Literatür Detay Bilgisi
Calreticulin mutations in Chinese with primary myelofibrosis

Yazarlar : Li B, Xu J, Wang J et al

Yayın : Haematologica

Yayın Yılı : 2014

Pubmed Linki : http://www.docguide.com/calreticulin-mutations-chinese-primary-myelofibrosis?tsid=5

Konu : Diğer

Literatür İçeriği :  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. 72 of 168 subjects (43%) without a JAK2 or MPL mutation had a CALR mutation. Subjects with type-2 CALR mutations had lower hemoglobin concentrations (P=0.001), lower WBC levels (P<0.001), higher percent blood blasts (P=0.009), and higher conventional (P<0.001) and Chinese-adjusted Dynamic International Prognostic Scoring System scores (P<0.001) compared with subjects with JAK2 mutations. These subjects were also likely to have abnormal platelet levels (<100x10E+9/L; P=0.01 or>450x10E+9/L; P=0.042) and no splenomegaly (P=0.004). Type-2 CALR mutation or no detectable mutation was an independent high-risk factor for survival in multivariate analyses. These data suggest the ratio between type-1 and -2 mutations is reversed in Chinese with primary myelofibrosis compared with populations of persons with primary myelofibrosis of predominately European descent. The unfavorable prognostic impact of CALR mutations in Chinese with primary myelofibrosis operate only in those with type-2 mutations. These data underscore the need to evaluate the prognostic impact of genetic mutations in different populations.


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