immediate and long-lasting neurological issues, complicating the understanding of the virus's impact on the brain after COVID-19.
- - Research using brain models and samples shows that while SARS-CoV-2 can infect neural cells, the extent is low, but it can lead to abnormal changes in synapses and electrical activity in the brain.
- - The study found that treating brain organoids with a specific compound could help restore normal brain activity and reduce the negative effects caused by the virus at synapses, highlighting potential avenues for understanding and treating COVID-19-related brain complications.
Article Synopsis
- The study investigates the relationship between the number of brain metastases (BM) and total tumor burden (TTB) with overall survival (OS) in patients with non-small cell lung cancer (NSCLC) who underwent surgery for brain metastases.
- A total of 184 patients were analyzed, revealing that the median OS was 19.2 months, with younger patients and those with fewer metastases and lower TTB having improved survival rates.
- Key findings suggest that factors like single brain metastasis and additional treatments, such as radiation and targeted therapy, significantly correlate with better patient outcomes post-surgery.
Article Synopsis
- Pilocytic astrocytomas (PA) are tumors that have unique features based on where they are located in the brain or spine.
- Doctors face challenges in telling PAs apart from similar tumors, especially in the brain's hemispheric region.
- A study looked at different types of PAs, and found that they often affect kids and can show various patterns in medical tests, highlighting the need for careful examination for accurate diagnosis.
Article Synopsis
- The study examined human fetal anatomy very early post-mortem at 8 weeks of gestation using advanced imaging technologies like micro-CT and high-field MRI.
- Nine fetuses were analyzed, showing the imaging provided clear anatomical details without damaging the tissue, allowing for further histological study.
- The research indicates that these imaging techniques enable early virtual autopsy, which could assist in genetic counseling for parents dealing with miscarriage.
The aim of this study was to identify metabolomic signatures associated with the gliomagenesis pathway (-mutant or -wt) and tumor grade of diffuse gliomas (DGs) according to the 2021 WHO classification on frozen samples and to evaluate the diagnostic performances of these signatures in tumor samples that are formalin-fixed and paraffin-embedded (FFPE). An untargeted metabolomic study was performed using liquid chromatography/mass spectrometry on a cohort of 213 DG samples. Logistic regression with LASSO penalization was used on the frozen samples to build classification models in order to identify -mutant vs.
View Article and Find Full Text PDFWe report here about two novel tumours classified as extraventricular neurocytomas (EVN) using DNA-methylation profiling, associated with NTRK2 fusions instead of the usual FGFR1 alterations so far attributed to this tumoural entity. We present the second detailed case of an intraventricular presentation in the MC EVN. Our findings broaden the spectrum of MC EVN and have implications in terms of diagnosis, therapy and terminology.
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- - The study focused on examining the relationship between primary Sjögren's syndrome (pSS) and cancer, specifically analyzing the clinical, pathological, and immunological aspects of pSS patients who also had cancer, compared to those without cancer.
- - Out of 165 pSS patients, 55 had cancers, primarily solid neoplasms, with breast and lung cancers being the most common; significantly, many cancers were diagnosed close to or shortly after the pSS diagnosis.
- - Findings suggest that there may be a connection between breast cancers and pSS, implying that the immune system's behavior in pSS patients could play a role in cancer development or control.
Purpose: The management of recurrent WHO grades II-III (rGII-III) glioma is not well established. This study describes the clinical outcomes in patients who received bevacizumab as rescue treatment.
Methods: In this retrospective study, the main inclusion criteria were as follows: adult patients with histologicaly proved rGII-III glioma according 2016 WHO classification treated with bevacizumab from 2011 to 2019, T1 contrast enhancement on MRI.
Unlabelled: Glioblastomas (GBM) are heterogeneous tumors with high metabolic plasticity. Their poor prognosis is linked to the presence of glioblastoma stem cells (GSC), which support resistance to therapy, notably to temozolomide (TMZ). Mesenchymal stem cells (MSC) recruitment to GBM contributes to GSC chemoresistance, by mechanisms still poorly understood.
View Article and Find Full Text PDFBackground And Objectives: Spinal cord metastasis arising from an intracranial glioblastoma is a rare and late event during the natural course of the disease. These pathological entities remain poorly characterized. This study aimed to identify and investigate the timeline, clinical and imaging findings, and prognostic factors of spinal cord metastasis from a glioblastoma.
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- - PsGBM is a rare and aggressive spinal tumor that often leads to significant neurological decline and is typically difficult to remove surgically, complicating the prognosis assessment.
- - A study involving 33 patients found that the median overall survival was 13.1 months, with factors such as performance status and tumor location impacting survival rates significantly.
- - Key predictors for better overall survival include a good ECOG performance status, while a poor KPS score and cervical tumor location correlate with shorter survival.
Background: Gliomas with FGFR3::TACC3 fusion mainly occur in adults, display pathological features of glioblastomas (GB) and are usually classified as glioblastoma, IDH-wildtype. However, cases demonstrating pathological features of low-grade glioma (LGG) lead to difficulties in classification and clinical management. We report a series of 8 GB and 14 LGG with FGFR3:TACC3 fusion in order to better characterize them.
View Article and Find Full Text PDFBackground: About one-third of anterior skull base meningiomas show Hedgehog pathway activation. We have recently identified GAB1 as a surrogate marker for Hedgehog pathway-activated meningiomas.
Objective: To determine the reproducibility and prognostic value of GAB1 marker in anterior skull base meningiomas.