Co-occurrence of type I CALR and two MPL mutations in patient with primary myelofibrosis
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Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by recurrent somatic mutations in JAK2, CALR, and MPL genes. Although these mutations were initially reported to be mutually exclusive in MPN, several studies have reported the coexistence of JAK2 and CALR [1, 2, 3, 4, 5] as well as JAK2 and MPL mutations [6, 7]. Here, we report for the first time, to the best of our knowledge, a case of PMF with coexistence of CALR and two MPL mutations.
KeywordsSanger Sequencing Bone Marrow Biopsy Reticulin Myeloproliferative Neoplasm Variant Allele Frequency
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Conflict of interest
The authors declare that they have no conflict of interest.
- 3.McGaffin G et al (2014) JAK2 V617F and CALR mutations are not mutually exclusive; findings from retrospective analysis of a small patient cohort. Br J Haematol 2014 167(2):276–278Google Scholar