Pulmonary Consequences of Surgical Treatment in Children's Primary Lung Tumors: A National Retrospective Study.

Background And Aims: Primary lung tumors (PLTs) in children are rare, and surgery remains the key to ensure remission. Here we describe the PLTs clinical characteristics, their management, and the pulmonary outcome following surgery.

Methods: We carried out a French national cohort of pediatric PLTs from 2013 to 2023 from the FRACTURE rare pediatric tumors national database.

Evaluation of rheumatoid arthritis-associated interstitial lung disease in patients treated with JAK inhibitors: a MAJIK-SFR cohort study.

Objective: To examine the course of interstitial lung disease associated with rheumatoid arthritis (RA-ILD) in France on treatment with Janus kinase inhibitors (JAKis) using the MAJIK-SFR registry.

Methods: Prospective national multicentre observational study identifying patients with RA-ILD from the MAJIK-SFR registry. Pulmonary assessment data were collected at JAKi initiation and follow-up visits (6 months, 12 months and a median of 21 months postinclusion), including chest high-resolution CT (HRCT), pulmonary function tests (forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO)), acute exacerbations of ILD, respiratory infections and lung cancers.

Iberdomide, ixazomib and dexamethasone in elderly patients with multiple myeloma at first relapse.

Most transplant-ineligible patients present with multiple myeloma (MM) refractory to lenalidomide and/or anti-CD38 monoclonal antibody at first relapse and represent a difficult-to-treat population. The Intergroupe Francophone du Myélome phase 2 study iberdomide, ixazomib and dexamethasone (I2D) evaluated the oral triplet iberdomide, ixazomib and dexamethasone in MM patients aged ≥70 years at first relapse (NCT04998786). Seventy patients were enrolled to receive iberdomide (1.

Myotilin gene duplication causing late-onset myotilinopathy.

Background: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration. Most reported cases are due to dominant missense mutations in the MYOT gene, two of which are largely recurrent.

Photoresponsive Helical Foldamers: Conformational Control through Double Helix Formation and Light-Induced Protonation.

Helical foldamers constitute particularly relevant targets in the field of host-guest chemistry, be that as hosts or substrates. In this context, the strategies reported so far to control the dimensions and shape of foldamers mainly involve modifications of the skeleton through covalent synthesis. Herein, we prepared an oligopyridine dicarboxamide foldamer substituted by photo-active tetraphenylethylenes (TPE).

Single-cell data reveal heterogeneity of investment in ribosomes across a bacterial population.

Ribosomes are responsible for the synthesis of proteins, the major component of cellular biomass. Classical experiments have established a linear relationship between the fraction of resources invested in ribosomal proteins and the rate of balanced growth of a microbial population. Very little is known, however, about how the investment in ribosomes varies over individual cells in a population.

Interest and limits of using pharmacogenetics in MDMA-related fatalities: A case report.

Interpreting postmortem concentrations of 3,4-Methylenedioxymethamphetamine (MDMA) remains challenging due to the wide range of reported results and the potential idiosyncratic nature of MDMA toxicity. Consequently, forensic pathologists often rely on a body of evidence to establish conclusions regarding the cause and the manner of death in death involving MDMA. Given these issues, implementing pharmacogenetics' (PGx)' testing may be beneficial.

A Prospective Non-interventional Real-World Study of cabozantinib in Pretreated Patients With Advanced Renal Cell Carcinoma Refractory to Vascular Endothelial Growth Factor-Targeted Therapy (CASSIOPE).

Background: There is a lack of published data on real-world cabozantinib use in patients with advanced renal cell carcinoma after prior vascular endothelial growth factor (VEGF)-targeted therapy.

Methods: CASSIOPE was a real-world, prospective, multicenter, non-interventional postauthorization safety study of cabozantinib in adult patients with advanced renal cell carcinoma in Europe following prior VEGF-targeted treatment (NCT03419572). Endpoints included cabozantinib utilization (dose modifications due to adverse events [AEs; primary endpoint], dose, dose modifications, and treatment duration), safety, effectiveness (progression-free survival [PFS], overall survival [OS], best overall response [BOR]), and healthcare resource utilization.

The endoplasmic reticulum as a cradle for virus and extracellular vesicle secretion.

Extracellular vesicles (EVs) are small membranous carriers of protein, lipid, and nucleic acid cargoes and play a key role in intercellular communication. Recent work has revealed the previously under-recognized participation of endoplasmic reticulum (ER)-associated proteins (ERAPs) during EV secretion, using pathways reminiscent of viral replication and secretion. Here, we present highlights of the literature involving ER/ERAPs in EV biogenesis and propose mechanistic parallels with ERAPs exploited during viral infections.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial.

Epistaxis greatly affects patients with hereditary hemorrhagic telangiectasia (HHT). Although few systemic treatment exist, nintedanib, is a good candidate thanks to its anti-angiogenic activity. Our main objective was to evaluate the efficacy of oral nintedanib on epistaxis duration in HHT patients with moderate to severe epistaxis.

[Updates on hairy cell leukemia (HCL) and HCL-like disorders].

Hairy cell proliferations represent very different entities. They include hairy cell leukemia in its classic form (HCL), a well-defined entity, but also the variant form of HCL (LT-V ou HCL-V), whose presentation is far from HCL and whose prognosis is poorer. Other hairy cell proliferations include splenic red pulp lymphoma (SDRPL) and splenic marginal zone lymphomas (SMZL) with circulating villous cells.

Spinal muscular atrophy is also a disorder of spermatogenesis.

Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.

Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.

[Patients' perceptions of teleconsultation in long-term follow-up after pediatric cancer].

For the past decade, "long-term follow-up consultations" have been established for adults cured of pediatric cancer to ensure the prevention, early detection, and treatment of long-term effects. These consultations are now sometimes conducted in the form of teleconsultations, a practice that has seen significant growth following the COVID-19 crisis. The objective of this study was to evaluate the satisfaction, usefulness, and patient experience of teleconsultations conducted by an oncologist or hematologist as part of the long-term follow-up of adults cured of pediatric cancer.

Primary central nervous system lymphoma of the spinal cord: A LOC network cohort study.

Purpose: Primary central nervous system lymphoma (PCNSL) mainly affects the brain (>90% cases); there are very little data pertaining to PCNSL involving the spinal cord.

Methods: We retrospectively selected from the French LOC network database adult immunocompetent patients diagnosed with PCNSL involving the spinal cord between 2011 and 2022.

Results: Of the 2043 patients records retrieved from the database, 16 patients (median age: 62.

Transcriptional regulation of KCNA2 coding Kv1.2 by EWS::FLI1: involvement in controlling the YAP/Hippo signalling pathway and cell proliferation.

Background: Ewing sarcoma (ES), the second main pediatric bone sarcoma, is characterised by a chromosomal translocation leading to the formation of fusion proteins like EWS::FLI1. While several studies have shown that potassium channels drive the development of many tumours, limited data exist on ES. This work therefore aimed to study the transcriptional regulation of KCNA2 and define the involvement of the Kv1.

[A 2024 inventory in oncology news].

The editorial board of the Bulletin du Cancer has compiled a summary of the news from 2024 in oncology, based on the main results presented at international congresses or published over the past year. After a year marked by the success of the Olympic Games, the selection of data is presented and discussed in podiums of three main results by topic. Emphasis is placed on studies that have an immediate impact on practice and on data that raise important questions for the year 2025.

A new generation of non-invasive tests of liver fibrosis with improved accuracy in MASLD.

Background & Aims: The accuracy of non-invasive tests (NITs) should be ≥80% (EASL recommendation). We aimed to compare the accuracies of the recommended NITs for advanced fibrosis in MASLD and improve NIT accuracy.

Methods: 1051 MASLD patients were allocated to derivation (n=637) and validation (n=414) sets.

Efficacy and Tolerability of Tebentafusp in Metastatic Uveal Melanoma: A Real-life Retrospective Multicentre Study.

Metastatic uveal melanoma is a rare disease with a poor prognosis. Usual treatments have not proven effective. Tebentafusp, a bispecific protein targeting melanoma cells and T lymphocytes, is the first approved treatment with a proven survival benefit in a randomized clinical.

Associations between pre-operative iron deficiency and postoperative infection in patients undergoing major surgery (CARIPO): a prospective observational study.

Introduction: Iron deficiency, with or without anaemia, is common during the peri-operative period. It has been hypothesised that pre-operative iron deficiency is associated with an increased incidence of postoperative infection. We designed the CARIPO prospective observational study to assess the incidence of postoperative infection in patients with and without iron deficiency undergoing a variety of major surgeries.

Relationship between donor source, pre-transplant measurable residual disease, and outcome after allografting for adults with acute myeloid leukemia.

Lack of HLA-matched related/unrelated donor remains a barrier to allogeneic hematopoietic cell transplantation (HCT) for adult acute myeloid leukemia (AML), with ongoing uncertainty about optimal donor type if more than one alternative donor is available. To assess the relationship between donor type, pre-HCT measurable residual disease (MRD), and post-HCT outcomes, we retrospectively analyzed 1265 myelodysplastic neoplasm (MDS)/AML and AML patients allografted in first or second remission with an HLA-matched sibling (MSD) or unrelated donor (MUD), HLA-mismatched unrelated donor (MMD), an HLA-haploidentical donor, or umbilical cord blood (UCB) at a single institution. Relapse risk was non-significantly higher after HLA-haploidentical and lower after UCB HCT.