title: MPLW515L mutation in acute megakaryoblastic leukaemia.
abstract: The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 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.
authors.affiliation: Institute of Pathology, Hannover Medical School, Hannover, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Hussein
authors.forename: O
authors.initials: O
authors.lastname: Bock
authors.forename: K
authors.initials: K
authors.lastname: Theophile
authors.forename: K
authors.initials: K
authors.lastname: Schulz-Bischof
authors.forename: A
authors.initials: A
authors.lastname: Porwit
authors.forename: J
authors.initials: J
authors.lastname: Schlue
authors.forename: D
authors.initials: D
authors.lastname: Jonigk
authors.forename: H
authors.initials: H
authors.lastname: Kreipe
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001752:Blast Crisis; D001854:Bone Marrow Cells; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D007834:Lasers; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D042282:Microdissection; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D055728:Primary Myelofibrosis / Q000235:genetics*; D053628:Receptors, Thrombopoietin / Q000235:genetics*
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2