A5079993069- Lymphoma Diagnosis and Treatment
- Viral-associated cancers and disorders
- Sarcoma Diagnosis and Treatment
- CNS Lymphoma Diagnosis and Treatment
- Tumors and Oncological Cases
- Congenital Diaphragmatic Hernia Studies
- Congenital Anomalies and Fetal Surgery
- Chronic Lymphocytic Leukemia Research
- Neuroblastoma Research and Treatments
- Gastrointestinal Tumor Research and Treatment
- Histiocytic Disorders and Treatments
- Ear and Head Tumors
- Healthcare Systems and Practices
- Medical Imaging and Pathology Studies
- Neonatal Respiratory Health Research
- Gastrointestinal disorders and treatments
- Soft tissue tumor case studies
- Eosinophilic Disorders and Syndromes
- Immunodeficiency and Autoimmune Disorders
- Genetic factors in colorectal cancer
- Neurofibromatosis and Schwannoma Cases
- Teratomas and Epidermoid Cysts
- Vascular Malformations and Hemangiomas
- Sexual Differentiation and Disorders
- Cancer Genomics and Diagnostics
Hôpital Armand-Trousseau
2011-2024
Sorbonne Université
2014-2024
Assistance Publique – Hôpitaux de Paris
2012-2024
Hôpital d'Enfants
2007-2020
Roche (France)
2010-2015
Université Paris Cité
2002
Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAF(V600E) mutation occurs frequently, but significance remains to be determined.BRAF(V600E) was investigated French LCH cohort. We analyzed associations between status presentation, extent disease, reactivation rate, response therapy, long-term permanent sequelae.Among 315 patients successfully determined BRAF status, 173 (54.6%)...
Carbon nanotube (CNT) materials are of special interest as potential tools for biomedical applications. However, available toxicological data concerning single-walled carbon nanotubes (SWNTs) and multiwalled (MWNTs) remain contradictory. Here, we compared the effects SWNTs a function dose, length, surface chemistry in Swiss mice. Transmission electron microscopy (TEM), Raman, near-infrared (NIR), X-ray photoelectron spectroscopies have been used to characterize tested materials. The dose...
Compelling evidence shows that fine particulate matters (PMs) from air pollution penetrate lower airways and are associated with adverse health effects even within concentrations below those recommended by the WHO. A paper reported a dose-dependent link between carbon content in alveolar macrophages (assessed only optical microscopy) decline lung function. However, to best of our knowledge, PM had never been accurately characterized inside human cells most responsible components mix still...
Abstract The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non‐Langerhans cell histiocytosis (‐LCH) subtypes. A cohort 415 children with from the French registry was reviewed analyzed BRAF V600E . Most WT samples were by next‐generation sequencing (NGS) a custom panel genes myeloid neoplasia. Of case samples, there 366 LCH, 1 Erdheim‐Chester disease, 21 Rosai‐Dorfman disease (RDD), juvenile xanthogranuloma...
Research Article8 January 2018Open Access Source DataTransparent process Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility Sarah Winter Laboratory Lymphocyte Activation and Susceptibility EBV infection, Inserm UMR 1163, Paris, France Imagine Institut, University Paris Descartes Sorbonne Cité, Search for more papers by this author Emmanuel Martin David Boutboul Christelle Lenoir Sabah Boudjemaa Department Pathology, Armand Trousseau Hospital,...
Objectives/Hypothesis To analyze clinical presentations, treatment modalities, and evolution of pediatric cases salivary gland carcinomas to standardize care for these rare diseases. Study Design Multicentric, retrospective study. Methods We included in this study all children adolescents (aged ≤18 years) treated from 1992 2012 six centers Paris, France. Pathological tumor specimens were reviewed. Results Forty‐three (sex ratio male/female = 19/24, median age 13 years). The parotid was the...
Tufting enteropathy (TE) is a congenital abnormality of intestinal mucosa development characterized by severe failure requiring parenteral nutrition (PN) and, in some cases, small bowel transplantation. A few patients have had more favorable outcome. The objective this study was to evaluate possible correlations between histological lesion severity duodenal biopsies and clinical outcomes children with TE.We retrospectively reviewed the records diagnosed TE 1993 2003 at our institution based...
<b>Introduction</b> After surgical repair of gastroschisis, most neonates exhibit severe intestinal dysmotility. We hypothesized that impaired development the enteric nervous system or interstitial cells Cajal (ICC) network contributes to motility in gastroschisis. evaluated this hypothesis a rat model <b>Material and Methods</b> Gastroschisis was created surgically fetuses on gestational day 18, under general anesthesia, small bowel harvested 22. Intestinal weight-to-length (IW/L) ratio,...
Abstract Background Inflammatory myofibroblastic tumors (IMT) are rare, intermediate malignant harboring frequent somatic molecular rearrangements. The management of IMT has not been standardized. Methods A retrospective multicenter study was conducted on all pediatric patients treated for between 2000 and 2019. Results This series included 39 cases IMT, with a median age at diagnosis 7 years (range 20 days to 16 years). Tumor location pelvis‐abdomen ( n = 16), thorax 14), head neck 7),...
We reviewed 77 cases considered as lymphocytic lymphomas of intermediate differentiation or diffuse centrocytic lymphomas. Forty-five were diagnosed mantle cell lymphoma (MCL). The architectural pattern was in 95%, 8 presented large blastoid cells and CD5 positivity observed 28/34 cases. Of 20 studied, a t(11;14)(q13;q32). Patient characteristics were: median age 59 years, B symptoms 38%, 87% stages 111-IV, bone marrow involvement 67% with peripheral leukemic 24%. Forty-four patients treated...
Summary Advanced stage nodular lymphocyte predominant Hodgkin lymphoma ( nLPHL ) is extremely rare in children and as a consequence, optimal treatment for this group of patients has not been established. Here we retrospectively evaluated the treatments outcomes 41 our from UK France with advanced . Most received chemotherapy, some addition anti CD 20 antibody rituximab or radiotherapy. Chemotherapy regimens were diverse followed either classical B non‐Hodgkin protocols. All achieved complete...
Effective biomarkers predictive of the response to treatments are key for precision medicine. This study identifies staining pattern centromeric histone 3 variant, CENP-A, as a biomarker locoregional disease curability by chemoradiation therapy. We compared imaging subnuclear distribution CENP-A in normal and tumoral tissues, retrospective biopsies 62 locally advanced head neck squamous cell carcinoma (HNSCC) patients treated looked factors control patient’s survival, including patterns,...
A 29-year-old primigravida presented with a spontaneous miscarriage at 8 weeks of gestation. There was no consanguinity in the family. Aspiration performed. Pathological examination showed immature villi numerous slightly yellow intracytoplasmic inclusions within early implantation stage cytotrophoblastic cells. Inclusions were periodic acid–Schiff and Alcian blue positive partially amylase. Diagnosis Glycogen storage disease type IV (GSD IV) made. Genetic analysis glycogen branching enzyme...
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused weakly virulent species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, IRF8) 2 X-linked NEMO CYBB) have been identified. Allelic heterogeneity leaded recognize about 18 genetic diseases with variable...
The nonfamilial Carney triad includes paraganglioma, gastrointestinal stromal tumor (GIST), and pulmonary chondroma. Some paraganglioma-GIST diads are familial inherited in an apparent autosomal dominant manner. syndrome differs from the by absence of female predilection predominance paragangliomas. We report cases a 12-year-old boy with paraganglioma organ Zuckerkandl, his 13-year-old monozygotic twin gastric GIST. These two patients, to our knowledge, first be reported as likely having...
The PIWI proteins emerging in the development of human cancers, edify PIWI-piRNA ribonucleoproteic complexes acting as pivotal regulators genome integrity, differentiation and homeostasis. aim this study is to analyze four PIWILs gene expression invasive breast carcinomas (IBCs): at RNA level using quantitative RT-PCR (n = 526) protein immunohistochemistry 150). In normal tissue, 2 4 were solely expressed, whereas an abnormal emergence PIWIL1 3 was observed respectively 30% 6% IBCs....