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Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.

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第一作者： Antonia,Kiwit

第一单位： Department of Pediatric Surgery, University Medical Center Eppendorf, Hamburg, Germany.

作者： Antonia,Kiwit ^[1] ; Julian,Trah ^[2] ; Amelie T,van der Ven ^[3] ; Ilske,Oschlies ^[4] ; Nikolas,von Bubnoff ^[5] ; Carsten,Müller ^[6] ; Ingo,Müller ^[7] ; Martin,Blohm ^[8] ; Philipp,Deindl ^[9] ; Sofia,Apostolidou ^[9] ; Dominique,Singer ^[9] ; Kai,Lehmberg ^[7]

作者单位： Department of Pediatric Surgery, University Medical Center Eppendorf, Hamburg, Germany. ^[1] Department of Pediatric Surgery, University Medical Center Eppendorf, Hamburg, Germany.;Division of Neonatology and Pediatric Critical Care Medicine, University Medical Center Eppendorf, Hamburg, Germany. ^[2] Institute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany. ^[3] Department of Pathology, Hematopathology Section, University Hospital Schleswig-Holstein, Christian Albrecht University, Kiel, Germany. ^[4] Department of Hematology and Oncology, Medical Center, University Hospital Schleswig-Holstein, Lübeck, Germany. ^[5] University of Cologne, Faculty of Medicine and University Hospital Cologne, Pharmacology at the Laboratory Centre, Therapeutic Drug Monitoring, Cologne, Germany. ^[6] Division of Pediatric Stem Cell Transplantation and Immunology, Clinic of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany. ^[7] Division of Neonatology and Pediatric Critical Care Medicine, University Medical Center Eppendorf, Hamburg, Germany.;Altona Children's Hospital, Hamburg, Germany. ^[8] Division of Neonatology and Pediatric Critical Care Medicine, University Medical Center Eppendorf, Hamburg, Germany. ^[9]

关键词 D816V avapritinib midostaurin systemic mastocytosis tryptase

医学主题词女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);致命性结局(Fatal Outcome);生殖细胞系突变(Germ-Line Mutation);肥大细胞增生症, 系统性(Mastocytosis, Systemic);原癌基因蛋白质类c-kit(Proto-Oncogene Proteins c-kit)

DOI 10.1002/pbc.32129

PMID 41121636

发布时间 2026-01-14

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