Gene expression profiling in 38 JMML patients and 9 healthy donors (Validation cohort)

Juvenile myelomonocytic leukemia (JMML) is a very rare and aggressive stem cell disease that mainly occurs in young children. RAS activation constitutes the core component of oncogenic signaling. In addition, the leukemic blasts of a quarter of JMML patients present with monosomy 7 (-7), whereas more than half of the patients show enhanced age-adjusted fetal hemoglobin (HbF) levels. Hematopoietic stem cell transplantation is the current standard of care. This results in an event-free survival of 50 - 60%, indicating that novel molecular driven therapeutic options are urgently needed. Using gene expression profiling in an extensive series of 82 patient samples, we aimed at understanding the molecular biology behind JMML and identified a previously unrecognized molecular subgroup characterized by high LIN28B expression.

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Helsmoortel HH, Bresolin S, Lammens T, Cavé H, Noellke P, Caye A, Ghazavi F, de Vries A, Hasle H, Labarque V, Masetti R, Stary J, van den Heuvel-Eibrink MM, Philippé J, Van Roy N, Benoit Y, Speleman F, Niemeyer C, Flotho C, Basso G, Te Kronnie G, Van Vlierberghe P, De Moerloose B