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Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia
Joint Authors
Smyth, Liam
Perera, Meegahage
Langabeer, Stephen E.
Crotty, Gerard
Morrell, Ruth
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-18
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Mutations of MPL are present in a significant proportion of patients with the myeloproliferative neoplasms (MPN), primary myelofibrosis (PMF), and essential thrombocythaemia (ET).
The most frequent of these mutations, W515L and W515K, occur in exon 10 of MPL, which encodes the receptor for thrombopoietin.
Another exon 10 mutation, MPL S505N, has been shown to be a founder mutation in several pedigrees with familial thrombocythaemia where it is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis.
Rare cases of sporadic, nonfamilial, MPL S505N MPN have been documented, but the presenting laboratory and clinical features have not been described in detail.
The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis.
Further MPN cases possessing this genotype require reporting in order to ascertain whether any particular morphological or clinical features, if present, determine clinical course and aid the refinement of therapeutic options.
American Psychological Association (APA)
Morrell, Ruth& Langabeer, Stephen E.& Smyth, Liam& Perera, Meegahage& Crotty, Gerard. 2013. Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia. Case Reports in Hematology،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-494014
Modern Language Association (MLA)
Morrell, Ruth…[et al.]. Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia. Case Reports in Hematology No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-494014
American Medical Association (AMA)
Morrell, Ruth& Langabeer, Stephen E.& Smyth, Liam& Perera, Meegahage& Crotty, Gerard. Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia. Case Reports in Hematology. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-494014
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-494014