Two Novel Monoallelic Calreticulin Mutations in a Patient With Essential Thrombocythemia

Eniko Kamory, Thomas Schmidt, Cedric Broquere, Hartmut Peters, Berthold Hocher

Abstract


Recently, mutations have been identified in the calreticulin (CALR) gene in JAK2 or myeloproliferative leukemia negative patients with myeloproliferative neoplasm. A 49-year-old male patient with incidental thrombocytosis was investigated for CALR mutation by direct sequencing method. The patient carried two novel monoallelic somatic mutations, the L367fs*52 and the p.R368W in the CALR gen, which resulted in a novel C-terminal sequence. The absent endoplasmatic reticulum retention signal in the mutant CALR results in an altered subcellular localization of the mutant protein. The new positively charged C-terminal domain has an importance for oncogenicity, effecting different signaling pathways, activating the cytokine-independent growth of the cells and down-regulating the apoptotic signaling. But the new, alternative C-terminal domain offers an opportunity for immunologic therapy as it represents a cancer-specific epitope.




J Hematol. 2017;6(4):105-108
doi: https://doi.org/10.14740/jh335w


Keywords


Calreticulin; Essential thrombocythemia; Thrombocytosis; Monoallelic somatic mutations

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Journal of Hematology, quarterly, ISSN 1927-1212 (print), 1927-1220 (online), published by Elmer Press Inc.            
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