CALR EXON 9 FRAMESHIFT

外显子9的插入和缺失已成为世卫组织对原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）诊断标准的一部分（Arber等人，2016年）。这些突变通常是杂合子，没有JAK2和MPL突变。大约80%的观察突变是1型（p.l367fs*46），52 bp缺失的结果，或2型（p.k385fs*47），5-bp TTGTC插入的结果，研究表明它们之间存在表型和预后差异。在pmf患者中，calr外显子9突变与中位生存率的提高有关。
Exon 9 insertions and deletions have become part of the WHO diagnostic criteria for essential thrombocythemia (ET) and primary myelofibrosis (PMF) (Arber et al, 2016). These mutations are typically heterozygous and in the absence of JAK2 and MPL mutations. Approximately 80% of observed mutations are type 1 (p.L367fs*46), the result of a 52 bp deletion, or type 2 (p.K385fs*47), the result of a 5-bp TTGTC insertion, and studies have suggested phenotypic and prognostic differences between them. In PMF patients, CALR exon 9 mutations have been associated with improved median survival.