دورية أكاديمية
The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up
| العنوان: | The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up |
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| المؤلفون: | Amina Kurtovic-Kozaric, Erna Islamagic, Hana Komic, Nurija Bilalovic, Izet Eminovic, Adnan Burekovic, Amna Uzunovic, Sabira Kurtovic |
| المصدر: | Biomolecules & Biomedicine, Vol 20, Iss 2 (2020) |
| بيانات النشر: | Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Biology (General) |
| مصطلحات موضوعية: | MPN, myeloproliferative neoplasm, JAK2, janus kinase 2, CALR, calreticulin, Biology (General), QH301-705.5 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2831-0896 2831-090X |
| Relation: | https://www.bjbms.org/ojs/index.php/bjbms/article/view/4391; https://doaj.org/toc/2831-0896; https://doaj.org/toc/2831-090X |
| DOI: | 10.17305/bjbms.2019.4391 |
| URL الوصول: | https://doaj.org/article/ac362a99fad3493080e63c73a3d946b4 |
| رقم الأكسشن: | edsdoj.362a99fad3493080e63c73a3d946b4 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 28310896 2831090X |
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| DOI: | 10.17305/bjbms.2019.4391 |