How to facilitate the wider use of pharmacogenetic tests?

4P medicine (personalized, preventive, predictive, and participatory) is experiencing a remarkable rise, and pharmacogenetics is an essential part of it. However, several obstacles are hindering its deployment. This round table brought together a group of experts to take stock of the situation, reflecting on ways to facilitate the prescription of these tests and the dissemination of the results on a national scale.

Microsporidiosis in Patients with Autoimmune Diseases Undergoing Monoclonal Antibody Associated Therapy.

We present Enterocytozoon bieneusi infection in four patients with autoimmune diseases undergoing prolonged monoclonal antibody therapies. Two patients suffered from inflammatory bowel disease and received anti-TNF therapies, whereas two other patients suffered from systemic lupus erythematosus with renal involvement and received anti-CD20 or anti-BLyS protein therapies. Three out of four patients consulted for diarrhea with abdominal pain without intestinal inflammation or bleeding at the time of sampling.

T cell malignancies after CAR T cell therapy in the DESCAR-T registry.

The risk of T cell malignancies after chimeric antigen receptor (CAR) T cell therapy is a concern, although the true incidence remains unclear. Here we analyzed the DESCAR-T registry database, encompassing all pediatric and adult patients with hematologic malignancies who received CAR T cell therapy in France since 1 July 2018. Of the 3,066 patients included (2,536 B cell lymphoma, 162 B cell acute lymphoblastic leukemia (ALL) and 368 multiple myeloma), 1,680 (54.

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

The mutational landscape of TP53, a tumor suppressor mutated in about half of all cancers, includes over 2,000 known missense mutations. To fully leverage TP53 mutation status for personalized medicine, a thorough understanding of the functional diversity of these mutations is essential. We conducted a deep mutational scan using saturation genome editing with CRISPR-mediated homology-directed repair to engineer 9,225 TP53 variants in cancer cells.

Incidence and impact of other malignancies after immunochemotherapy by fludarabine, cyclophosphamide, and rituximab as frontline treatment for chronic lymphocytic leukemia: A single-center retrospective study.

Individuals with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) have a high risk of developing other malignancies (OMs). The development of OMs may be associated with the advanced age of CLL/SLL patients, presence of a tumor-promoting microenvironment, immune alterations inherent to CLL/SLL, or chemotherapy. Importantly, the occurrence of OMs following frontline fludarabine, cyclophosphamide and rituximab (FCR) treatment is associated with a reduction in the overall survival (OS).

Body composition is associated with changes in health-related quality of life in patients with knee and/or hip osteoarthritis.

Objective: The objective of this study was to analyse the association between body composition and changes in health-related quality of life (HRQoL) of patients followed for hip and knee osteoarthritis (OA).

Methods: Longitudinal data from the Knee and Hip OsteoArthritis Long-term Assessments (KHOALA) cohort, a multicentre cohort of 878 patients with symptomatic knee and/or hip OA, were used. The main outcome criteria were changes in patient-reported outcomes measures, the Study Short Form-36 (physical functioning, pain, mental health and vitality) and the OsteoArthritis Knee and Hip Quality Of Life (OAKHQOL)(physical activity, pain and mental health).

Cerebral oxygen saturation in cirrhotic patients with gastro-intestinal bleeding, a near infrared spectroscopy study.

Near Infrared Spectroscopy (NIRS) is a non-invasive optical technique allowing a continuous measurement of brain's hemoglobin (Hb) saturation in oxygen (rSO2). It is a marker of cerebral insult and rSO2 < 50% is associated with increased neurological impairment. Cirrhotic patients with gastrointestinal bleeding (GIB) often develop hepatic encephalopathy (HE).

Transjugular Intrahepatic Portosystemic Shunt (TIPS): A Bridge to Bariatric Surgery in Morbidly Obese Patients with Cirrhosis and Clinically Significant Portal Hypertension.

Background: In cirrhotic patients, portal hypertension increases mortality after surgery. We evaluated the impact of pre-operative transjugular intrahepatic portosystemic shunt (TIPS) on the outcomes of bariatric surgery in cirrhosis.

Methods: Multicentric retrospective cohort.

Brain functional imaging contributions in osteoarthritis-related pain: A viewpoint.

Objective: Neuroimaging investigations are critical to provide a more direct assessment of brain disturbances associated with osteoarthritis (OA)-related pain, and to better understand its pathophysiology to develop new treatment strategies. This viewpoint aims to summarize the importance of the brain in OA pain.

Method: A European working group on pain in osteoarthritis GO-PAIN (Going Inside Osteoarthritis-related Pain Phenotyping) has been created to work on a global assessment of the OA-related pain.

Neuroendocrine tumor discovered in a teenager following asthma misdiagnosis.

Although relatively rare, neuroendocrine tumors (NETs) represent the most common type of endobronchial tumors in pediatric patients. Their clinical presentation lacks specificity, often leading to delayed diagnosis due to limited clinical suspicion. Mainly classified as low-grade malignant tumors (grade 1), they typically demonstrate favorable outcomes following surgical removal.

[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.

Improving the generalizability of white blood cell classification with few-shot domain adaptation.

The morphological classification of nucleated blood cells is fundamental for the diagnosis of hematological diseases. Many Deep Learning algorithms have been implemented to automatize this classification task, but most of the time they fail to classify images coming from different sources. This is known as "domain shift".

Comparative analysis of the duodenojejunal microbiome with the oral and fecal microbiomes reveals its stronger association with obesity and nutrition.

The intestinal microbiota is increasingly recognized as a crucial player in the development and maintenance of various chronic conditions, including obesity and associated metabolic diseases. While most research focuses on the fecal microbiota due to its easier accessibility, the small intestine, as a major site for nutrient sensing and absorption, warrants further investigation to determine its microbiota composition and functions. Here, we conducted a clinical research project in 30 age- and sex-matched participants with ( = 15) and without ( = 15) obesity.

Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy.

Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.

Progressive chromatin rewiring by ETO2::GLIS2 revealed in a human iPSC model of pediatric leukemia initiation.

Pediatric acute myeloid leukemia frequently harbor fusion oncogenes associated with poor prognosis, including KMT2A, NUP98 and GLIS2 rearrangements. While murine models have demonstrated their leukemogenic activities, the steps from a normal human cell to leukemic blasts remain unclear. Here, we precisely reproduced the inversion of chromosome 16 resulting in ETO2::GLIS2 fusion in human induced pluripotent stem cells (iPSC).

A20 haploinsufficiency diagnosis beyond systemic lupus erythematosus: A systematic review of the literature.

Systemic lupus erythematosus (SLE) is an autoimmune disease whose pathophysiology remains incompletely understood, involving genetic and epigenetic factors. However, an increasing small subset of patients present with monogenic lupus, providing insight into the pathogenesis of the disease. This systematic review focuses on SLE associated with A20 haploinsufficiency (HA20), a monogenic disorder associated with tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3) variants.

Minimal residual disease in multiple myeloma.

Minimal Residual Disease (MRD) in multiple myeloma has emerged as a significant prognostic factor, guiding treatment strategies and enhancing patient outcomes. Despite advancements in therapies such as proteasome inhibitors, immunomodulatory drugs, monoclonal antibodies, CAR-T cell therapy, and bispecific antibodies, complete eradication of malignant plasma cells remains challenging. MRD refers to a small number of residual cancer cells that persist after treatment and require sensitive methods like next-generation flow cytometry (NGF) and next-generation sequencing (NGS) for detection.