Introduction: Molecular profiling has become essential in the management of patients with biliary tract cancer (BTC). The aim of this study was to evaluate the practices of French genetics platforms in the management of BTCs.
Methods: A survey was developed by a multidisciplinary group and distributed to each of the 28 French genetics platforms over a one-month period.
Results: Twenty-one platforms answered the survey (75%). A majority (62%) had performed more than 50 analyses for BTCs over the last two years, with an average turnaround time for results evaluated between 11 and 15 days for 62% of them. Three quarters (76%) of the platforms performed both DNA and RNA analysis, while a quarter (24%) performed RNA analysis only. A commercial panel was used by 50% of platforms for DNA analysis, and 80% for RNA. Panels included between 10 and 50 genes for 76% of platforms. All responding platforms systematically tested for IDH1 mutations, FGFR2 fusions and BRAF mutations. A majority systematically tested for HER2 amplification, MSI status and TP53 mutation (88%, 81% and 69% respectively).
Discussion: This national survey of French genetics platforms shows good performance and compliance with recommendations for molecular analysis. However, many medical, financial and organizational obstacles remain upstream of these platforms.
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http://dx.doi.org/10.1016/j.bulcan.2024.08.013 | DOI Listing |
Mycoses
January 2025
Unité de Parasitologie-Mycologie, Département de Prévention, Diagnostic et Traitement Des Infections, CHU Henri Mondor, Assistance Publique Des Hôpitaux de Paris (APHP), Creteil, France.
Background: The airways of patients with cystic fibrosis (pwCF) harbour complex fungal and bacterial microbiota involved in pulmonary exacerbations (PEx) and requiring antimicrobial treatment. Descriptive studies analysing bacterial and fungal microbiota concomitantly are scarce, especially using both culture and high-throughput-sequencing (HTS).
Objectives: We analysed bacterial-fungal microbiota and inter-kingdom correlations in two French CF centres according to clinical parameters and antimicrobial choices.
Rev Med Liege
January 2025
Service d'Endocrinologie, CHU Liège, Belgique.
In 1849, Thomas Addison discovered alterations in the adrenal glands at autopsy of three patients who had died with idiopathic anemia. Struck by Addison's work, Charles-Edouard Brown-Séquard demonstrated in 1851 that bilateral adrenalectomy in dogs was fatal. It was not until 1950 that the discovery of the hormones of the adrenal cortex, their structure and their biological effects allowed Kendall, Reichstein and Hench to win the Nobel Prize in Physiology or Medicine.
View Article and Find Full Text PDFRev Med Liege
January 2025
Service de Sénologie, CHU Liège, Belgique.
Breast cancer is a complex disease influenced by genetic and environmental factors. Molecular profiling research has revealed significant diversity within the disease, including among tumours with similar morphological features. This diversity can lead to significant differences in tumour behaviour.
View Article and Find Full Text PDFGenome-wide association studies (GWAS) have identified genetic variants robustly associated with asthma. A potential near-term clinical application is to calculate polygenic risk score (PRS) to improve disease risk prediction. The value of PRS, as part of numerous multi-source variables used to define asthma, remains unclear.
View Article and Find Full Text PDFNat Commun
January 2025
EMBL Grenoble, 71 Avenue des Martyrs, Grenoble, France.
Kinetoplastids are a clade of eukaryotic protozoans that include human parasitic pathogens like trypanosomes and Leishmania species. In these organisms, protein-coding genes are transcribed as polycistronic pre-mRNAs, which need to be processed by the coupled action of trans-splicing and polyadenylation to yield monogenic mature mRNAs. During trans-splicing, a universal RNA sequence, the spliced leader RNA (SL RNA) mini-exon, is added to the 5'-end of each mRNA.
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