CAJ | 학술논문

骨髓增殖性肿瘤（ MPN）是骨髓中一种或多种髓系细胞增殖和外周血中成熟及不成熟细胞增加的克隆性造血干/祖细胞疾病。近年来，多个分子标志物，如JAK2（JAK2 V617F和JAK2外显子12）、MPL515和TET2突变等相继被发现，这些标志物的发现对于理解MPN的分子发病机制具有重要意义，也有助于对这类疾病的患者进行诊断和治疗。但是，有30％～45％的携有野生型JAK2/MPL的原发性血小板增多症（ ET）或原发性骨髓纤维化（ PMF）患者仍然存在诊断困难，新近报道的钙网蛋白基因（ CALR）突变将能部分填补这一空白，有望成为诊断骨髓增殖性肿瘤又一种新的分子标志物。（中华检验医学杂志，2014，37：649-652）
골수증식성종류（ MPN）시골수중일충혹다충수계세포증식화외주혈중성숙급불성숙세포증가적극륭성조혈간/조세포질병。근년래，다개분자표지물，여JAK2（JAK2 V617F화JAK2외현자12）、MPL515화TET2돌변등상계피발현，저사표지물적발현대우리해MPN적분자발병궤제구유중요의의，야유조우대저류질병적환자진행진단화치료。단시，유30％～45％적휴유야생형JAK2/MPL적원발성혈소판증다증（ ET）혹원발성골수섬유화（ PMF）환자잉연존재진단곤난，신근보도적개망단백기인（ CALR）돌변장능부분전보저일공백，유망성위진단골수증식성종류우일충신적분자표지물。（중화검험의학잡지，2014，37：649-652）
Myeloproliferative neoplasms ( MPN ) are clonal hematopoietic stem cell diseases characterized by proliferation of one or more myeloid cell lineages in the bone marrow and increased mature and immature cells inperipheral blood.In recent years , several molecular markers have been discovered , such as JAK2 (JAK2 V617F and JAK2 exon12),MPL515 and TET2 mutations and so on.The discoveries provide important significance of better understanding of the pathogenesis in MPNs and are helpful for the purposes of both diagnosis and therapy.However , diagnosis remains difficult in the remaining 30%-45% of patients who lack JAK2 or MPL mutations.Recently as was reported , the identification of CALR mutations will partly address a gap above and may be a new biomarker in the molecular diagnosis of MPNs .In this review,the discovery of CALR mutations in MPN will be introduced.