MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature
Essential thrombocythemia (ET) is a clonal bone marrow disease, characterized by increased production of platelets along with other clinical and bone marrow findings. Most patients with ET will have a somatic mutation in one of the known gene locations of JAK2, CALR , or MPL that can upregulate the...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-03-01
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| Series: | Hematology Reports |
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| Online Access: | https://pagepress.org/journals/index.php/hr/article/view/7868 |
| _version_ | 1797936868597170176 |
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| author | Ahmed G. Elsayed Aeesha Ranavaya Muhammad Omer Jamil |
| author_facet | Ahmed G. Elsayed Aeesha Ranavaya Muhammad Omer Jamil |
| author_sort | Ahmed G. Elsayed |
| collection | DOAJ |
| description | Essential thrombocythemia (ET) is a clonal bone marrow disease, characterized by increased production of platelets along with other clinical and bone marrow findings. Most patients with ET will have a somatic mutation in one of the known gene locations of JAK2, CALR , or MPL that can upregulate the JAK-STAT pathway. MPL mutation is present in 5% of cases with the most common mutations being W515L and W515K. In this report we describe 2 cases of patients with clinical and laboratory picture of ET. One patient carried MPLY252H mutation which is previously unreported in the adult population but has been shown to be a gain-of-function mutation. The other patient carried MPL F126fs mutation which is not known to be of clinical importance and has not been previously reported. |
| first_indexed | 2024-04-10T18:37:00Z |
| format | Article |
| id | doaj.art-040e4c24edab422181e7ac64673e7201 |
| institution | Directory Open Access Journal |
| issn | 2038-8322 2038-8330 |
| language | English |
| last_indexed | 2024-04-10T18:37:00Z |
| publishDate | 2019-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-040e4c24edab422181e7ac64673e72012023-02-02T00:45:15ZengMDPI AGHematology Reports2038-83222038-83302019-03-0111110.4081/hr.2019.7868MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literatureAhmed G. Elsayed0Aeesha Ranavaya1Muhammad Omer Jamil2Hematology Oncology Department, Promedica/University of Toledo, Toledo, OHHematology/Oncology Department, Joan C. Edwards School of Medicine, Marshall University, WVHematology/Oncology Department, Joan C. Edwards School of Medicine, Marshall University, WVEssential thrombocythemia (ET) is a clonal bone marrow disease, characterized by increased production of platelets along with other clinical and bone marrow findings. Most patients with ET will have a somatic mutation in one of the known gene locations of JAK2, CALR , or MPL that can upregulate the JAK-STAT pathway. MPL mutation is present in 5% of cases with the most common mutations being W515L and W515K. In this report we describe 2 cases of patients with clinical and laboratory picture of ET. One patient carried MPLY252H mutation which is previously unreported in the adult population but has been shown to be a gain-of-function mutation. The other patient carried MPL F126fs mutation which is not known to be of clinical importance and has not been previously reported.https://pagepress.org/journals/index.php/hr/article/view/7868MPL mutationsEssential thrombocythemia.Myeloproliferative diseaseMPL Y252H and MPL F126fs |
| spellingShingle | Ahmed G. Elsayed Aeesha Ranavaya Muhammad Omer Jamil MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature Hematology Reports MPL mutations Essential thrombocythemia. Myeloproliferative disease MPL Y252H and MPL F126fs |
| title | MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature |
| title_full | MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature |
| title_fullStr | MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature |
| title_full_unstemmed | MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature |
| title_short | MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature |
| title_sort | mpl y252h and mpl f126fs mutations in essential thrombocythemia case series and review of literature |
| topic | MPL mutations Essential thrombocythemia. Myeloproliferative disease MPL Y252H and MPL F126fs |
| url | https://pagepress.org/journals/index.php/hr/article/view/7868 |
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