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

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.
PMID
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Calreticulin exon 9 mutations in myeloproliferative neoplasms.

CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable.

Authors

Mayor MeshTerms

Mutation

Keywords

MPL

Mutation

Myeloproliferative neoplasm

Triple-negative

Journal Title medical oncology (northwood, london, england)
Publication Year Start




PMID- 28389907
OWN - NLM
STAT- MEDLINE
DA  - 20170408
DCOM- 20170419
LR  - 20170419
IS  - 1559-131X (Electronic)
IS  - 1357-0560 (Linking)
VI  - 34
IP  - 5
DP  - 2017 May
TI  - Targeted next-generation sequencing identified novel mutations in triple-negative
      myeloproliferative neoplasms.
PG  - 83
LID - 10.1007/s12032-017-0944-z [doi]
AB  - 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.
FAU - Chang, Yu-Cheng
AU  - Chang YC
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
AD  - Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
FAU - Lin, Huan-Chau
AU  - Lin HC
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
FAU - Chiang, Yi-Hao
AU  - Chiang YH
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
FAU - Chen, Caleb Gon-Shen
AU  - Chen CG
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
AD  - Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
AD  - Institute of Molecular and Cellular Biology, National Tsing Hua University,
      Hsinchu, Taiwan.
FAU - Huang, Ling
AU  - Huang L
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
FAU - Wang, Wei-Ting
AU  - Wang WT
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
FAU - Cheng, Chun-Chia
AU  - Cheng CC
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
FAU - Lin, Johnson
AU  - Lin J
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
FAU - Chang, Yi-Fang
AU  - Chang YF
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
AD  - Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
FAU - Chang, Ming-Chih
AU  - Chang MC
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
AD  - Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
FAU - Hsieh, Ruey-Kuen
AU  - Hsieh RK
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan.
FAU - Chen, Shu-Jen
AU  - Chen SJ
AD  - ACTGenomics, Co. Ltd., New Taipei City, Taiwan.
FAU - Lim, Ken-Hong
AU  - Lim KH
AUID- ORCID: http://orcid.org/0000-0003-2282-0416
AD  - Division of Hematology and Oncology, Department of Internal Medicine, MacKay
      Memorial Hospital, No. 92, Section 2, Zhongshan North Road, New Taipei City,
      10449, Taiwan. [email protected]
AD  - Laboratory of Good Clinical Research Center, Department of Medical Research,
      MacKay Memorial Hospital, Tamsui District, New Taipei City, Taiwan.
      [email protected]
AD  - Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
      [email protected]
AD  - Graduate Institute of Oncology, National Taiwan University College of Medicine,
      Taipei City, Taiwan. [email protected]
FAU - Kuo, Yuan-Yeh
AU  - Kuo YY
AD  - Graduate Institute of Oncology, National Taiwan University College of Medicine,
      Taipei City, Taiwan.
LA  - eng
PT  - Journal Article
DEP - 20170407
PL  - United States
TA  - Med Oncol
JT  - Medical oncology (Northwood, London, England)
JID - 9435512
RN  - 0 (Calreticulin)
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Receptors, Thrombopoietin)
RN  - 0 (calreticulin, human)
RN  - 143641-95-6 (MPL protein, human)
RN  - EC 2.7.10.2 (JAK2 protein, human)
RN  - EC 2.7.10.2 (Janus Kinase 2)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Calreticulin/genetics
MH  - DNA Mutational Analysis/methods
MH  - DNA, Neoplasm/blood/*genetics
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Janus Kinase 2/genetics
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Myeloproliferative Disorders/blood/*genetics
MH  - Receptors, Thrombopoietin/genetics
MH  - Sequence Analysis, DNA/methods
OTO - NOTNLM
OT  - MPL
OT  - Mutation
OT  - Myeloproliferative neoplasm
OT  - Triple-negative
EDAT- 2017/04/09 06:00
MHDA- 2017/04/20 06:00
CRDT- 2017/04/09 06:00
PHST- 2017/03/14 [received]
PHST- 2017/04/04 [accepted]
AID - 10.1007/s12032-017-0944-z [doi]
AID - 10.1007/s12032-017-0944-z [pii]
PST - ppublish
SO  - Med Oncol. 2017 May;34(5):83. doi: 10.1007/s12032-017-0944-z. Epub 2017 Apr 7.

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