u-0126 and Histiocytosis--Langerhans-Cell

u-0126 has been researched along with Histiocytosis--Langerhans-Cell* in 1 studies

Other Studies

1 other study(ies) available for u-0126 and Histiocytosis--Langerhans-Cell

Article	Year
Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis. Pediatric blood & cancer, 2018, Volume: 65, Issue:9 Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. We evaluated a patient with treatment-refractory LCH for mutations in the RAS-RAF-MEK-ERK pathway and identified a novel mutation in the MAP2K1 gene resulting in a p.L98_K104 > Q deletion and predicted to be auto-activating. During treatment with the MEK inhibitor trametinib, the patient's disease showed significant progression. In vitro characterization of the MAP2K1 p.L98_K104 > Q deletion confirmed its effect on cellular activation of the ERK pathway and drug resistance. Topics: Adolescent; Adrenal Cortex Hormones; Butadienes; Combined Modality Therapy; Cytarabine; Disease Progression; Drug Resistance; Drug Therapy, Combination; Enzyme Activation; Exons; HEK293 Cells; Hematopoietic Stem Cell Transplantation; Histiocytosis, Langerhans-Cell; Humans; Male; MAP Kinase Kinase 1; MAP Kinase Signaling System; Molecular Targeted Therapy; Mutation; Nitriles; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Pyrazoles; Pyridones; Pyrimidinones; Recombinant Fusion Proteins; Sequence Deletion; Thiophenes; Vincristine	2018

Article

Year

Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis.

Pediatric blood & cancer, 2018, Volume: 65, Issue:9

Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. We evaluated a patient with treatment-refractory LCH for mutations in the RAS-RAF-MEK-ERK pathway and identified a novel mutation in the MAP2K1 gene resulting in a p.L98_K104 > Q deletion and predicted to be auto-activating. During treatment with the MEK inhibitor trametinib, the patient's disease showed significant progression. In vitro characterization of the MAP2K1 p.L98_K104 > Q deletion confirmed its effect on cellular activation of the ERK pathway and drug resistance.

Topics: Adolescent; Adrenal Cortex Hormones; Butadienes; Combined Modality Therapy; Cytarabine; Disease Progression; Drug Resistance; Drug Therapy, Combination; Enzyme Activation; Exons; HEK293 Cells; Hematopoietic Stem Cell Transplantation; Histiocytosis, Langerhans-Cell; Humans; Male; MAP Kinase Kinase 1; MAP Kinase Signaling System; Molecular Targeted Therapy; Mutation; Nitriles; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Pyrazoles; Pyridones; Pyrimidinones; Recombinant Fusion Proteins; Sequence Deletion; Thiophenes; Vincristine

2018