Guglielmelli Paola, Pancrazzi Alessandro, Bergamaschi Gaetano, Rosti Vittorio, Villani Laura, Antonioli Elisabetta, Bosi Alberto, Barosi Giovanni, Vannucchi Alessandro M
Department of Haematology, University of Florence, Florence, Italy.
Br J Haematol. 2007 May;137(3):244-7. doi: 10.1111/j.1365-2141.2007.06565.x.
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated. Of 217 myelofibrosis subjects, 18 (8.2%) had an MPL mutation, four of which (22%) co-existed with JAK2(V617F) mutation. When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012). These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
携带MPL（W515L/K）突变的骨髓纤维化患者的临床和血液学表型尚未得到充分研究。在217名骨髓纤维化患者中，18名（8.2%）存在MPL突变，其中4名（22%）与JAK2（V617F）突变共存。与MPL野生型患者相比，无论JAK2（V617F）状态如何，携带MPL（W515L/K）的患者女性更为常见，年龄更大（61岁对57岁；P = 0.02），贫血更严重（血红蛋白，101 g/L对121 g/L；P = 0.002），且更有可能需要定期输血支持（P = 0.012）。这些数据表明，骨髓纤维化中的MPL突变特征为具有更严重贫血表型的患者。
