Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms

Ruxolitinib vs best available therapy for ET intolerant or resistant to hydroxycarbamide

“…23 An analysis of histological features is currently being performed, and these data are not being presented as part of this article.…”

Next-generation deep-sequencing detects multiple clones of CALR mutations in patients with BCR-ABL1 negative MPN

“…12 It was shown that targeted NGS had the best limit of detection down to 1% in comparison to Sanger sequencing, fragment analysis and HRM, the latter being the least robust technique. However, it was discussed if a high sensitivity for CALR mutation detection is required since the frequency of patients with low mutation burdens was marginal (5%, 3/59 with <15% mutated reads).…”

Constitutional genetic association with CALR mutations?

“…We identified a total of 334 CALR-mutated MPN cases, as determined by fragment and/or sequence analysis. 7,13 Of these, 166 were heterozygous for rs1049481, 75 were homozygous GG and 93 were homozygous TT. The breakdown of these cases by CALR mutation type is given in Table 1.…”