Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation
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 thes...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-01-01
|
| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2020/8375986 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832553480965849088 |
|---|---|
| author | Stephen E. Langabeer Lisa Lee Tokar Laura Kearney Cathal O’Brien Kowshika Thavarajah Aisling Barrett John McManus Hilary O’Leary |
| author_facet | Stephen E. Langabeer Lisa Lee Tokar Laura Kearney Cathal O’Brien Kowshika Thavarajah Aisling Barrett John McManus Hilary O’Leary |
| author_sort | Stephen E. Langabeer |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-87db085035ec4854b98513efc79fe0c6 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-87db085035ec4854b98513efc79fe0c62025-02-03T05:53:54ZengWileyCase Reports in Hematology2090-65602090-65792020-01-01202010.1155/2020/83759868375986Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S MutationStephen E. Langabeer0Lisa Lee Tokar1Laura Kearney2Cathal O’Brien3Kowshika Thavarajah4Aisling Barrett5John McManus6Hilary O’Leary7Cancer Molecular Diagnostics, St. James’s Hospital, Dublin D08 W9RT, IrelandCancer Molecular Diagnostics, St. James’s Hospital, Dublin D08 W9RT, IrelandCancer Molecular Diagnostics, St. James’s Hospital, Dublin D08 W9RT, IrelandCancer Molecular Diagnostics, St. James’s Hospital, Dublin D08 W9RT, IrelandDepartment of Medicine for the Elderly, University Hospital Limerick, Limerick V94 F858, IrelandDepartment of Haematology, University Hospital Limerick, Limerick V94 F858, IrelandDepartment of Medicine for the Elderly, University Hospital Limerick, Limerick V94 F858, IrelandDepartment of Haematology, University Hospital Limerick, Limerick V94 F858, IrelandAcquired, 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.http://dx.doi.org/10.1155/2020/8375986 |
| spellingShingle | Stephen E. Langabeer Lisa Lee Tokar Laura Kearney Cathal O’Brien Kowshika Thavarajah Aisling Barrett John McManus Hilary O’Leary Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation Case Reports in Hematology |
| title | Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation |
| title_full | Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation |
| title_fullStr | Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation |
| title_full_unstemmed | Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation |
| title_short | Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation |
| title_sort | prefibrotic myelofibrosis presenting with multiple cerebral embolic infarcts and the rare mpl w515s mutation |
| url | http://dx.doi.org/10.1155/2020/8375986 |
| work_keys_str_mv | AT stephenelangabeer prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT lisaleetokar prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT laurakearney prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT cathalobrien prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT kowshikathavarajah prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT aislingbarrett prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT johnmcmanus prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation AT hilaryoleary prefibroticmyelofibrosispresentingwithmultiplecerebralembolicinfarctsandtheraremplw515smutation |