Real-World Outcomes of Pralsetinib in RET Fusion-Positive NSCLC.

Introduction: Pralsetinib is a RET inhibitor found to have antitumor activity in advanced, metastatic, fusion-positive NSCLC.

Objective: To assess real-world efficacy of pralsetinib and treatment sequences in patients with RET fusion-positive NSCLC.

Design: Retrospective study of consecutive patients enrolled in the French expanded-access program for pralsetinib from December 1, 2019, to December 31, 2021.

Effectiveness and safety of biosimilars in pediatric inflammatory bowel diseases: an observational longitudinal study on the French National Health Data System.

Background: Data on biosimilar use in pediatric inflammatory bowel diseases (IBD) are scarce compared to the status of studies in adults, resulting in limitations in its treatment. We compared effectiveness and safety of biosimilars versus originators in this population.

Methods: We used data from the French National Health Data System to identify children (less than 18 years old at treatment initiation) initiating treatment with a biosimilar or the originator infliximab or adalimumab for Crohn's disease (CD) or ulcerative colitis (UC), from first biosimilar launch (January 2015 and October 2018, respectively) to 31 December 2022.

Stratification system with dual human endogenous retroviruses for predicting immunotherapy efficacy in metastatic clear-cell renal cell carcinoma.

Background: Endogenous retrovirus (ERV) elements are genomic footprints of ancestral retroviral infections within the human genome. While the dysregulation of ERV transcription has been linked to immune cell infiltration in various cancers, its relationship with immune checkpoint inhibitor (ICI) response in solid tumors, particularly metastatic clear-cell renal cell carcinoma (ccRCC), remains inadequately explored.

Methods: This study analyzed patients with metastatic ccRCC from two prospective clinical trials, encompassing 181 patients receiving nivolumab in the CheckMate trials (-009 to -010 and -025) and 48 patients treated with the ipilimumab-nivolumab combination in the BIONIKK trial.

Therapeutic novelties in acute heart failure and practical perspectives.

Acute Heart Failure (AHF) is a leading cause of death and represents the most frequent cause of unplanned hospital admission in patients older than 65 years. Since the past decade, several randomized clinical trials have highlighted the importance and pivotal role of certain therapeutics, including decongestion by the combination of loop diuretics, the need for rapid goal-directed medical therapies implementation before discharge, risk stratification, and early follow-up after discharge therapies. Cardiogenic shock, defined as sustained hypotension with tissue hypoperfusion due to low cardiac output and congestion, is the most severe form of AHF and mainly occurs after acute myocardial infarction, which can progress to multiple organ failure.

Cardiogenic shock in patients with active onco-hematological malignancies: A multicenter retrospective study.

Purpose: Onco-hematological (OH) patients face significant cardiovascular risks due to malignancy and drug toxicity. Data are limited on the characteristics and outcomes of OH patients with cardiogenic shock (CS) in intensive care units (ICUs).

Methods: This multicenter retrospective study included 214 OH patients with CS across 22 ICUs (2010-2021).

A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.

Objective: We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.

Characteristics and outcomes of patients with LAM receiving sirolimus in France based on real-life data.

LAM is a rare multi-cystic lung disease for which treatment with sirolimus is indicated in cases of moderate or severe lung disease or declining lung function. The aim of this study was to describe patients treated with sirolimus for LAM and their outcomes. This retrospective observational study was based on data from the French national health insurance data system (SNDS).

Multimodal treatment improves survival in patients with lung metastases from colorectal cancer: A network meta-analysis.

Aim: The lungs represent the second most common site of colorectal cancer metastases. Although surgery is commonly considered the best treatment, many other invasive and noninvasive procedures and treatments have been adopted to improve patient survival and there is no clear evidence in the literature of which is the more effective. The aim of this work was to identify which treatment confers the best gain in overall survival for patients with pulmonary metastases from colorectal cancer.

Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.

Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

Short-term modification of breathprint by Elexacaftor/Tezacaftor/Ivacaftor in a paediatric cohort.

Background: The triple combination Elexacaftor/Tezacaftor/Ivacaftor (ETI) translates into major respiratory improvements in adults; yet current clinical endpoints may prove insufficiently sensitive in young children. We hypothesised that ETI rapidly modifies the lungs' metabolism, resulting in changes in breath composition.

Methods: Eleven children with CF were enrolled in a longitudinal pilot study at the paediatric Necker hospital.

Impact of Sjögren's disease on quality of sexual life using the Qualisex score.

Objective: This study aimed to assess the impact of Sjögren disease (SjD) on the quality of sexual life and its determinants using the Qualisex questionnaire.

Methods: The Qualisex questionnaire was administered to participants within the ASSESS cohort, a French national multicentric prospective cohort of individuals with SjD. Patients' characteristics and psychometric evaluations were also collected.

NATURAL HISTORY OF MEDULLARY THYROID CARCINOMA IN MEN-2 PATIENTS CARRYING A VARIANT AT CODON 804 IN THE RET PROTO-ONCOGENE: A STUDY BY THE FRENCH NEUROENDOCRINE TUMOR GROUP (GTE).

Background: RET variants affecting codon 804 are part of the low-to-moderate risk group in the ATA classification, with indications for prophylactic thyroidectomy beyond age of 5 years. However, aggressiveness seems to be variable. The objective of this study was to report a large cohort of French carriers of a pathogenic variant at codon 804 in the RET proto-oncogene.

Detection of clinically relevant variants in the gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.