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Publications
Publications (69)
Aims
Embryonal tumours with PLAGL1 or PLAGL2 amplification (ET, PLAGL) show substantial heterogeneity regarding their clinical characteristics and have been treated inconsistently, resulting in diverse outcomes. In this study, we aimed to evaluate the clinical behaviour of ET, PLAGL and elucidate their response pattern across the different applied...
Small intestinal neuroendocrine tumors (siNETs) are rare bowel tumors arising from malignant enteroendocrine cells, which normally regulate digestion throughout the intestine. Though infrequent, their incidence is rising through better diagnosis, fostering research into their origin and treatment. To date, siNETs are considered to be a single entit...
Triple-negative breast cancer (TNBC) remains one of the most challenging breast cancer subtypes to treat due to the lack of effective therapeutic options. Ribosome biogenesis has recently emerged as a promising therapeutic target across various cancers. Despite the current targeting of ribosome biogenesis through RNA polymerase I (RNA Pol I) inhibi...
Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers due to late diagnosis and poor therapeutic efficiency. Throughout PDAC progression, a dense extracellular matrix (ECM) is deposited around neoplastic cells and accompanies tumor development and aggressiveness. This significant stroma, both in terms of quantity and through its i...
Background
Accurate endoscopic characterization of colorectal lesions is essential to predict histology and select the best treatment strategy but remains very difficult. Instead of the recommended endoscopic characterization, many gastroenterologists routinely perform biopsies of the lesion to propose endoscopic resection with or without R0 intent...
The quest for targeted therapies is critical in the battle against cancer. The RAS/MAP kinase pathway is frequently implicated in neoplasia, with ERK playing a crucial role as the most distal kinase in the RAS signaling cascade. Our previous research demonstrated that the interaction between ERK and MYD88, an adaptor protein in innate immunity, is...
Background and study aims Accurate endoscopic characterization of colorectal lesions is essential for predicting histology but is difficult even for experts. Simple criteria could help endoscopists to detect and predict malignancy. The aim of this study was to evaluate the value of the green sign and chicken skin aspects in detection of malignant c...
All routine clinical treatments for colorectal cancer include 5-fluorouracil (5-FU), which cannot counteract recurrence and metastases formation. As the pyrimidine analog 5-FU can impact multiple pathways including both DNA and RNA metabolism, studying its mode of actions could lead to improved therapies. Using a dedicated reporter system for linea...
BACKGROUND
Embryonal tumors with PLAGL1 and PLAGL2 amplification (ET, PLAGL) display substantial clinical heterogeneity regarding applied treatment and outcomes. As a recently-defined entity, the spectrum of tumor-driving PLAG-family alterations is not yet fully elucidated.
METHODS
We analyzed clinical and MRI data from patients with ET, PLAGL. Se...
Simple Summary
Local or distant progression is possible after the resection of an intracranial hemangioblastoma. Few studies have focused on predictors of hemangioblastoma progression, especially for intracranial locations. Therefore, the aim of the present study was to precisely identify the predictors of local and distant progression in a series...
Cancer stem cells (CSCs), functionally characterized by self-renewal and tumor-initiating activity, contribute to decreased tumor immunogenicity, while fostering tumor growth and metastasis. Targeting G9a histone methyltransferase (HMTase) effectively blocks CSC functions in colorectal tumors by altering pluripotent-like molecular networks; however...
Endoscopic dissection is the first-choice treatment for superficial pT1 colorectal adenocarcinoma (sCRC). Complementary surgery decision is influenced by histopronostic factors. Prognostic significance and reproducibility of each factor are not well established. The role of immunohistochemistry (IHC) and digital pathology in this context is unknown...
Dear Editor, We read with particular attention the comment by Finsterer [1] on our retrospective study on inaugural dropped head syndrome (DHS) and camptocormia (CC) in inflammatory myopathies (IM) [2].
The limitations of our study, pointed out by the author, highlight some interesting points that can be further discussed. We agree that the retrosp...
Background
Pseudocystic inflammatory demyelinating lesions (PIDLs) are poorly described in MS and might represent a diagnostic challenge.
Objectives
We described the clinical, radiological, pathological, and follow-up characteristics of 13 PIDL in 9 MS patients.
Methods
We constituted a single-center retrospective case series of PIDLs in MS, defi...
Background:
High-grade adult-type diffuse gliomas (HGGs) constitute a heterogeneous group of aggressive tumors that are mostly incurable. Recent advances highlighting the contribution of ribosomes to cancer development have offered new clinical perspectives. Here, we uncovered that IDHwt and IDHmut HGGs display distinct alterations of ribosome bio...
Objectives:
Inaugural axial muscle involvement, defined as dropped head syndrome (DHS) and/or camptocormia (CC), is poorly described in inflammatory myopathies (IM). This study aimed to further characterize IM patients with inaugural DHS/CC, their outcome and care management.
Methods:
This retrospective study included IM patients diagnosed betwe...
Introduction:
Pancreatic ductal adenocarcinoma (PDAC) is a major public health issue with an incidence/mortality ratio reaching 98 %. Only 15-20 % of patients with PDAC can undergo surgery. Following PDAC surgical resection, 80 % of patients will experience local or metastatic recurrence of this disease. pTNM staging is the gold standard for risk...
Bone metastases of hepatocellular carcinoma (HCC) are rare and disease-revealing bone metastasis are exceptional. Here, we report the case of a 69-year-old man with a cervical vertebral metastasis of hepatocellular carcinoma. Morphological aspect of a metastatic tumor with eosinophilic and polygonal cells raises the question of the differential dia...
Introduction
Les myosites granulomateuses appartiennent au groupe des myopathies idiopathiques inflammatoires et sont caractérisées par la formation de granulomes au sein des tissus musculaires. Cette pathologie rare peut être idiopathique ou s’intégrer dans différents cadres nosologiques (maladies systémiques, néoplasie), parmi lesquels la sarcoïd...
Introduction
Gene fusion testing of ALK, ROS1, RET and NTRK as well as MET exon 14 skipping mutations is guideline recommended in non-squamous non-small cell lung carcinoma (NS-NSCLC). However, assessment is often hindered by the limited availability of tissue and prolonged next generation sequencing (NGS) testing, which can protract the initiation...
Background. Idiopathic inflammatory myopathies (IIMs) are a group of rare acquired muscular diseases. In healthy muscle, myofibers do not express major histocompatibility complex (MHC) class I and II. It was established that MHC-I positive immunostaining, although non-specific, is a marker for IIM diagnosis, while the significance of MHC-II immunos...
Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0–14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-b...
Microsatellite instability (MSI) is a molecular signature of mismatch repair deficiency (dMMR), a predictive marker of immune checkpoint inhibitor therapy response. Despite its recognized pan-cancer value, most methods only support detection of this signature in colorectal cancer. In addition to the tissue-specific differences that impact the sensi...
TGF-β signaling is involved in pancreatic ductal adenocarcinoma (PDAC) tumorigenesis, representing one of the four major pathways genetically altered in 100% of PDAC cases. TGF-β exerts complex and pleiotropic effects in cancers, notably via the activation of SMAD pathways, predominantly SMAD2/3/4. Though SMAD2 and 3 are rarely mutated in cancers,...
Objectives
Idiopathic inflammatory myopathies are mainly defined by inflammatory infiltrates within the muscle (lymphocytes and macrophages). Eosinophil muscle infiltration has been described in idiopathic eosinophilic myositis (IEM) and rarely in eosinophilic fasciitis (EF). This study aimed to further delineate the nosological frame of idiopathic...
Brain invasion has not been recognized as a standalone criterion for atypical meningioma by the WHO classification until 2016. Since the 2007 edition suggested that meningiomas harboring brain invasion could be classified as grade 2, brain invasion study was progressively strengthened in our center, based on a strong collaboration between neurosurg...
Alzheimer's disease (AD) is characterized by intracerebral accumulations of extracellular amyloid-β (Aβ) plaques and intracellular tau pathology that spread in the brain. Three types of tau lesions occur in the form of neuropil threads, neurofibrillary tangles, and neuritic plaques i.e. tau aggregates within neurites surrounding Aβ deposits. The ca...
The differentiation between reactive mesothelial hyperplasia (RMH) and diffuse malignant peritoneal mesothelioma (DMPM) is challenging especially when applied on peritoneal small samples. The use of BRCA-associated protein 1 (BAP1) and methylthioadenosine phosphorylase (MTAP) immunostains is familiar to identify malignant mesothelial proliferation....
Introduction:
Endoscopic submucosal dissection (ESD) is potentially a curative treatment of T1 colorectal cancer in certain condition. The aim of the study was to evaluate the feasibility and effectiveness of ESD on lesions with suspicion of focal deep invasion.
Methods:
In this retrospective multicenter study, consecutive patients with colorect...
Background
The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of diseases that can affect the muscles, skin, lungs, heart, and joints. Increase knowledge about histopathological findings, clinical manifestations and auto-antibodies have allowed further novel classification of IIMs. Today, the main IMs subgroups are: dermatomyos...
Background
Idiopathic inflammatory myopathies (IIMs) constitute a group of acquired muscular diseases that occur during childhood and adulthood, exhibit a variety of phenotypes and are potentially life-threatening. IIM diagnosis considers clinical, serological, and histological data. Muscle pathological analysis of IIM patients gives relevant eleme...
Introduction
Les lésions pseudo-kystiques (LPK) de sclérose en plaques (SEP) sont définies en IRM comme extensives, non infiltrantes, d’aspect kystique, bien délimitées par une bordure régulière. C’est une entité radiologique atypique et rare.
Objectifs
Étudier les caractéristiques épidémiologiques, cliniques, biologiques, radiologiques et anatomo...
Portal hypertension (PH) is one of the most severe complications of chronic liver diseases. It is defined as an increase in pressure in the portal venous system which results in a portosystemic gradient >5 mmHg. In the western world, cirrhosis is the most frequent cause of PH, mainly due to nonalcoholic fatty liver disease and alcoholic liver disea...
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. Here, we report 11 cases of central...
5-Fluorouracil (5-FU) is a chemotherapeutic drug widely used to treat patients with solid tumours, such as colorectal and pancreatic cancers. Colorectal cancer (CRC) is the second leading cause of cancer-related death and half of patients experience tumour recurrence. Used for over 60 years, 5-FU was long thought to exert its cytotoxic effects by a...
Introduction
Les myopathies idiopathiques inflammatoires (MIIs) sont un groupe hétérogène de pathologies caractérisé par une atteinte musculaire inflammatoire et des atteintes extra-musculaires variables. Plusieurs sous-groupes de MIIs sont définis à partir d’éléments anatomopathologiques, immunologiques et cliniques : la dermatomyosite, la myosite...
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that has only been reported in the central nervous system in case reports. After surgery, patients exhibit tumor recurrence. Pathological diagnosis of AHF remains difficult, especially in sites other than skin. AFH can harbor characteristic translocations implying that the Ewing sar...
Deep infiltrating endometriosis frequently affects the rectosigmoid region. It clinically presents as a chronic painful condition affecting women in their reproductive time. Here, we present a case of a 28-yr-old female patient who had a history of dysmenorrhea, dyspareunia, chronic abdominal and pelvic pain, and constipation secondary to rectal wa...
Background
Extragonadal germ cell tumors (GCTs) are thought to arise as a result of local transformation of primordial gonadal cells (PGCs) that become misplaced during embryogenesis. With the exception of bilateral testis tumors, metachronous GCT (i.e., occurring at a site classically described for primary GCTs) are rare events.
Patients and Meth...
Many studies have focused on understanding the regulation and functions of aberrant protein synthesis in colorectal cancer (CRC), leaving the ribosome, its main effector, relatively underappreciated in CRC. The production of functional ribosomes is initiated in the nucleolus, requires coordinated ribosomal RNA (rRNA) processing and ribosomal protei...
Many studies have focused on understanding the regulation and functions of aberrant protein synthesis in colorectal cancer (CRC), leaving the ribosome, its main effector, relatively underappreciated in CRC. The production of functional ribosomes is initiated in the nucleolus, requires coordinated ribosomal RNA (rRNA) processing and ribosomal protei...
Solitary fibrous tumor (SFT) represents only 0.08% of all primary bone tumors and 0.1% of primary malignant bone tumors and rarely occurs in the spine. We present the case of a 56-year-old woman with long term recurrence (11 years) of spinal SFT involving T8 vertebral body. We performed a total resection of the lesion and spinal fusion T6-T11 with...
Background:
Biopsies in patients with a suspected glioma are occasionally nondiagnostic.
Objective:
To explore the utility of molecular testing in this setting by determining whether IDH1 and TERT promoter (pTERT) mutations could be detected in nondiagnostic biopsies from glioma patients.
Methods:
Using SNaPshot polymerase chain reaction, we r...
Small nucleolar RNAs (snoRNAs) are non-coding RNAs localized in the nucleolus, where they participate in the cleavage and chemical modification of ribosomal RNAs. Their biogenesis and molecular functions have been extensively studied since their identification in the 1960s. However, their role in cancer has only recently started to emerge. In lung...
The original version of this article contained an error in the name of one of the co-authors (Kayvan Mohkam). This has been corrected in the PDF and HTML versions.
Pancreatic ductal adenocarcinoma (PDAC) is one of the solid tumors with the poorest prognosis. The stroma of this tumor is abundant and composed of extracellular matrix and stromal cells (including cancer-associated fibroblasts and immune cells). Nerve fibers invading this stroma represent a hallmark of PDAC, involved in neural remodeling, which pa...
During the last two decades, neuropathological examination of the brain has evolved both technically and scientifically. The increasing use of immunohistochemistry to detect protein aggregates paralleled a better understanding of neuroanatomical progression of protein deposition. As a consequence, an international effort was achieved to standardize...
Infantile hemangioma (IH) is the most common benign vascular tumor of infancy, occurring predominantly in the head and neck. It is characterized by specific endothelial expression of glucose transporter-1 (GLUT-1) and involution with time, spontaneous or on beta-blockers treatment. Although some predisposing factors are known, the exact pathogenesi...
Objective
To report the clinical features and long-term outcome of 22 newly diagnosed paraneoplastic patients with GABAB receptor antibodies (GABABR-Abs).
Methods
Retrospective clinical study of CSF-confirmed cases of GABABR-Abs encephalitis.
Results
We identified 22 patients (4 female) with GABABR-Abs, with a median age of 64 years (range 55–85)...
Background:
Adult IDH-wildtype astrocytomas with TERT promoter mutations (TERTp) are associated with a poor prognosis.
Objective:
To analyze the radiological presentation and natural history of adult IDH-wildtype astrocytomas with TERTp.
Methods:
We retrospectively reviewed the characteristics of 40 IDH-wildtype TERTp-mutant astrocytomas (grad...
BACKGROUND
Adult IDH-wildtype astrocytomas with TERT promoter mutations (TERTp) are associated with a poor prognosis. The aim of the present study was to analyze their radiological presentation and natural history.
METHODS
We retrospectively reviewed the characteristics of 40 IDH-wildtype TERTp-mutant astrocytomas (grade II n=19, grade III n=21) a...
BACKGROUND
Non-diagnostic biopsies are a recurrent issue in patients with a suspected brain tumor. Herein, in order to explore the utility of molecular testing in this setting, we determined whether IDH and TERT promoter (pTERT) mutations can be detected in non-diagnostic biopsies from glioma patients.
METHODS
Using Snapshot PCR, we retrospectivel...