Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal transduction resulting from mutations in components of the RAS-signaling pathway.
Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
タイトル
The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.