Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation
Joint Authors
Kearney, Laura
Langabeer, Stephen E.
Lee Tokar, Lisa
O’Brien, Cathal
Thavarajah, Kowshika
Barrett, Aisling
McManus, John
O’Leary, Hilary
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-06-20
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Acquired, activating mutations of MPL W515 are recognised driver mutations of the myeloproliferative neoplasms (MPN), namely, essential thrombocythemia and primary myelofibrosis.
The most common mutation at this codon is W515L with several other mutations also described at a lower frequency.
Of these less common mutations, MPL W515S has only been reported sporadically with limited information on clinicopathological associations.
We describe the case of an elderly man with persistent thrombocytosis presenting with an ischemic cerebral event.
Bone marrow biopsy showed evidence of prefibrotic myelofibrosis with targeted sequencing demonstrating the presence of the rare MPL W515S mutation.
Thrombolytic and cytoreductive therapies resulted in a favorable outcome and follow-up.
This case provides additional, necessary, and phenotypic data for the rare MPN-associated MPL W515S mutation.
American Psychological Association (APA)
Langabeer, Stephen E.& Lee Tokar, Lisa& Kearney, Laura& O’Brien, Cathal& Thavarajah, Kowshika& Barrett, Aisling…[et al.]. 2020. Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation. Case Reports in Hematology،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147735
Modern Language Association (MLA)
Langabeer, Stephen E.…[et al.]. Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation. Case Reports in Hematology No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1147735
American Medical Association (AMA)
Langabeer, Stephen E.& Lee Tokar, Lisa& Kearney, Laura& O’Brien, Cathal& Thavarajah, Kowshika& Barrett, Aisling…[et al.]. Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation. Case Reports in Hematology. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147735
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147735