Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis

Autor: 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
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Platelets, Vol 33, Iss 8, Pp 1220-1227 (2022)
Druh dokumentu: article
ISSN: 0953-7104
1369-1635
09537104
DOI: 10.1080/09537104.2022.2091773
Popis: 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.
Databáze: Directory of Open Access Journals
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje