438例原发性血小板增多症的临床分析

目的 了解原发性血小板增多症(ET)患者临床特点及疾病自然过程.方法 对本院1980年5月至2006年12月诊治的ET患者进行回顾性分析.结果 438例患者中,男201例,女237例,中位发病年龄48岁.有出血症状者101例(23.1%),有栓塞者86例(19.6%),同时有出血和血栓者13例(3.0%),脾大150例,肝大60例.无症状者149例(34.0%),在诊治其他疾病时发现者145例(33.1%).初诊时中位血小板数为1000×109/L.255例作骨髓活检,以大而多分叶的成熟巨核细胞增生为主,其中51例局部伴有网状纤维增生.从114例患者中检出90例JAK2V617F突变阳性,阳性率为78.9%.180例作染色体核型检查,6例(3.3%)染色体异常.261例随访时间>12个月,中位随访时间为60(12～300)个月.17例(6.5%)进展为骨髓纤维化(MF).1例转为真性红细胞增多症(PV).1例6年后转为PV,20年后转为MF.转为急性单核细胞白血病(M5)、骨髓增生异常综合征(MDS)、多发性骨髓瘤(MM)各1例.结论 ET是以血栓和出血为主要症状的慢性骨髓增殖性疾病,无症状者比例高.主要进展为MF,大多预后较好.

Clinical analysis of 438 patients with essential thrombocythemia

Objective To analyse the clinical feature and natural course of essential thrombocythe-mia (ET). Methods A retrospective analysis was conducted in ET patients treated in our hospital during May 1980 to December 2006. Results Four hundred and thirty eight patients (201 males and 237 females with a median age of 48 years) were diagnosed. Hemorrhage occurred in 101 cases (23.1%) , thrombosis in 86 cases(19.6%), and both hemorrhage and thrombosis in 13 cases (3.0%). Splenomegaly occurred in 150 cases and hepatomegaly occurred in 60 cases. One hundred and forty-nine cases (34%) had no symptoms at diagnosis and 145 cases (33.1%) confirmed by routine blood tests due to other diseases. The median platelet count at diagnosis was 1000 × 109/L(533-3740)×109/L]. Bone marrow biopsy was performed in 255 cases which showed mainly increase of enlarged mature megakaryocytes with hyperlobulated nuclei and local proliferation of reticular fiber was revealed in 51 cases. JAK2V617F mutation was detected in 90(78.9%) of 114 patients studied. Karyotype analysis was performed in 180 cases and 6 (3.3%) had cional chromosomal aberrations. Two hundred and sixty-one patients were followed up over 12 months with a median of 60 months (range from 12 to 300 months). Seventeen cases (6.5%) evolved into marrow fibrosis (MF) and one case into polycythemia vent (PV). One case evolved into PV 6 years and then MF 20 years after diagnosis of ET.Three cases developed acute monocyte leukemia(M5), myelodysplastic syndrome (MDS) and multiple mye-loma (MM), respectively. Conclusions ET is a chronic myeloproliferative disorder characterized predomi-nately by thrombocytosis and hemorrhage. The percentage of asymptomatic cases is high. The prognoses for most cases were good with a few cases may evolve into MF.