MPLW515L mutation in acute megakaryoblastic leukaemia
K Hussein, O Bock, K Theophile, K Schulz-Bischof… - Leukemia, 2009 - nature.com
K Hussein, O Bock, K Theophile, K Schulz-Bischof, A Porwit, J Schlue, D Jonigk, H Kreipe
Leukemia, 2009•nature.comThe thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the
gain of function point mutation W515K/L in∼ 5% of patients with primary myelofibrosis/
idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative
disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid
leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=
12) was analysed for the MPL W515K/L mutation by pyrosequencing. In three cases (25%) …
gain of function point mutation W515K/L in∼ 5% of patients with primary myelofibrosis/
idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative
disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid
leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=
12) was analysed for the MPL W515K/L mutation by pyrosequencing. In three cases (25%) …
Abstract
The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in∼ 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n= 12) was analysed for the MPL W515K/L mutation by pyrosequencing. In three cases (25%), MPL W515L was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. None of the secondary AML cases evolving from pre-existing PMF showed MPL W515K/L (n= 4). We conclude that MPL W515L occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
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