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Am J Hematol. 2017 Jan;92(1):94-108. doi: 10.1002/ajh.24607.
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172例阴性慢性骨髓增殖性肿瘤患者临床特征的回顾性分析。

Retrospective analysis of the clinical features of 172 patients with -negative chronic myeloproliferative neoplasms.

作者信息

Lin Xiaolan, Huang Huifang, Chen Ping

机构信息

Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fujian Medical University Union Hospital, 350000, Xinquan Rd, Fuzhou, Fujian China.

出版信息

Mol Cytogenet. 2020 Feb 17;13:8. doi: 10.1186/s13039-020-0471-z. eCollection 2020.

DOI:10.1186/s13039-020-0471-z
PMID:32095159
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7027207/
Abstract

BACKGROUND

To explore the clinical features of the patients with -negative chronic myeloproliferative neoplasms (MPNs) in our hospital and to reveal the unique features of -negative MPNs patients in our center.

METHODS

Retrospective analysis of routine karyotype analysis results, driver gene mutations and other related clinical parameters of 172 patients with newly diagnosed -negative MPNs who were admitted to our hospital between October 2013 and June 2018.

RESULTS

(1) The rate of karyotypic abnormalities were 25, 6.3 and 2.9% in primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET) patients, respectively. (2) The mutation rate of was 62.5%, and that of the , and genes was 4.2% in PMF. The mutation rates of and exon were 91.3 and 1.3% in PV, respectively. The mutation rates of and CALR were 69.1 and 11.8% in ET, respectively. (3) Patients with than with the wild-type gene were more often female in PMF ( = 0.027); had higher peripheral blood white blood cell (WBC) counts ( = 0.006), platelet (PLT) count ( = 0.001) and splenomegaly ( < 0.05) in PV; and had higher WBC ( = 0.001), hemoglobin concentrations ( = 0.001), lower PLT ( = 0.037), splenomegaly and endogenous coagulopathy ( < 0.05) in ET. (4) Among the PV and ET patients, those with thrombus were older than those in the nonthrombotic group.

CONCLUSION

PMF patients have more chromosomal abnormalities than PV and ET patients, and the effect of driver mutations on the clinical features of patients with MPNs differs among the three subtypes.

摘要

背景

探讨我院阴性慢性骨髓增殖性肿瘤(MPNs)患者的临床特征,揭示我院中心阴性MPNs患者的独特特征。

方法

回顾性分析2013年10月至2018年6月期间我院收治的172例新诊断的阴性MPNs患者的常规核型分析结果、驱动基因突变及其他相关临床参数。

结果

(1)原发性骨髓纤维化(PMF)、真性红细胞增多症(PV)和原发性血小板增多症(ET)患者的核型异常率分别为25%、6.3%和2.9%。(2)PMF中 的突变率为62.5%, 、 和 基因的突变率为4.2%。PV中 和外显子的突变率分别为91.3%和1.3%。ET中 和CALR的突变率分别为69.1%和11.8%。(3)PMF中携带 基因而非野生型基因的患者女性更常见( = 0.027);PV中患者外周血白细胞(WBC)计数( = 0.006)、血小板(PLT)计数( = 0.001)更高且脾肿大更常见( < 0.05);ET中患者WBC( = 0.001)、血红蛋白浓度( = 0.001)更高,PLT更低( = 0.037),脾肿大和内源性凝血障碍更常见( < 0.05)。(4)在PV和ET患者中,有血栓的患者比无血栓组的患者年龄更大。

结论

PMF患者比PV和ET患者有更多的染色体异常,并且驱动突变对MPNs患者临床特征的影响在三种亚型中有所不同。