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

Bosnian Journal of Basic Medical Sciences

Erna Islamagic¹  Izet Eminovic²  Amina Kurtovic-Kozaric²  Sabira Kurtovic³  Amna Uzunovic³  NurijaBilalovic⁴  Adnan Burekovic⁴  Hana Komic⁴ 

[1] Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina;Department of Clinical Pathology, Cytology and Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina;Department of Internal Medicine, Clinical Hospital, Zenica, Bosnia and Herzegovina;Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina;

关键词: MPN;    myeloproliferative neoplasm;    JAK2;    janus kinase 2;    CALR;    calreticulin;   

DOI  :  10.17305/bjbms.2019.4391

来源: DOAJ

【 摘 要 】

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, and mutational status of the JAK2, CALR, and 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.

【 授权许可】

Unknown