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 pa...

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Bibliographic Details
Published in:Biomolecules & biomedicine 2020-05, Vol.20 (2), p.236-247
Main Authors: Kurtovic-Kozaric, Amina, Islamagic, Erna, Komic, Hana, Bilalovic, Nurija, Eminovic, Izet, Burekovic, Adnan, Uzunovic, Amna, Kurtovic, Sabira
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Bosnia and Herzegovina
CALR
calreticulin
Calreticulin - genetics
Development and progression
Female
Follow-Up Studies
Gene mutations
Genetic aspects
Health aspects
Humans
JAK2
janus kinase 2
Janus Kinase 2 - genetics
Leukemia
Lymphomas
Male
Middle Aged
MPN
Mutation - genetics
Myeloproliferative Disorders - genetics
Myeloproliferative Disorders - mortality
Myeloproliferative Disorders - pathology
myeloproliferative neoplasm
Phenotype
Physiological aspects
Receptors, Thrombopoietin - genetics
Survival Rate
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Summary: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.
ISSN:1512-8601
2831-0896
1840-4812
2831-090X
DOI:10.17305/bjbms.2019.4391