The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up
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 p...
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| Format: | Article |
| Language: | English |
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Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2020-05-01
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| Series: | Biomolecules & Biomedicine |
| Subjects: | |
| Online Access: | https://www.bjbms.org/ojs/index.php/bjbms/article/view/4391 |
| _version_ | 1797260958088822784 |
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| author | Amina Kurtovic-Kozaric Erna Islamagic Hana Komic Nurija Bilalovic Izet Eminovic Adnan Burekovic Amna Uzunovic Sabira Kurtovic |
| author_facet | Amina Kurtovic-Kozaric Erna Islamagic Hana Komic Nurija Bilalovic Izet Eminovic Adnan Burekovic Amna Uzunovic Sabira Kurtovic |
| author_sort | Amina Kurtovic-Kozaric |
| collection | DOAJ |
| description |
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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| first_indexed | 2024-04-24T23:33:35Z |
| format | Article |
| id | doaj.art-ac362a99fad3493080e63c73a3d946b4 |
| institution | Directory Open Access Journal |
| issn | 2831-0896 2831-090X |
| language | English |
| last_indexed | 2024-04-24T23:33:35Z |
| publishDate | 2020-05-01 |
| publisher | Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina |
| record_format | Article |
| series | Biomolecules & Biomedicine |
| spelling | doaj.art-ac362a99fad3493080e63c73a3d946b42024-03-15T14:30:04ZengAssociation of Basic Medical Sciences of Federation of Bosnia and HerzegovinaBiomolecules & Biomedicine2831-08962831-090X2020-05-0120210.17305/bjbms.2019.4391The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-upAmina Kurtovic-Kozaric0https://orcid.org/0000-0002-6063-7260Erna Islamagic1https://orcid.org/0000-0002-1785-5035Hana Komic2https://orcid.org/0000-0001-5209-393XNurija Bilalovic3Izet Eminovic4https://orcid.org/0000-0001-9392-3215Adnan Burekovic5https://orcid.org/0000-0002-0152-6050Amna Uzunovic6https://orcid.org/0000-0001-9707-3537Sabira Kurtovic7https://orcid.org/0000-0003-1353-3634Department 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 HerzegovinaFaculty of Science, University of Sarajevo, Sarajevo, Bosnia and HerzegovinaFaculty of Science, University of Sarajevo, Sarajevo, Bosnia and HerzegovinaDepartment of Clinical Pathology, Cytology and Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and HerzegovinaFaculty of Science, University of Sarajevo, Sarajevo, Bosnia and HerzegovinaDepartment of Internal Medicine, Clinical Hospital, Zenica, Bosnia and HerzegovinaDepartment of Internal Medicine, Clinical Hospital, Zenica, Bosnia and HerzegovinaDepartment of Hematology, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina 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. https://www.bjbms.org/ojs/index.php/bjbms/article/view/4391MPNmyeloproliferative neoplasmJAK2janus kinase 2CALRcalreticulin |
| spellingShingle | Amina Kurtovic-Kozaric Erna Islamagic Hana Komic Nurija Bilalovic Izet Eminovic Adnan Burekovic Amna Uzunovic Sabira Kurtovic The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up Biomolecules & Biomedicine MPN myeloproliferative neoplasm JAK2 janus kinase 2 CALR calreticulin |
| title | The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up |
| title_full | The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up |
| title_fullStr | The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up |
| title_full_unstemmed | The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up |
| title_short | The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up |
| title_sort | effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in bosnia 18 year follow up |
| topic | MPN myeloproliferative neoplasm JAK2 janus kinase 2 CALR calreticulin |
| url | https://www.bjbms.org/ojs/index.php/bjbms/article/view/4391 |
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