Oral Kaposi Sarcoma in two patients living with HIV despite sustained viral suppression : new clues

Kaposi sarcoma (KS) etiologically linked to Kaposi sarcoma-associated herpesvirus (KSHV) is the most common HIV associated cancer despite the generalization of antiretroviral therapy. Head, neck, and especially oral cavity are common and specific sites f

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Is there an under-representation of skin of colour images during the COVID-19 outbreak?

Non peer reviewe

Marqueurs pronostiques dans une cohorte historico-prospective de Carcinomes de Merkel

Le carcinome de Merkel est un cancer cutané de différenciation neuroendocrine rare, mais agressif, dont le facteur étiologique principal est le polyomavirus de Merkel (MCPyV). L’objectif de ce travail a été d’identifier des marqueurs virologiques et cellulaires pronostiques ou théranostiques à l’aide d’une cohorte historicoprospective de patients ayant un carcinome de Merkel. Les patients ayant des titres élevés d’anticorps dirigés contre la protéine de capside VP1 du MCPyV ont un pronostic favorable, tandis les anticorps dirigés contre les oncoprotéines virales reflètent l’évolution tumorale. Par ailleurs, il existe une hétérogénéité d’expression des récepteurs à la somatostatine dans les carcinomes de Merkel. Ce marqueur cellulaire peut constituer un outil théranostique lors de thérapies ciblées utilisant les analogues de la somatostatine. Enfin, nos travaux actuels portent sur l’évaluation de l’immunité cellulaire chez ces patients, avec une étude ayant montré la valeur pronostique du ratio neutrophiles/lymphocytes sanguin

Blood monitoring tests for Merkel Cell Carcinoma patients

International audienc

Is 5‐fluorouracil the best candidate for topical chemoprevention of skin cancers in organ transplant recipients?

International audienc

Prognostic markers and implications of MCPyV involvement in Merkel Cell Carcinoma

National audienc

Chéilites : orientation diagnostique et traitement

National audienceThe whole examination of oral cavity, other mucosae and skin is required when managing a cheilitis. Irritants (climatic, mechanical, caustic agents...) constitute the main aetiological factors of cheilitis. Allergic contact cheilitis should be investigated with a detailed anamnesis in order to search any causative agent in contact with the oral mucosae. Patch testing is required to confirm the diagnosis of delayed hypersensivity. Chronic actinic cheilitis occurs mostly in middle-aged, fair-skinned men. It is a potentially malignant condition that requires biopsies to exclude severe dysplasia or carcinoma. Angular cheilitis can occur spontaneously but is frequently related with several precipitating factors, such as systemic immune suppression, local irritation and moisture, fungal and/or bacterial infection. Cheilitis can also be seen in various systemic conditions such as lichen planus, lupus, atopic dermatitis and nutritional deficiencies. Erosive and crusty cheilitis and bullous erosive stomatitis are the main oral features of erythema multiforme and Stevens-Johnson syndrome. Granulomatous macrocheilitis (cheilitis granulomatosa) presents with intermittent or permanent lip swelling. It should be confirmed by a biopsy. It can be either isolated (Miescher macrocheilitis) or associated with various systemic conditions

La bouche, un monde inconnu ?

National audienc