@article { author = {Vu, Hoang Anh and Thao, Tran Thi and Dong, Cao Van and Vuong, Nguyen Lam and Chuong, Ho Quoc and Van, Phan Nguyen Thanh and Nghia, Huynh and Binh, Nguyen Tan and Dung, Phu Chi and Xinh, Phan Thi}, title = {Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia}, journal = {Asian Pacific Journal of Cancer Prevention}, volume = {20}, number = {9}, pages = {2775-2780}, year = {2019}, publisher = {West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter.}, issn = {1513-7368}, eissn = {2476-762X}, doi = {10.31557/APJCP.2019.20.9.2775}, abstract = {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 asto analyze clinical characteristics associated with different mutational status in Vietnamese ET patients. Methods: Weexplored mutations of JAK2V617F, MPL, and CALR from 395 patients using allele specific oligonucleotide – polymerasechain reaction and Sanger sequencing techniques; then, the clinical and hematological features were compared accordingto mutation patterns. Results: We found that JAK2V617F, CALR exon 9, and MPL exon 10 mutations were present in56.2%, 27.6%, and 1% of the 395 patients with ET, respectively. Twelve different types of CALR mutation were detectedin 109 patients, with the CALR type 1 mutation (c.1099_1150del; L367fs*46) was the most common, followed byCALR type 2 mutation (c.1154_1155insTTGTC; K385fs*47). The JAK2V617F-positive patients had older age, higherwhite blood cell counts and higher hemoglobin levels but lower platelet counts than patients with CALR mutationsor 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 ofJAK2V617F, CALR, and MPL mutations in Vietnamese patients with ET and underscored the importance of combinedgenetic tests for diagnosis and classification of ET into different subtypes.}, keywords = {essential thrombocythemia,JAK2V617F,CALR,MPL,Vietnam}, url = {https://journal.waocp.org/article_88732.html}, eprint = {https://journal.waocp.org/article_88732_0a9b77309425f5913dc462a0eff56b58.pdf} }