The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up

Authors

  • Amina Kurtovic-Kozaric Department of Clinical Pathology, Cytology and Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina; Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0002-6063-7260
  • Erna Islamagic Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0002-1785-5035
  • Hana Komic Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0001-5209-393X
  • Nurija Bilalovic Department of Clinical Pathology, Cytology and Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina
  • Izet Eminovic Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0001-9392-3215
  • Adnan Burekovic Department of Internal Medicine, Clinical Hospital, Zenica, Bosnia and Herzegovina https://orcid.org/0000-0002-0152-6050
  • Amna Uzunovic Department of Internal Medicine, Clinical Hospital, Zenica, Bosnia and Herzegovina https://orcid.org/0000-0001-9707-3537
  • Sabira Kurtovic Department of Hematology, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina https://orcid.org/0000-0003-1353-3634

DOI:

https://doi.org/10.17305/bjbms.2019.4391

Keywords:

MPN, myeloproliferative neoplasm, JAK2, janus kinase 2, CALR, calreticulin, MPL, myeloproliferative leukemia virus, mutant allele burden

Abstract

The identification of mutually exclusive somatic mutations shared among myeloproliferative neoplasm (MPN) subtypes has provided a powerful tool for studying disease evolution. Clinical features, gene mutations, and survival over 18 years were analyzed in MPN patients. One hundred thirty-eight MPN patients were subcategorized according to MPN subtypes: essential thrombocythemia (ET, n = 41), polycythemia vera (PV, n = 56), primary myelofibrosis (PMF, n = 10), and MPN unclassified (MPN-U, n = 31). Patient characteristics included clinical parameters, overall survival (OS), and mutational status of the Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) genes. We compared hematologic and clinical features of JAK2V617F-ET vs. CALR-mutated ET vs. JAK2V617F-PV patients. JAK2V617F-patients had higher values of erythrocytes, hemoglobin, and hematocrit compared to CALR-mutated patients (p < 0.05). The mutant allele burden in JAK2V617F-PV and JAK2V617F-ET patients directly correlated with erythrocyte, hemoglobin, and hematocrit values, but it inversely correlated with platelet count. Thus, mutant allele burden was an indicator of the clinical phenotype in JAK2V617F-MPN patients. OS was not affected by the mutational status. In general, mutated JAK2, CALR, and MPL genes left specific hematological signatures.

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The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up

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Published

01-05-2020

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Translational and Clinical Research

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How to Cite

1.
The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up. Biomol Biomed [Internet]. 2020 May 1 [cited 2024 May 23];20(2):236-47. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/4391