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Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms.

Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms.
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Chang YC, Lin HC, Chiang YH, Chen CG, Huang L, Wang WT, Cheng CC, Lin J, Chang YF, Chang MC, Hsieh RK, Chen SJ, Lim KH, Kuo YY,


Chang YC, Lin HC, Chiang YH, Chen CG, Huang L, Wang WT, Cheng CC, Lin J, Chang YF, Chang MC, Hsieh RK, Chen SJ, Lim KH, Kuo YY, (click to view)

Chang YC, Lin HC, Chiang YH, Chen CG, Huang L, Wang WT, Cheng CC, Lin J, Chang YF, Chang MC, Hsieh RK, Chen SJ, Lim KH, Kuo YY,

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Medical oncology (Northwood, London, England) 2017 04 0734(5) 83 doi 10.1007/s12032-017-0944-z
Abstract

Mutations in JAK2, MPL and CALR genes have been identified in the majority of myeloproliferative neoplasm (MPN) patients, and patients negative for these three mutations are the so-called triple-negative (TN) MPN. In this study, we examined the mutational profiles of 16 triple-negative MPN patients including 7 essential thrombocythemia (ET), 1 primary myelofibrosis and 8 polycythemia vera (PV). Targeted next-generation sequencing was performed using the ACTOnco Comprehensive Cancer Panel (Ion AmpliSeq Comprehensive Cancer Panel, Life Technologies) to target all coding exons of 409 cancer-related genes. Overall, 30 nonsynonymous somatic mutations were detected in 12 (75%) patients with a range of 1-5 mutations per sample. Notably, one ET patient was found to have JAK2V617F and KITP551L mutations at very low allele frequency. One MPLP70L and 1 MPLM602T mutations were identified each in 1 ET and 1 PV, respectively. Other recurrent mutations were also identified including KMT2C, KMT2D, IRS2, SYNE1, PDE4DIP, SETD2, ATM, TNFAIP3 and CCND2. In addition, germline mutations were also found in some cancer-related genes. Copy number changes were rare in this cohort of TN MPNs. In conclusion, both somatic and germline mutations can be detected in TN MPN patients.

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