Incidence and clinical characteristics of myeloproliferative neoplasms displaying a PDGFRB rearrangement
Incidence and clinical characteristics of myeloproliferative neoplasms displaying a PDGFRB rearrangement
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DOI：
10.1111/j.1600-0609.2012.01799.x
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发表时间：
2012-07-01
影响因子：
3.1
通讯作者：
Hernandez-Rivas, Jesus M.
中科院分区：
文献类型：
--
作者：
Arefi, Maryam;Garcia, Juan L.;Hernandez-Rivas, Jesus M.
目的PDGFRB基因重排的骨髓增生性肿瘤是来源于造血干细胞的罕见疾病。该研究的目的是评估这些疾病的发生率，并确定临床和生物学特征以及对伊马替尼治疗的反应。方法应用分子细胞遗传学方法对556例骨髓增生性肿瘤进行研究。结果PDGFRB基因重排的骨髓增生性肿瘤（MPN）发生率低（10例，占MPN的1.8%）。大多数患者表现为中度贫血（平均Hb为10.0 gr/dL;范围为7.5至13 g/dL），白细胞（中位白色血细胞为21.7 x 109/L，范围为4至43 x 109/L）和嗜酸性粒细胞增多症（中位循环嗜酸性粒细胞为2.4 × 109/L，范围为1.15.7 × 109/L），显示PDGFRB重排的骨髓浸润细胞的中位值为55%（范围为3785%）。其中3例为t（5;12），2例为17 q21区重排。在2例病例中，观察到del（5）（q31）。大多数患者对标准剂量的伊马替尼有反应，并且在随访超过9年的患者中，反应维持在时间内。结论PDGFRB基因重排的发生率较低。这些患者表现为白细胞增多伴嗜酸性粒细胞增多和贫血。伊马替尼治疗显示PDGFRB重排的患者的疗效高。因此，在所有没有任何其他分子畸变的MPN患者中，应确定PDGFRB重排。
Objectives The myeloproliferative neoplasms displaying a PDGFRB rearrangement are rare diseases derived from a haematopoietic stem cell. The goals of the study were to assess the incidence of these disorders and to define the clinical and biological characteristics as well as the response to the imatinib therapy. Methods A total of 556 patients with myeloproliferative neoplasms were studied by means of molecular cytogenetics. Results The incidence of myeloproliferative neoplasms (MPN) with PDGFRB rearrangement was low (10 cases, 1.8% of all MPN). Most of the patients showed moderate anaemia (median Hb was 10.0 gr/dL; range from 7.5 to 13 g/dL), leukocytosis (median white blood cells was 21.7 x 109/L with a range from 4 to 43 x 109/L) and eosinophilia (median circulating eosinophils was 2.4 x 109/L with a range of 1.15.7 x 109/L) with a median of bone marrow infiltration cells displaying PDGFRB rearrangement of 55% (range, 3785%). In three cases, a t(5;12) was observed while two patients showed rearrangements of 17q21 region. In two cases, a del(5)(q31) was observed. Most of the patients responded to standard dosage of imatinib, and the response was maintained in the time in those patients with a follow-up higher than 9 years. Conclusions The incidence of patients with PDGFRB rearrangement is low. These patients showed leukocytosis with eosinophilia and anaemia. The efficacy of imatinib therapy in patients showing PDGFRB rearrangement is high. For this reason, in all patients with MPN without any other molecular aberration, PDGFRB rearrangement should be ascertained.