A new molecular marker for myeloproliferative neoplasms:CALR mutations / 中华检验医学杂志

ABSTRACT

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.