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Annals of Hematology

, Volume 96, Issue 9, pp 1471–1475 | Cite as

Detection of the circulating tumor DNAs in angioimmunoblastic T- cell lymphoma

  • Mamiko Sakata-YanagimotoEmail author
  • Rie Nakamoto-Matsubara
  • Daisuke Komori
  • Tran B. Nguyen
  • Keiichiro Hattori
  • Toru Nanmoku
  • Takayasu Kato
  • Naoki Kurita
  • Yasuhisa Yokoyama
  • Naoshi Obara
  • Yuichi Hasegawa
  • Atsushi Shinagawa
  • Shigeru ChibaEmail author
Original Article

Abstract

Recent genetic studies identified that the disease-specific G17V RHOA mutation, together with mutations in TET2, DNMT3A, and IDH2, is a hallmark of angioimmunoblastic T cell lymphomas (AITL). The diagnostic value of these mutations is now being investigated. Circulating tumor DNAs (ctDNAs) may offer a non-invasive testing for diagnosis and disease monitoring of cancers. To investigate whether these mutations are useful markers for ctDNAs in AITL and its related lymphomas, we performed targeted sequencing for TET2, RHOA, DNMT3A, and IDH2 in paired tumors and cell-free DNAs from 14 patients at diagnosis. Eighty-three percent of mutations detected in tumors were also observed in cell-free DNAs. During the disease course, mutations were detectable in cell-free DNAs in a refractory case, while they disappeared in a chemosensitive case. These data suggest that the disease-specific gene mutations serve as sensitive indicators for ctDNAs and may also be applicable for non-invasive monitoring of minimal residual diseases in AITL.

Keywords

AITL RHOA TET2 ctDNA Cell-free DNA 

Notes

Acknowledgments

This work was supported by Grants-in-Aid for Scientific Research (KAKENHI: 16H02660 to S.C.; JP16K15497 to M.S.-Y.) from the Ministry of Education, Culture, Sports, and Science of Japan and the Project for Cancer Research and Therapeutic Evolution (P-CREATE) from the Japan Agency for Medical Research and Development, AMED. This work was also supported by research grants from the Daiichi Sankyo Foundation of Life Science to M.S.-Y. and The Uehara Memorial Foundation to S.C.

Authorship and disclosures

M.S.-Y., R.N.-M., D.K., and S.C. designed and performed research, analyzed data, and wrote the paper; K.H., T.N., T.K., N.K., Y.Y., N.O., Y.H., and A.S. contributed to the sample collection and attended the vital discussion.

Compliance with ethical standards

Conflict of interest

All authors approved the final manuscript and have no financial conflicts of interest.

Supplementary material

277_2017_3038_MOESM1_ESM.pptx (101 kb)
Supplementary Figure 1 (PPTX 101 kb)
277_2017_3038_MOESM2_ESM.docx (19 kb)
Supplementary Table 1 (DOCX 18 kb)
277_2017_3038_MOESM3_ESM.docx (20 kb)
Supplementary Table 2 (DOCX 19 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Mamiko Sakata-Yanagimoto
    • 1
    • 2
    Email author
  • Rie Nakamoto-Matsubara
    • 3
  • Daisuke Komori
    • 3
  • Tran B. Nguyen
    • 3
  • Keiichiro Hattori
    • 3
  • Toru Nanmoku
    • 4
  • Takayasu Kato
    • 1
    • 2
  • Naoki Kurita
    • 1
    • 2
  • Yasuhisa Yokoyama
    • 1
    • 2
  • Naoshi Obara
    • 1
    • 2
  • Yuichi Hasegawa
    • 1
    • 2
  • Atsushi Shinagawa
    • 5
  • Shigeru Chiba
    • 1
    • 2
    Email author
  1. 1.Department of Hematology, Faculty of MedicineUniversity of TsukubaTsukubaJapan
  2. 2.Department of HematologyUniversity of Tsukuba HospitalTsukubaJapan
  3. 3.Department of Hematology, Comprehensive Human BiosciencesUniversity of TsukubaTsukubaJapan
  4. 4.Department of Clinical LaboratoryUniversity of Tsukuba HospitalTsukubaJapan
  5. 5.Department of Internal MedicineHitachi General HospitalHitachiJapan

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