CALR基因突变阳性的红细胞增多症1例报告及文献复习

Polycythemia with CALR gene mutation positive:a case report and literature review

CALR基因突变多见于骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)中的原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)患者,在真性红细胞增多症(PV)患者中罕有报道。我院收治1例红细胞增多症患者,骨髓基因检测为CALR基因突变阳性,现报告如下,并进行相关文献复习。1病例资料患者,男,38岁。2016年10月因"头晕、体检发现血红蛋白高1周"入院。自诉既往体检曾查血红蛋白略偏高,未在意,无不适症状。

To explore the correlation between polycythemia and CALR gene,we analyzed clinical features,morphology,pathology,gene mutation from one case and reviewed relevant literatures.The patient felt dizzy and had high blood pressure.Bone marrow morphology showed erythrocyte hyperplasia was obviously active and accounted for 49% of nuclear cells.The pathological results of bone marrow biopsy showed that the proliferation of nuclear cells decreased,the hematopoietic tissue accounted for 20 VoL%,and the adipose tissue accounted for 75 VoL%.The mutation c.1142 A>C(p.E381 A) was found in CALR gene 9 exon,but not found in MPL gene 10 exon,JAK2-V617 F gene or BCR/ABL gene.Clinical studies have shown that CALR gene mutation is mainly in patients with primary thrombocythemia or myelofibrosis,rarely in patients with polycythemia.Meanwhile,the bone marrow pathology is not consistent with primary polycythemia.So we considered that the patient may be at an early stage of a myelo proliferous tumor.It is necessary to monitor the bone marrow morphology regularly.