Article
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.
Nature genetics - 1 Nov 2015
Caye Aurélie, Strullu Marion, Guidez Fabien, Cassinat Bruno, Gazal Steven, Fenneteau Odile, Lainey Elodie, Nouri Kazem, Nakhaei-Rad Saeideh, Dvorsky Radovan, Lachenaud Julie, Pereira Sabrina, Vivent Jocelyne, Verger Emmanuelle, Vidaud Dominique, Galambrun Claire, Picard Capucine, Petit Arnaud, Contet Audrey, Poirée Marilyne, Sirvent Nicolas, Méchinaud Françoise, Adjaoud Dalila, Paillard Catherine, Nelken Brigitte, Reguerre Yves, Bertrand Yves, Häussinger Dieter, Dalle Jean-Hugues, Ahmadian Mohammad Reza, Baruchel André, Chomienne Christine, Cavé Hélène
Abstract excerpt
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...
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