Ann Lab Med.  2017 Mar;37(2):159-161. 10.3343/alm.2017.37.2.159.

Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations

• Kubuki Y
• Shide K
• Kameda T
• Yamaji T
• Sekine M
• Kamiunten
• Akizuki K
• Shimoda H
• Tahira Y
• Nakamura K
• Abe H
• Miike T
• Iwakiri H
• Tahara Y
• Sueta M
• Hashimoto
• Yamamoto S
• Hasuike S
• Hidaka T
• Nagata K
• Kitanaka A
• Shimoda K

• KMID: 2373635
• DOI: http://doi.org/10.3343/alm.2017.37.2.159

Abstract

No abstract available.

MeSH Terms

Adolescent
Adult
Age Factors
Aged
Aged, 80 and over
Amino Acid Sequence
Calreticulin/*genetics
Child
DNA/chemistry/genetics/metabolism
Exons
Female
Humans
Janus Kinase 2/*genetics
Male
Middle Aged
Molecular Sequence Data
Polymorphism, Single Nucleotide
Receptors, Thrombopoietin/genetics
Sequence Analysis, DNA
Sex Factors
Thrombocythemia, Essential/*diagnosis/genetics
Young Adult
Calreticulin
DNA
Janus Kinase 2
Receptors, Thrombopoietin

Figure

• 

  Fig. 1 Mutational status in 149 patients with ET. (A) Frequency of JAK2, CALR, and MPL mutations in ET. Eighteen percent of patients were negative for all three kinds of mutations. (B) Analysis of the CALR C-terminal amino acid (AA) sequence. In addition to the common Type 1 and Type 2 mutations, nine types of CALR exon 9 mutations were observed in one case each. All mutation types resulted in +1 bp frameshifts and led to a novel C-terminal peptide sequence, in which the KDEL motif was absent and positively charged AAs (red text) were substituted for negatively charged AAs (blue text).Abbreviations: ET, essential thrombocythemia; WT, wild type.

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