| Autor: |
Vu HA; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Thao TT; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam. Email:bsphanthixinh@ump.edu.vn, Dong CV; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Vuong NL; Department of Medical Statistics and Informatics, Faculty of Public Health, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Chuong HQ; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Van PNT; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Nghia H; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam. Email:bsphanthixinh@ump.edu.vn; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Binh NT; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Dung PC; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Xinh PT; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam. Email:bsphanthixinh@ump.edu.vn; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam. |
| Abstrakt: |
Background: The picture of Vietnamese patients with essential thrombocythemia (ET) remains mostly undetermined. Our study intended to determine the frequency of JAK2V617F, CALR exon 9, and MPL exon 10 mutations as well as to analyze clinical characteristics associated with different mutational status in Vietnamese ET patients. Methods: We explored mutations of JAK2V617F, MPL, and CALR from 395 patients using allele specific oligonucleotide – polymerase chain reaction and Sanger sequencing techniques; then, the clinical and hematological features were compared according to mutation patterns. Results: We found that JAK2V617F, CALR exon 9, and MPL exon 10 mutations were present in 56.2%, 27.6%, and 1% of the 395 patients with ET, respectively. Twelve different types of CALR mutation were detected in 109 patients, with the CALR type 1 mutation (c.1099_1150del; L367fs*46) was the most common, followed by CALR type 2 mutation (c.1154_1155insTTGTC; K385fs*47). The JAK2V617F-positive patients had older age, higher white blood cell counts and higher hemoglobin levels but lower platelet counts than patients with CALR mutations or patients negative for triple tests. There was no significant difference regarding sex ratio, white blood cell counts, platelet counts and hemoglobin levels among CALR mutation subtypes. Conclusion: we reported high frequency of JAK2V617F, CALR, and MPL mutations in Vietnamese patients with ET and underscored the importance of combined genetic tests for diagnosis and classification of ET into different subtypes. |
