Homa Adle-Biassette

Assistance Publique – Hôpitaux de Paris | AP-HP · Departement de Pathologie

MandibuloAcral Dysplasia associated to MTX2 gene (MADaM) is a recently described progeroid syndrome (accelerated aging disease) whose clinical manifestations include skin abnormalities, growth retardation, and cardiovascular diseases. We previously proposed that mtx-2-deficient C. elegans could be used as a model for MADaM and to support this, we p...

Objectives Hypothalamic hamartomas (HHs) are rare developmental brain lesions associated with drug-resistant epilepsy and often subjected to epilepsy surgery. Brain somatic variants in genes affecting the Sonic hedgehog (Shh) and primary cilia signaling pathways have been implicated in approximately 50% of nonsyndromic HH cases. This study aims to...

Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic mosaicism due to post-zygotic mutations in genes of the PI3K-AKT-mTOR pathway, which produce a subset of dysmorphic cells clustered within healthy brain tissue. Here...

Focal cortical dysplasia type II (FCDII) is a cortical malformation causing refractory epilepsy. FCDII arises from developmental somatic mutations in mTOR pathway genes, leading to focal cortical dyslamination and abnormal cytomegalic cells. Which cell types carry pathogenic mutations and how they affect cell-type-specific transcriptional programs...

Purpose: Maximal safe tumor resection is the first line of treatment for IDH-mutated gliomas. However, when upfront surgical resection is deemed unsatisfactory due to tumor size and location, chemotherapy could represent an interesting alternative for reducing glioma extension and allowing for a safer and more efficient removal. Methods: We perf...

Brain-restricted somatic variants in genes of the mechanistic target of rapamycin signalling pathway cause focal epilepsies associated with focal cortical dysplasia type II. We hypothesized that somatic variants could be identified from trace tissue adherent to explanted stereoelectroencephalography electrodes used in the presurgical epilepsy worku...

Autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) are found in the blood of at least 15% of unvaccinated patients with life-threatening COVID-19 pneumonia. We report here the presence of auto-Abs neutralizing type I IFNs in the bronchoalveolar lavage (BAL) of 54 of the 415 unvaccinated patients (13%) with life-threatening COVID-19 pn...

(1) Background: In head and neck squamous cell carcinoma, tumor hypoxia has been associated with radio/chemoresistance and poor prognosis, whereas human papillomavirus (HPV)-positive status has a positive impact on treatment response and survival outcomes. The aim of this study was to evaluate the expression and the potential prognostic value of hy...

OBJECTIVE Chordomas are rare bone neoplasms characterized by a high recurrence rate and no benefit from any approved medical treatment to date. However, the investigation of molecular alterations in chordomas could be essential to prognosticate, guide clinical decision-making, and identify theranostic biomarkers. The aim of this study was to provid...

A light microscopy-based histopathology diagnosis of human brain specimens obtained from epilepsy surgery remains the gold standard to confirm the underlying cause of a patient’s focal epilepsy and further inform postsurgical patient management. The differential diagnosis of neocortical specimens in the realm of epilepsy surgery remains, however, c...

Chordomas are rare tumors of the axial skeleton that are refractory to conventional therapy. Few studies have compared the morphological and molecular characteristics of chordomas according to the skull base and sacral locations. Histopathological data and changes revealed by array comparative genomic hybridization (CGH) and next-generation sequenc...

Background Management of advanced chordomas remains delicate considering their insensitivity to chemotherapy. Homozygous deletion of the regulatory gene CDKN2A has been described as the most frequent genetic alteration in chordomas and may be considered as a potential theranostic marker. Here, we evaluated the tumor efficacy of the CDK4/6 inhibitor...

OBJECTIVE Chordomas represent one of the most challenging subsets of skull base and craniovertebral junction (CVJ) tumors to treat. Despite extensive resection followed by proton-beam radiation therapy, the recurrence rate remains high, highlighting the importance of developing efficient treatment strategies. In this study, the authors present thei...

Background: Autopsy studies have provided valuable insights into the pathophysiology of COVID-19. Controversies remain about whether the clinical presentation is due to direct organ damage by SARS-CoV-2 or secondary effects, such as overshooting immune response. SARS-CoV-2 detection in tissues by RT-qPCR and immunohistochemistry (IHC) or electron...

Background: Chordomas are considered as rare bone neoplasms characterized by a high level of recurrence and a poor long-term prognosis. Considering their chemo-radio-resistance, alternative treatment strategies are therefore strongly requested, but their development is limited by the paucity of relevant preclinical models. Mutations affecting genes...

Background: Chordomas are rare malignant skull-base/spine cancers with devastating neurological morbidities and mortality. Unfortunately, no reliable prognostic factors exist to guide treatment decisions. This work identifies DNA methylation-based prognostic chordoma subtypes that are detectable non-invasively in plasma. Methods: Sixty-eight tissue...

The International Society for the Study of Vascular Anomalies (ISSVA) has defined four vascular lesions in the central nervous system (CNS): arteriovenous malformations, cavernous angiomas (also known as cerebral cavernous malformations), venous malformations, and telangiectasias. From a retrospective central radiological and histopathological revi...

Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy we...

Simple Summary Chordomas are rare bone tumors characterized by a high recurrence rate. Presently, no medical treatment is available for advanced diseases due to the lack of molecular data and preclinical models. The current study showed the establishment and characterization of the largest panel chordoma xenografts, allowing pharmacological studies...

Background Autopsy studies have provided valuable insights into the pathophysiology of COVID-19. Controversies remain whether the clinical presentation is due to direct organ damage by SARS-CoV-2 or secondary effects, e.g. by an overshooting immune response. SARS-CoV-2 detection in tissues by RT-qPCR and immunohistochemistry (IHC) or electron micro...

PurposeThe long-term use of cyproterone acetate (CPA) is associated with an increased risk of developing intracranial meningiomas. CPA discontinuation most often induces a stabilization or regression of the tumor. The underlying biological mechanisms as well as the reasons why some meningiomas still grow after CPA discontinuation remain unknown. We...

BACKGROUND Chordomas are malignant bone cancers arising from the skull-base and spine that are rare but cause devastating central nervous system morbidities. Survival is highly variable despite surgery and radiotherapy as 10% live under 1 year and 30-35% survive over 20 years. There are currently no reliable prognostic factors and this limits our a...

Background: Chordomas are rare malignant bone cancers of the skull-base and spine. Patient survival is variable and not reliably predicted using clinical factors or molecular features. This study identifies prognostic epigenetic chordoma subtypes that are detected non-invasively using plasma methylomes. Methods: Methylation profiles of 68 chordo...

Surgery plays an important role in the treatment of sinonasal cancer. Many surgical approaches have been described, including open, endoscopic, or combined approaches. The choice is based on several criteria: general criteria related to the oncological results and morbidity of each technique, specific criteria related to the tumor (tumor extensions...

Purpose Long-term use of cyproterone acetate (CPA) is associated with an increased risk of developing an intracranial meningioma. Discontinuation of CPA most often induce stabilization or regression of the tumor. The exact mechanism of regression is unknown as well as the reason why some meningiomas are still growing after CPA discontinuation.We ar...

BACKGROUND Currently, different postoperative predictors of chordoma recurrence have been identified. Tumor growth rate (TGR) is an image-based calculation that provides quantitative information of tumor's volume changing over time and has been shown to predict progression-free survival (PFS) in other tumor types. OBJECTIVE To explore the usefulne...

Objective Focal cortical dysplasia (FCD) is a major cause of difficult‐to‐treat epilepsy in children and young adults, and the diagnosis is currently based on microscopic review of surgical brain tissue using the International League Against Epilepsy classification scheme of 2011. We developed an iterative histopathological agreement trial with gen...

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog enriched in brain (RHEB) variants. The somatic variant load directly correlated with the size of the malformati...

Focal malformations of cortical development (MCD) are linked to somatic brain mutations occurring during neurodevelopment. Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a newly recognized clinico-pathological entity associated with pediatric drug-resistant focal epilepsy, and amenable to neurosur...

Résumé L’infection liée au SARS-CoV-2 entraine des lésions qui prédominent largement, mais pas exclusivement, au niveau de l’arbre respiratoire. Leur analyse a largement bénéficié des études autopsiques. Ainsi des lésions ont pu être observées dans les différents organes, tissus ou cellules de l’organisme. Ces observations ont permis d’améliorer ra...

Objective: Preoperative embolization of juvenile nasopharyngeal angiofibroma (JNA) is usually performed by the occlusion of branches of the external carotid artery (ECA). However, a significant proportion of JNAs also receive blood from the internal carotid artery (ICA). The objective of this study was to report on the feasibility and clinical imp...

We report the first case of central nervous system histoplasmosis caused by Histoplasma capsulatum var. duboisii in a patient with no underlying immunodeficiency. African histoplasmosis is an underdiagnosed endemic fungal infection which should be included in the differential diagnosis of cerebral lesions in patients originating from Western and Ce...

A distinctive feature of neocortical development is the highly coordinated production of different progenitor cell subtypes, which are critical for ensuring adequate neurogenic outcome and the development of normal neocortical size. To further understand the mechanisms that underlie neocortical growth, we focused our studies on the microcephaly gen...

L’International Society for the Study of Vascular Anomalies (ISSVA) a défini quatre lésions vasculaires du système nerveux central (SNC) : malformations artério-veineuses, cavernomes, malformations veineuses et télangiectasies. À partir de la base de données du centre hospitalier Sainte-Anne, nous avons effectué une relecture histopathologique des...

Cytomegalovirus (CMV) infection is ubiquitous and can occur as a primary infection, a reinfection, or a reactivated infection. Fetuses, very‐low‐birth‐weight and premature infants are at high risk for serious complications from congenital CMV infection, and people with compromised immune systems (organ and bone marrow transplants and acquired immun...

Toxoplasmosis is a common infection by the protozoon Toxoplasma gondii. Human infection is usually asymptomatic, but necrotizing encephalitis, focal brain mass lesions, and choroidoretinitis occur in patients who are immunocompromised, and congenital infection with encephalitis can develop in newborns infected transplacentally. The parasite is an o...

Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe pediatric refractory epilepsies subjected to neurosurgery. FCD2 are characterized by neuropathological hallmarks that include enlarged dysmorphic neurons (DNs) and balloon cells (BC...

Chordomas are slow-growing rare malignant neoplasms. The aim of this study was to establish a primary model of chordoma in the lumbosacral orthotopic area, to compare the growth rate to the subcutaneous site, and to show that this new graft site optimizes tumor growth and bony invasion. Eleven chordoma samples were transplanted subcutaneously in th...

The role of the human cytomegalovirus (HCMV) in gliomagenesis is largely debated. Contradictory data exist regarding the sensitivity and specificity of HCMV detection techniques, including immunohistochemistry (IHC), in situ hybridization (ISH), and RNA and DNA sequencing. The aim of this study is to detect HCMV in glioblastoma (GBM) tumor samples...

Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or in association with various other cerebral and or extracerebral anomalies. Unlike microcephaly for which several disease-causing genes have been identified with different modes of inheritance, the molecular bases of rhombe...

Numerous molecular alterations have been described in supratentorial high-grade gliomas (1p19q co-deletion, IDH1/2 , histone H3, hTERT promotor mutations, loss of ATRX) which have led to a new histomolecular classification of diffuse gliomas. We aimed at describing these alterations in a series of 19 adults with pure cerebellar high-grade gliomas....

Neuropathological conditions might affect adult granulogenesis in the adult human dentate gyrus. However, radial glial cells (RGCs) have not been well characterized during human development and aging. We have previously described progenitor and neuronal layer establishment in the hippocampal pyramidal layer and dentate gyrus from embryonic life unt...

Pediatric chordomas are rare malignant neoplasms, and few data are available for optimizing therapeutic strategies and outcome. This study aimed at evaluating how best to manage them and to identify prognostic factors. This multicentric retrospective study included 40 children diagnosed with chordomas between 1966 and 2012. Clinical, radiological,...

Introduction Les chordomes sont des tumeurs malignes rares dont le traitement repose actuellement sur la chirurgie et une radio/proton-thérapie adjuvante en cas de résidu tumoral. Objectifs Cette étude rétrospective a pour but : (1) de caractériser l’infiltrat inflammatoire ; (2) d’étudier l’expression des « immune checkpoint » dans une série chor...

Introduction Le méningiome à cellules claires (MCC) est un sous-type histopathologique rare de méningiome de grade II, affectant des sujets jeunes et caractérisé par son taux élevé de récidives. Récemment, des formes héréditaires familiales de MCC ont été décrites avec une mutation du gène SMARCE1. Il code pour une protéine du complexe SWI/SNF impl...

Introduction Les chordomes sont des tumeurs malignes rares d’origine notochordale, affectant exceptionnellement les enfants (moins de 5 % de l’ensemble des chordomes) et dont le potentiel évolutif est marqué par un risque important de récidives locales. Nous avons établi un grading mixte immunohistopronostique dans une série de 287 chordomes de l’a...

Due to an error in the proofs missed by the authors, the name of the author Homa Adle-Biassette was reported incorrectly as Homa Adla-Biassette. Also the citation was Adla-Biassette H instead of Adle-Biassette H. The affiliation for Dr. Adle-Biassette was incomplete and should be Department of Pathology, Lariboisiere Hospital, AP-HP, Paris, France...

To distinguish pyruvate dehydrogenase deficiency (PDH) from other antenatal neurometabolic disorders thereby improving prenatal diagnosis, we describe imaging findings, clinical phenotype, and brain lesions in fetuses from 3 families with molecular characterization of this condition. Neuropathological analysis was performed in 4 autopsy cases from...

117th Meeting of the British-Neuropathological-Society, Royal Coll Phys, London, ENGLAND, MAR 02-04, 2016

Apnea of prematurity (AOP) is considered a risk factor for neurodevelopmental disorders in children based on epidemiological studies. This idea is supported by studies in newborn rodents in which exposure to intermittent hypoxia (IH) as a model of AOP significantly impairs development. However, the severe IH used in these studies may not fully refl...

Metabotropic glutamate receptor 5 (mGluR5) is highly expressed throughout the forebrain and hippocampus. Several lines of evidence support the role of this receptor in brain development and developmental disorders, as well as in neurodegenerative disorders like Alzheimer's disease (AD). In the present study, the expression pattern of mGluR5 was inv...

The mammalian target of rapamycin (mTOR) signaling pathway is a key developmental pathway involved in mechanisms underlying cellular aging and neurodegeneration. We hypothesized that its deregulation may occur during early brain development in patients with Down syndrome (DS). The expression patterns and cellular distribution of components of mTOR...

To describe precisely prenatal ultrasound features in congenital cytomegalovirus (CMV) infection. We retrospectively evaluated the ultrasound descriptions of cases of congenital CMV infection between 2004 and 2013. In 69 congenital CMV infections, related ultrasound abnormalities were reported in 30 cases (43.5%). There were both extracerebral and...