OBJECTIVES: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. METHODS: Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). RESULTS: In 94.9% of PV, 85.5% ET and 85.2% PMF, we found mutations in JAK2, MPL or CALR. 74.9% carried JAK2V617F, 12.3% CALR mutations, 2.1% MPL mutations and 10.7% were triple negative. In ET, nine types of CALR mutations were identified, four of which were novel. PMF patients were limited to types 1 and 2, type 2 being more frequent. DISCUSSION: In ET, patients with CALR mutation were younger and had higher platelet counts than those with JAK2V617F and triple negative. In addition, JAK2V617F patients had high leucocyte and haemoglobin values compared with CALR-mutated and triple-negative patients. In PMF, patients with mutant CALR were associated with higher platelet counts. CONCLUSION: Our study underscores the importance of JAK2, MPL and CALR genotyping for accurate diagnosis of patients with BCR-ABL1-negative MPN.
OBJECTIVES: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. METHODS: Mutations of JAK2V617F, JAK2 exon 12, MPLW515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). RESULTS: In 94.9% of PV, 85.5% ET and 85.2% PMF, we found mutations in JAK2, MPL or CALR. 74.9% carried JAK2V617F, 12.3% CALR mutations, 2.1% MPL mutations and 10.7% were triple negative. In ET, nine types of CALR mutations were identified, four of which were novel. PMF patients were limited to types 1 and 2, type 2 being more frequent. DISCUSSION: In ET, patients with CALR mutation were younger and had higher platelet counts than those with JAK2V617F and triple negative. In addition, JAK2V617F patients had high leucocyte and haemoglobin values compared with CALR-mutated and triple-negative patients. In PMF, patients with mutant CALR were associated with higher platelet counts. CONCLUSION: Our study underscores the importance of JAK2, MPL and CALR genotyping for accurate diagnosis of patients with BCR-ABL1-negative MPN.
Authors: E Abedi; M Ramzi; M Karimi; R Yaghobi; H Mohammadi; E Bayat; M Moghadam; F Farokhian; M Dehghani; H A Golafshan; S Haghpanah Journal: Int J Organ Transplant Med Date: 2021
Authors: Hoang Anh Vu; Tran Thi Thao; Cao Van Dong; Nguyen Lam Vuong; Ho Quoc Chuong; Phan Nguyen Thanh Van; Huynh Nghia; Nguyen Tan Binh; Phu Chi Dung; Phan Thi Xinh Journal: Asian Pac J Cancer Prev Date: 2019-09-01
Authors: Tao Lang; Yuling Nie; Zengsheng Wang; Qin Huang; Li An; Yichun Wang; Guzailinuer Wufuer; Aziguli Maimaiti; Ling Fu; Yan Li; Xiaoyan Zhang; Aihemaitijiang Aisimutula; Xiaomin Wang; Lin Zhu; Hong Liu; Min Mao Journal: J Int Med Res Date: 2018-08-07 Impact factor: 1.671