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Updated: Dec 15, 2025
Transduction-Transplantation Mouse Model of Myeloproliferative Neoplasm
Published on: December 22, 2016
Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation
Stephen E Langabeer1, Lisa Lee Tokar1, Laura Kearney1
1Cancer Molecular Diagnostics, St. James's Hospital, Dublin D08 W9RT, Ireland.
Abstract:
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.
Insights
This study details a rare MPL W515S mutation in an elderly patient with myeloproliferative neoplasms, presenting with thrombocytosis and stroke. Treatment led to a favorable outcome, adding crucial data on this uncommon mutation.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Activating mutations in MPL W515 are key drivers of myeloproliferative neoplasms (MPN), including essential thrombocythemia and primary myelofibrosis.
- The MPL W515L mutation is most common, while other variants like MPL W515S are infrequently reported with limited clinical data.
Observation:
- A case report of an elderly male patient with persistent thrombocytosis and an ischemic cerebral event.
- Bone marrow biopsy revealed prefibrotic myelofibrosis.
- Targeted sequencing identified the rare MPL W515S mutation.
Findings:
- The patient presented with clinical and histopathological findings consistent with myeloproliferative neoplasms.
- The presence of the rare MPL W515S mutation was confirmed through molecular analysis.
- Therapeutic interventions including thrombolysis and cytoreduction were administered.
Implications:
- This case contributes valuable phenotypic and clinicopathological information for the rare MPL W515S mutation in MPN.
- The findings underscore the importance of comprehensive molecular profiling in MPN diagnosis and management.
- Further research into the specific clinical implications of rare MPL mutations is warranted.
