CALR mutations in Myeloproliferative Neoplasms
Journal
International Journal of Gerontology
Journal Volume
8
Journal Issue
2
Date Issued
2014
Author(s)
Lim, Ken-Hong
Lin, Huan-Chau
Chen, Caleb Gon-Shen
Chiang, Yi-Hao
Hsiao, Chung-Der
Abstract
detected in approximately 40% of patients with essential thrombocythemia (ET) in our cohort and others’ cohorts. With the help of the next-generation sequencing technique, two study groups have recently demonstrated a high frequency of calreticulin (CALR) exon 9 mutations in patients with JAK2V617F-negative ET and primary myelofibrosis 3,4 . What is important is that both studies showed that CALR exon 9 mutations are mutually exclusive with JAK2V617F and MPL mutations, and are not found in patients with polycythemia vera. In screening tests, CALR mutations are also present in a few other myeloid neoplasms such as myelodysplastic syndrome, but are absent in solid cancers. The discovery of CALR mutations in patients with JAK2 and MPL unmutated ET and primary myelofibrosis has largely filled the gap. We therefore propose that CALR mutations should be screened for during the work up of MPNs, especially in patients without the JAK2V617F mutation. Calreticulin is a calcium (Ca 2þ )-binding chaperone in the endo
SDGs
Type
journal article