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. 2018 Nov;46(11):4650-4659.
doi: 10.1177/0300060518787719. Epub 2018 Aug 7.

Correlation analysis between JAK2, MPL, and CALR mutations in patients with myeloproliferative neoplasms of Chinese Uygur and Han nationality and their clinical characteristics

Tao Lang  1 , Yuling Nie  1 , Zengsheng Wang  1 , Qin Huang  1 , Li An  1 , Yichun Wang  1 , Guzailinuer Wufuer  1 , Aziguli Maimaiti  1 , Ling Fu  1 , Yan Li  1 , Xiaoyan Zhang  1 , Aihemaitijiang Aisimutula  1 , Xiaomin Wang  1 , Lin Zhu  1 , Hong Liu  1 , Min Mao  1
Affiliations

Correlation analysis between JAK2, MPL, and CALR mutations in patients with myeloproliferative neoplasms of Chinese Uygur and Han nationality and their clinical characteristics

Tao Lang et al. J Int Med Res. 2018 Nov.

Abstract

Background: Genetic factors play a role in the etiology of BCR-ABL-negative myeloproliferative neoplasms (MPNs). This study explored the relationship between mutations in the Janus kinase 2 gene ( JAK2), MPL, and the calreticulin gene ( CALR) in Uygur and Han Chinese patients with BCR-ABL fusion gene-negative MPN and corresponding clinical features.

Methods: A total of 492 BCR-ABL-negative MPN patients treated in our hospital from May 2013 to August 2016 were enrolled. Genomic DNA was extracted from peripheral blood and used for PCR amplification and DNA sequencing. Mutations including JAK2 V617F, MPL W515L/K, and those in JAK2 exon 12 and CALR were analyzed and compared with patient clinical characteristics.

Results: Of the 492 MPN patients, 169 were Uygur and 323 were Han. In these two patient groups, JAK2 mutations were detected in 39.64% and 52.63%, respectively, CALR mutations were detected in 10.06% and 20.43%, respectively, and MPL mutations were detected in 0.93% of Han patients. The age, white blood cell count, platelet levels, and hemoglobin levels in JAK2 in Han patients were higher than those in Uygur patients.

Conclusion: Han MPN patients harboring JAK2 mutations had higher level of age, WBC, PLT, and Hb than Uyghur patients with the same mutations.

Keywords: CALR; JAK2; MPL; myeloproliferative neoplasms; primary thrombocytosis; single nucleotide polymorphism.

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Figures

Figure 1.
Figure 1.
Sequencing chromatogram of mutations in JAK2, CALR, and MPL. (a) Heterozygous mutation “G to A” in JAK2 V617F. (b) Wild-type JAK2 V617F sequence. (c) Wild-type JAK2 exon 12 sequence. (d) K539L mutation in JAK2 exon 12. (e) JAK2 exon 12 N542-E543del. (f) Wild-type CALR L367fs*46. (g) Mutant CALR L367fs*46. (h) Wild-type CALR K385fs*47. (i) Mutant CALR K385fs*47. (j) TGG to TTG conversion in MPL W515L. (k) TGG to AAG conversion in MPL W515K.
Figure 2.
Figure 2.
Mutation percentages of JAK2, MPL, and CALR in patients with PMF, ET, and PV. (a) Gene mutation proportion in PMF patients. (b) Gene mutation proportion in ET patients. (c) Gene mutation proportion in PV patients.
See this image and copyright information in PMC

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