Publications by authors named "P Arreba-Tutusaus"
Severe congenital neutropenia (CN) is an inherited pre-leukemia bone marrow failure syndrome commonly caused by autosomal-dominant ELANE mutations (ELANE-CN). ELANE-CN patients are treated with daily injections of recombinant human granulocyte colony-stimulating factor (rhG-CSF). However, some patients do not respond to rhG-CSF, and approximately 15% of ELANE-CN patients develop myelodysplasia or acute myeloid leukemia.
View Article and Find Full Text PDFMost studies on leukemia focus on leukemia cells as isolated objects without considering the bone marrow niche. Pal et al. have recreated the bone marrow niche using induced pluripotent stem cells (iPSCs), identifying CDH2 as a therapeutically druggable leukemia-promoting factor.
View Article and Find Full Text PDFArticle Synopsis
- Researchers conducted a detailed analysis to find new drugs for treating acute myeloid leukemia (AML) caused by fusion genes, specifically focusing on AML1-ETO (AE) driven AML.
- They discovered that the fusion protein AE disrupts phospholipase C (PLC) signaling, with PLCgamma 1 (PLCG1) being a vital target that affects the leukemia's self-renewal and growth.
- Inactivating PLCG1 in both mouse and human models led to reduced leukemia maintenance, while not affecting normal blood cell functions, suggesting that targeting the PLCG1 pathway could be a promising therapeutic strategy for AML1-ETO+ leukemia.
Severe congenital neutropenia (CN) is a pre-leukemic bone marrow failure syndrome that can evolve to acute myeloid leukemia (AML). Mutations in CSF3R and RUNX1 are frequently observed in CN patients, although how they drive the transition from CN to AML (CN/AML) is unclear. Here we establish a model of stepwise leukemogenesis in CN/AML using CRISPR-Cas9 gene editing of CN patient-derived iPSCs.
View Article and Find Full Text PDF