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Juvenile myelomonocytic leukaemia and Noonan syndrome: A case study
Juvenile myelomonocytic leukaemia and Noonan syndrome: A case study
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Juvenile myelomonocytic leukaemia and Noonan syndrome: A case study
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Juvenile myelomonocytic leukaemia and Noonan syndrome: A case study
Juvenile myelomonocytic leukaemia and Noonan syndrome: A case study
Journal Article

Juvenile myelomonocytic leukaemia and Noonan syndrome: A case study

2016
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Overview
Both Noonan syndrome and juvenile myelomonocytic leukemia are characterised by hyperactivation of the Ras/ MAPK signalling pathway, and as such may manifest concurrently. Here, we report a case study involving twins who originally presented with a petechial rash and a marked thrombocytopenia. Over time, the haematological picture developed into a juvenile myelomonocytic leukemia, and given the rare nature of this disorder, prompted review for other clinical manifestations, thus ultimately allowing the haematologist to consider a syndromic disorder. Key words: Juvenile myelomonocytic leukaemia, Noonan syndrome, Ras/MAPK signalling pathway.