Novel loss-of-function mutations of the haematopoiesis-related transcription factor, acute myeloid leukaemia 1/runt-related transcription factor 1, detected in acute myeloblastic leukaemia and myelodysplastic syndrome

2004 ◽  
Vol 125 (6) ◽  
pp. 709-719 ◽  
Author(s):  
Mitsushige Nakao ◽  
Shigeo Horiike ◽  
Yoko Fukushima-Nakase ◽  
Motohiro Nishimura ◽  
Yasuko Fujita ◽  
...  
2001 ◽  
Vol 112 (1) ◽  
pp. 248-249 ◽  
Author(s):  
Werner Olipitz ◽  
Gernot P. Tilz ◽  
Christine Beham-Schmid ◽  
Christa Eibinger ◽  
Petra Kerzina ◽  
...  

2019 ◽  
Vol 102 (3) ◽  
pp. 218-226
Author(s):  
Marie Warny ◽  
Jens Helby ◽  
Henrik Sengeløv ◽  
Børge G. Nordestgaard ◽  
Henrik Birgens ◽  
...  

Author(s):  
Henrik Hasle ◽  
Charlotte M. Niemeyer

Myeloid malignancies in children are divided into acute myeloid leukaemia (AML), myelodysplastic syndrome (MDS), juvenile myelomonocytic leukaemia (JMML), and the myeloid leukaemia of Down syndrome (ML-DS). Predisposing genetic conditions are common in MDS. Differentiating MDS from inherited bone marrow failure or AML may be challenging. Therapy consists of observation, immunosuppression, or stem-cell transplantation (SCT). Germline and somatic mutations deregulating the Ras/MAPK signal pathways are key initiating events in JMML. Genetics in JMML defines clinically relevant subgroups and indications for SCT. ML-DS presents with unique clinical characteristics and responds favourably to reduced doses of AML chemotherapy; however, relapse is often refractory to therapy.


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