Published in:
01-08-2016 | Letter to the Editor
JAK2, MPL, and CALR mutations in children with essential thrombocythemia
Authors:
Yuko Sekiya, Yusuke Okuno, Hideki Muramatsu, Olfat Ismael, Nozomu Kawashima, Atsushi Narita, Xinan Wang, Yinyan Xu, Asahito Hama, Hiroyuki Fujisaki, Toshihiko Imamura, Daiichiro Hasegawa, Yoshiyuki Kosaka, Shosuke Sunami, Yoshitoshi Ohtsuka, Shouichi Ohga, Yoshiyuki Takahashi, Seiji Kojima, Akira Shimada
Published in:
International Journal of Hematology
|
Issue 2/2016
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Excerpt
Essential thrombocythemia (ET) is an intractable clonal stem cell disorder characterized by a marked increase in platelet count [
1]. It is extremely rare among children. Somatic mutations in
JAK2 and
MPL cause ET, and recent comprehensive genomics studies of adult ET have identified
CALR, which encodes calreticulin, as a novel causative gene. Subsequent study revealed that genotype defines the clinical characteristics of ET [
2]; patients with
JAK2 mutations are at higher risk of thrombosis than those with
CALR mutations. These findings highlight the clinical importance of molecular diagnosis. …
