Article
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
British journal of haematology - 1 Feb 2024
Ramamoorthy Senthilkumar, Lebrecht Dirk, Schanze Denny, Schanze Ina, Wieland Ilse, Andrieux Geoffroy, Metzger Patrick, Hess Maria, Albert Michael H, Borkhardt Arndt, Bresters Dorine, Buechner Jochen, Catala Albert, De Haas Valerie, Dworzak Michael, Erlacher Miriam, Hasle Henrik, Jahnukainen Kirsi, Locatelli Franco, Masetti Riccardo, Stary Jan, Turkiewicz Dominik, Vinci Luca, Wlodarski Marcin W, Yoshimi Ayami, Boerries Melanie, Niemeyer Charlotte M, Zenker Martin, Flotho Christian
Abstract excerpt
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...
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