Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study

Takahiko Yasuda, Masashi Sanada, Dai Nishijima, Takashi Kanamori, Yuka Iijima, Hiroyoshi Hattori, Akiko Saito, Hiroaki Miyoshi, Yuichi Ishikawa, Norio Asou, Kensuke Usuki, Shinsuke Hirabayashi, Motohiro Kato, Masaki Ri, Hiroshi Handa, Tadao Ishida, Hirohiko Shibayama, Masahiro Abe, Chisako Iriyama, Kennosuke KarubeMomoko Nishikori, Koichi Ohshima, Keisuke Kataoka, Kenichi Yoshida, Yuichi Shiraishi, Hiroaki Goto, Souichi Adachi, Ryoji Kobayashi, Hitoshi Kiyoi, Yasushi Miyazaki, Seishi Ogawa, Hiroki Kurahashi, Hisayuki Yokoyama, Atsushi Manabe, Shinsuke Iida, Akihiro Tomita, Keizo Horibe

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


Although next-generation sequencing-based panel testing is well practiced in the field of cancer medicine for the identification of target molecules in solid tumors, the clinical utility and clinical issues surrounding panel testing in hematological malignancies have yet to be fully evaluated. We conducted a multicenter prospective clinical sequencing study to verify the feasibility of a panel test for hematological tumors, including acute myeloid leukemia, acute lymphoblastic leukemia, multiple myeloma, and diffuse large B-cell lymphoma. Out of 96 eligible patients, 79 patients (82%) showed potentially actionable findings, based on the clinical sequencing assays. We identified that genetic alterations with a strong clinical significance were found at a higher frequency in terms of diagnosis (n = 60; 63%) and prognosis (n = 61; 64%) than in terms of therapy (n = 8; 8%). Three patients who harbored a germline mutation in either DDX41 (n = 2) or BRCA2 (n = 1) were provided with genetic counseling. At 6 mo after sequencing, clinical actions based on the diagnostic (n = 5) or prognostic (n = 3) findings were reported, but no patients were enrolled in a clinical trial or received targeted therapies based on the sequencing results. These results suggest that panel testing for hematological malignancies would be feasible given the availability of useful diagnostic and prognostic information. This study is registered with the UMIN Clinical Trial Registry (UMIN000029879, multiple myeloma; UMIN000031343, adult acute myeloid leukemia; UMIN000033144, diffuse large B-cell lymphoma; and UMIN000034243, childhood leukemia).

Original languageEnglish
Pages (from-to)3367-3378
Number of pages12
JournalCancer science
Issue number9
Publication statusPublished - 2020 Sept 1
Externally publishedYes


  • clinical sequencing
  • feasibility study
  • hematological malignancy
  • panel testing
  • potentially actionable finding

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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