Somatic mutations of calreticulin in myeloproliferative neoplasms.

@article{Klampfl2013SomaticMO,
  title={Somatic mutations of calreticulin in myeloproliferative neoplasms.},
  author={Thorsten Klampfl and Heinz Gisslinger and Ashot S. Harutyunyan and Harini Nivarthi and Elisa Rumi and Jelena Milosevic and Nicole C. C. Them and Tiina Berg and Bettina Gisslinger and Daniela Pietra and Doris Chen and Gregory I. Vladimer and Klaudia Bagienski and Chiara Milanesi and Ilaria Carola Casetti and Emanuela Sant'Antonio and Virginia Valeria Ferretti and Chiara Elena and Fiorella Schischlik and Ciara Cleary and Melanie Six and Martin Schalling and Andreas Schoenegger and Christoph Bock and Luca Malcovati and Cristiana Pascutto and Giulio Superti-Furga and Mario Cazzola and Robert Kralovics},
  journal={The New England journal of medicine},
  year={2013},
  volume={369 25},
  pages={
          2379-90
        }
}
BACKGROUND Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL. [] Key Method Resequencing of CALR, encoding calreticulin, was then performed in cohorts of patients with myeloid neoplasms. RESULTS Somatic insertions or deletions in exon 9 of CALR were detected in all patients who underwent whole-exome sequencing…
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Calreticulin Mutations in Myeloproliferative Neoplasms
  • N. Lavi
  • Biology
    Rambam Maimonides medical journal
  • 2014
TLDR
The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF.
Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
TLDR
Genotyping for CALR could be a useful diagnostic tool for JAK2-or MPL-negative ET or PMF patients with myeloproliferative neoplasms, and may be a distinct disease group, with different hematological characteristics than that of Jak2-positive patients.
CALR Mutations in Myeloproliferative Neoplasms
Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations
TLDR
It is confirmed that calreticulin mutation is associated with distinct clinical characteristics and relationships between mutation type, load and clinical outcome are explored.
Calreticulin mutation profile in Indian patients with primary myelofibrosis
TLDR
CALR mutations have a distinct molecular profile in Indian patients, different from that of other studies worldwide, and larger prospective studies need to be designed to establish the impact of paucity of Type II mutations in contributing to disease phenotype and prognostic outcome of patients.
Somatic mutations of calreticulin in a Brazilian cohort of patients with myeloproliferative neoplasms
CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis.
TLDR
A significant proportion of familial ET and PMF nonmutated for JAK2 carry a somatic mutation of CALR, and patients with CALR-mutated ET showed a higher platelet count and a lower cumulative incidence of thrombosis and of disease progression compared with those withJAK2 (V617F).
The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia
TLDR
It was shown that MPN patients carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels compared to those with mutated JAK2, and all of the leukemia patients had negative results for CALR mutation.
Mutant Calreticulin in the Myeloproliferative Neoplasms
TLDR
The discovery and subsequent study of CALR mutations have illuminated novel aspects of megakaryopoiesis and raised the possibility of new therapeutic approaches, with CALR mutant patients showing increased overall survival.
Calreticulin Mutations in Bulgarian MPN Patients
TLDR
The study shows that the frequency and patterns of these mutations is identical to those in the patients’ cohorts from Western countries, and demonstrates the utility of four different methods for their detection.
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TLDR
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TET2 mutations occur in both JAK2V617F-positive and -negative MPN, are more prevalent in older patients, display similar frequencies across MPN subcategories and disease stages, and hold limited prognostic relevance.
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TLDR
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TLDR
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TLDR
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TLDR
EZH2 mutations are independently associated with shorter survival in patients with PMF and in multivariate analysis, survival of PMF patients was predicted by IPSS high-risk category, a < 25% JAK2V617F allele burden, and EZh2 mutation status.
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