Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis
The P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs. The clinical and bone marrow (BM) features of P106L mutation are unknown. Genetic databases at two tertiary hospitals in Saudi Arabia were searched to...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2022-11-01
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| Series: | Platelets |
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| Online Access: | http://dx.doi.org/10.1080/09537104.2022.2091773 |
| _version_ | 1797684161022001152 |
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| author | Musa Alzahrani Saeed Al Turki Waleed Al Rajban Fatimah Alshalati Fahad Almodaihsh Khadega A. Abuelgasim Bader Alahmari Thamer Al Bogami Osama Ali Talal Al Harbi Mohammed A. AlBalwi Maram Alotaibi Aamer Aleem Ahmed Al Asker Areej Al Mugairi |
| author_facet | Musa Alzahrani Saeed Al Turki Waleed Al Rajban Fatimah Alshalati Fahad Almodaihsh Khadega A. Abuelgasim Bader Alahmari Thamer Al Bogami Osama Ali Talal Al Harbi Mohammed A. AlBalwi Maram Alotaibi Aamer Aleem Ahmed Al Asker Areej Al Mugairi |
| author_sort | Musa Alzahrani |
| collection | DOAJ |
| description | The P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs. The clinical and bone marrow (BM) features of P106L mutation are unknown. Genetic databases at two tertiary hospitals in Saudi Arabia were searched to identify patients with the MPL P106L mutation. Clinical data were collected retrospectively and the BM aspirates and biopsies were independently reviewed by two hematopathologists. In total, 115 patients were included. Median age was 33 years of which 31 patients were pediatric and 65 were female. The mutation was homozygous in 87 patients. Thrombocytosis was documented in 107 patients, with a median platelet count of 667 × 109/L. The homozygous genotype was associated with a higher platelet count. Thirty-three patients had an evaluable BM and clustering of megakaryocytes was observed in 30/33 patients. At the time of last follow-up, 114 patients were alive. The median follow-up was 7.8 years from the time of thrombocytosis. No patients developed disease progression to myelofibrosis. The P106L mutation was associated with marked thrombocytosis at a younger age and with a low risk of thrombosis, splenomegaly, and marrow fibrosis. The BM demonstrated normal or hypocellular marrow with megakaryocyte clusters. |
| first_indexed | 2024-03-12T00:25:28Z |
| format | Article |
| id | doaj.art-b3dfdcf067bd4384bbe486c95c270452 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:25:28Z |
| publishDate | 2022-11-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-b3dfdcf067bd4384bbe486c95c2704522023-09-15T10:38:11ZengTaylor & Francis GroupPlatelets0953-71041369-16352022-11-013381220122710.1080/09537104.2022.20917732091773Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosisMusa Alzahrani0Saeed Al Turki1Waleed Al Rajban2Fatimah Alshalati3Fahad Almodaihsh4Khadega A. Abuelgasim5Bader Alahmari6Thamer Al Bogami7Osama Ali8Talal Al Harbi9Mohammed A. AlBalwi10Maram Alotaibi11Aamer Aleem12Ahmed Al Asker13Areej Al Mugairi14College of Medicine, King Saud UniversityKing Abdulaziz Medical CityKing Abdulaziz Medical CityCollege of Medicine, King Saud UniversityKing Saud University Medical City, King Saud UniversityKing Saud Bin Abdulaziz University for Health SciencesKing Saud Bin Abdulaziz University for Health SciencesKing Saud University Medical City, King Saud UniversityKing Saud Bin Abdulaziz University for Health SciencesKing Abdulaziz Medical CityKing Abdulaziz Medical CityKing Saud University Medical City, King Saud UniversityCollege of Medicine, King Saud UniversityKing Saud Bin Abdulaziz University for Health SciencesKing Abdullah International Medical Research CenterThe P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs. The clinical and bone marrow (BM) features of P106L mutation are unknown. Genetic databases at two tertiary hospitals in Saudi Arabia were searched to identify patients with the MPL P106L mutation. Clinical data were collected retrospectively and the BM aspirates and biopsies were independently reviewed by two hematopathologists. In total, 115 patients were included. Median age was 33 years of which 31 patients were pediatric and 65 were female. The mutation was homozygous in 87 patients. Thrombocytosis was documented in 107 patients, with a median platelet count of 667 × 109/L. The homozygous genotype was associated with a higher platelet count. Thirty-three patients had an evaluable BM and clustering of megakaryocytes was observed in 30/33 patients. At the time of last follow-up, 114 patients were alive. The median follow-up was 7.8 years from the time of thrombocytosis. No patients developed disease progression to myelofibrosis. The P106L mutation was associated with marked thrombocytosis at a younger age and with a low risk of thrombosis, splenomegaly, and marrow fibrosis. The BM demonstrated normal or hypocellular marrow with megakaryocyte clusters.http://dx.doi.org/10.1080/09537104.2022.2091773familial thrombocythemiahereditary thrombocytosismpl |
| spellingShingle | Musa Alzahrani Saeed Al Turki Waleed Al Rajban Fatimah Alshalati Fahad Almodaihsh Khadega A. Abuelgasim Bader Alahmari Thamer Al Bogami Osama Ali Talal Al Harbi Mohammed A. AlBalwi Maram Alotaibi Aamer Aleem Ahmed Al Asker Areej Al Mugairi Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis Platelets familial thrombocythemia hereditary thrombocytosis mpl |
| title | Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis |
| title_full | Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis |
| title_fullStr | Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis |
| title_full_unstemmed | Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis |
| title_short | Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis |
| title_sort | pro106leu mpl mutation is associated with thrombocytosis and a low risk of thrombosis splenomegaly and marrow fibrosis |
| topic | familial thrombocythemia hereditary thrombocytosis mpl |
| url | http://dx.doi.org/10.1080/09537104.2022.2091773 |
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