Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

  title={Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network},
  author={Aur{\'e}lie Caye and Marion Strullu and Fabien Guidez and Bruno Cassinat and Steven Gazal and Odile Fenneteau and Elodie Lainey and Kazem Nouri and Saeideh Nakhaei-Rad and Radovan Dvorsk{\'y} and Julie Lachenaud and Sabrina Fontanele Pereira and Jocelyne Vivent and Emmanuelle Verger and Dominique Vidaud and Claire Galambrun and Capucine Picard and Arnaud Petit and Audrey Contet and Marilyne Poir{\'e}e and Nicolas Sirvent and Françoise M{\'e}chinaud and Dalila Adjaoud and Catherine Paillard and Brigitte Nelken and Yves R{\'e}guerre and Yves Bertrand and Dieter H{\"a}ussinger and J H Dalle and Mohammad Reza Ahmadian and Andr{\'e} Baruchel and Christine Chomienne and H{\'e}l{\`e}ne Cav{\'e}},
  journal={Nature Genetics},
Juvenile myelomonocytic leukemia (JMML) is a rare and severe myelodysplastic and myeloproliferative neoplasm of early childhood initiated by germline or somatic RAS-activating mutations. Genetic profiling and whole-exome sequencing of a large JMML cohort (118 and 30 cases, respectively) uncovered additional genetic abnormalities in 56 cases (47%). Somatic events were rare (0.38 events/Mb/case) and restricted to sporadic (49/78; 63%) or neurofibromatosis type 1 (NF1)-associated (8/8; 100%) JMML… CONTINUE READING
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The function of embryonic stem cell–expressed RAS (E-RAS), a unique RAS family member, correlates with its additional motifs and its structural properties

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