骨髓增殖性肿瘤的新分子标志物钙网蛋白基因突变

A new molecular marker for myeloproliferative neoplasms：CALR mutations

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）

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.