Alzahrani Musa, Al Turki Saeed, Al Rajban Waleed, Alshalati Fatimah, Almodaihsh Fahad, Abuelgasim Khadega A, Alahmari Bader, Al Bogami Thamer, Ali Osama, Al Harbi Talal, AlBalwi Mohammed A, Alotaibi Maram, Aleem Aamer, Al Asker Ahmed, Al Mugairi Areej
Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Platelets. 2022 Nov 17;33(8):1220-1227. doi: 10.1080/09537104.2022.2091773. Epub 2022 Jul 5.
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 × 10/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.
人类骨髓增殖性白血病病毒癌基因（MPL）中的P106L突变被证明与阿拉伯人的遗传性血小板增多症有关。P106L突变的临床和骨髓特征尚不清楚。检索了沙特阿拉伯两家三级医院的基因数据库，以识别携带MPL P106L突变的患者。回顾性收集临床数据，骨髓穿刺液和活检组织由两名血液病理学家独立评估。总共纳入了115例患者。中位年龄为33岁，其中31例为儿童患者，65例为女性。87例患者的突变是纯合的。107例患者记录有血小板增多症，血小板计数中位数为667×10⁹/L。纯合基因型与较高的血小板计数相关。33例患者有可评估的骨髓，33例中有30例观察到巨核细胞聚集。在最后一次随访时，114例患者存活。自血小板增多症发生以来，中位随访时间为7.8年。没有患者疾病进展为骨髓纤维化。P106L突变与年轻时显著的血小板增多症以及血栓形成、脾肿大和骨髓纤维化的低风险相关。骨髓显示正常或细胞减少的骨髓伴有巨核细胞簇。
