Calreticulin mutations in Chinese with primary myelofibrosis

oleh: Bing Li, Junqing Xu, Jingya Wang, Robert Peter Gale, Zefeng Xu, Yajuan Cui, Lin Yang, Ruixian Xing, Xiaofei Ai, Tiejun Qin, Yue Zhang, Peihong Zhang, Zhijian Xiao

Format: Article
Diterbitkan: Ferrata Storti Foundation 2014-11-01

Deskripsi

We tested 357 Chinese with primary myelofibrosis for mutations in CALR, JAK2 and MPL. CALR mutations were detected in 76 subjects (21%). There were 24 (32%) type-1 (L367fs*46) and 49 (64%) type-2 (K385fs*47) mutations. Seventy-two of 168 subjects (43%) without a JAK2 or MPL mutation had a CALR mutation. Subjects with a type-2 CALR mutation had lower hemoglobin concentrations (P=0.001), lower WBC counts (P