-
Autor
Albert, Michael H 1 Andrieux, Geoffroy 1 Boerries, Melanie 1 Borkhardt, Arndt 1 Bresters, Dorine 1 Buechner, Jochen 1 Catala, Albert 1 De Haas, Valerie 1 Dworzak, Michael 1 Erlacher, Miriam 1 Flotho, Christian 1 Hasle, Henrik 1 Hess, Maria 1 Jahnukainen, Kirsi 1 Lebrecht, Dirk 1 Locatelli, Franco 1 Masetti, Riccardo 1 Metzger, Patrick 1 Niemeyer, Charlotte M 1 Ramamoorthy, Senthilkumar 1
-
Pracoviště
Department of Hematology and Oncology... 1 Department of Pediatric Hematology On... 1 Department of Pediatric Hematology an... 1 Department of Pediatric Hematology an... 1 Department of Pediatric Hematology an... 1 Department of Pediatric Oncology Hema... 1 Department of Pediatric Oncology Hema... 1 Department of Pediatrics Aarhus Unive... 1 Department of Pediatrics and Adolesce... 1 Diagnostic Laboratory DCOG Laboratory... 1 Division of Hematology Oncology and S... 1 Division of Pediatric Hematology and ... 1 Faculty of Biology University of Frei... 1 German Cancer Consortium partner site... 1 Human Genetics University of Magdebur... 1 Institute of Medical Bioinformatics a... 1 Pediatric Oncology and Hematology Uni... 1 Princess Maxima Center for Pediatric ... 1 St Anna Children's Cancer Research In... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Vlastník
-
Autor
Albert, Michael H 1 Andrieux, Geoffroy 1 Boerries, Melanie 1 Borkhardt, Arndt 1 Bresters, Dorine 1 Buechner, Jochen 1 Catala, Albert 1 De Haas, Valerie 1 Dworzak, Michael 1 Erlacher, Miriam 1 Flotho, Christian 1 Hasle, Henrik 1 Hess, Maria 1 Jahnukainen, Kirsi 1 Lebrecht, Dirk 1 Locatelli, Franco 1 Masetti, Riccardo 1 Metzger, Patrick 1 Niemeyer, Charlotte M 1 Ramamoorthy, Senthilkumar 1
-
Pracoviště
Department of Hematology and Oncology... 1 Department of Pediatric Hematology On... 1 Department of Pediatric Hematology an... 1 Department of Pediatric Hematology an... 1 Department of Pediatric Hematology an... 1 Department of Pediatric Oncology Hema... 1 Department of Pediatric Oncology Hema... 1 Department of Pediatrics Aarhus Unive... 1 Department of Pediatrics and Adolesce... 1 Diagnostic Laboratory DCOG Laboratory... 1 Division of Hematology Oncology and S... 1 Division of Pediatric Hematology and ... 1 Faculty of Biology University of Frei... 1 German Cancer Consortium partner site... 1 Human Genetics University of Magdebur... 1 Institute of Medical Bioinformatics a... 1 Pediatric Oncology and Hematology Uni... 1 Princess Maxima Center for Pediatric ... 1 St Anna Children's Cancer Research In... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Vlastník
-
Ramamoorthy, Senthilkumar
Autor Ramamoorthy, Senthilkumar Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany Institute of Medical Bioinformatics and Systems Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Lebrecht, Dirk
- Schanze, Denny
- Schanze, Ina
- Wieland, Ilse
- Andrieux, Geoffroy
- Metzger, Patrick
- Hess, Maria
- Albert, Michael H
- Borkhardt, Arndt
PubMed
37945316
DOI
10.1111/bjh.19190
Knihovny.cz E-zdroje
Juvenile myelomonocytic leukaemia (JMML) is characterized by gene variants that deregulate the RAS signalling pathway. Children with neurofibromatosis type 1 (NF-1) carry a defective NF1 allele in the germline and are predisposed to JMML, which presumably requires somatic inactivation of the NF1 wild-type allele. Here we examined the two-hit concept in leukaemic cells of 25 patients with JMML and NF-1. Ten patients with JMML/NF-1 exhibited a NF1 loss-of-function variant in combination with uniparental disomy of the 17q arm. Five had NF1 microdeletions combined with a pathogenic NF1 variant and nine carried two compound-heterozygous NF1 variants. We also examined 16 patients without clinical signs of NF-1 and no variation in the JMML-associated driver genes PTPN11, KRAS, NRAS or CBL (JMML-5neg) and identified eight patients with NF1 variants. Three patients had microdeletions combined with hemizygous NF1 variants, three had compound-heterozygous NF1 variants and two had heterozygous NF1 variants. In addition, we found a high incidence of secondary ASXL1 and/or SETBP1 variants in both groups. We conclude that the clinical diagnosis of JMML/NF-1 reliably indicates a NF1-driven JMML subtype, and that careful NF1 analysis should be included in the genetic workup of JMML even in the absence of clinical evidence of NF-1.
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.