Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review.

Background: Platelet transfusion is considered the standard treatment for preventing or controlling severe haemorrhage in Glanzmann thrombasthenia (GT). However, platelet transfusion can have detrimental effects, including the production of anti-GPIIb/IIIa isoantibodies or anti-HLA antibodies (Ab) and platelet transfusion refractoriness. Recombinant activated factor VII (rFVIIa) has been proposed as an alternative treatment to platelet transfusion.

[Update on acute leukemia of ambiguous lineage in 2023 - Recommendations of the French Society for Childhood and Adolescent Cancer and Leukemia (SFCE)].

Acute leukemias of ambiguous lineage (ALAL) represent between 3 and 5% of childhood AL. This term encompasses many subtypes of AL that have been defined according to the immunophenotypic profile based on the expression of various lineage markers. This classification has been modified and enriched during the last decade thanks to the improvement of molecular biology techniques, which have led to reconsider the ontogenic proximity existing between certain forms of ALAL.

Neurotrophic tropomyosin receptor kinase (NTRK) fusion positive tumors: a historical cohort analysis.

Background: NTRK gene fusions have been identified in various tumors; some requiring aggressive therapy and sometimes new TRK inhibitors (TRKi). We aimed to describe a national, unselected, retrospective, multicenter cohort.

Research Design And Methods: Patients were identified through the French sarcoma diagnostic laboratory at Institut Curie through samples analyzed by RT-qPCR or whole-transcriptome sequencing.

Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.

Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple physiological agonists. The severity of bleeding in GT varies markedly, as does the emergency situations and complications encountered in patients. A number of emergency situations may occur in the context of GT, including spontaneous or provoked bleeding, such as surgery or childbirth.

Germline variants in paediatric patients in a French specialised centre.

Familial platelet disorder with associated myeloid malignancy (FPD-MM; OMIM 601399) is related to germline mutation. The pathogenicity of variants was initially linked to FPD-MM phenotype, but the discovery of new variants through the expansion of genetic explorations in leukaemia is questioning this assertion. In this study, we add 10 families with germline variant explored at Armand Trousseau Hospital for leukaemia diagnosis or thrombocytopenia, to the 259 described so far.