Clinical GenomicsSchool of Human Health Sciences

Associate professor Hidemasa Matsuo

This laboratory aims to improve the cure rate of hematologic malignancies by elucidating genomic abnormalities related to the onset and progression of the diseases and developing novel testing and treatment strategies based on these findings. The laboratory is mainly targeting students with a background in clinical laboratory science, and is striving to foster advanced medical professionals and researchers who can contribute to cancer genome medicine.

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Research and Education

We focus on acute myeloid leukemia (AML), and our main research targets are the identification of genomic abnormalities by next-generation sequencing and the development of new testing and treatment strategies based on these findings. We collaborate with Kyoto University Hospital and other medical institutions participating in the JCCG (Japan Children’s Cancer Group), which enables us to conduct highly original research using clinical specimens. Through participation in research, students are encouraged to learn basic techniques such as handling clinical specimens, cell culture, nucleic acid extraction, PCR, sequencing, and genome editing, as well as how to conduct researches.

Figure 1: Newly identified CCND3 mutations in pediatric and adult AML (Blood Adv. 2018). Figure 2: A novel adverse prognostic factor in MLL(KMT2A) rearranged AML: KRAS mutations (Blood Adv. 2020).



  1. Matsuo H, Inagami A, Ito Y, Ito N, Iyoda S, Harata Y, Higashitani M, Shoji K, Tanaka M, Noura M, Mikami T, Kato I, Takita J, Nakahata T, Adachi S. Parbendazole as a promising drug for inducing differentiation of acute myeloid leukemia cells with various subtypes. Commun Biol. 2024;7(1):123.
  2. Matsuo H, Kamada M, Imamura A, Shimizu M, Inagaki M, Tsuji Y, Hashimoto M, Tanaka M, Ito H, Fujii Y. Machine learning-based prediction of relapse in rheumatoid arthritis patients using data on ultrasound examination and blood test. Sci Rep. 2022;12(1):7224.
  3. Matsuo H, Wakita T, Hiramatsu H, Ohmori K, Kodama K, Nakatani K, Kamikubo Y, Iwamoto S, Kondo T, Takaori-Kondo A, Takita J, Tomizawa D, Taga T, Adachi S. Blast cells in acute megakaryoblastic leukaemia with Down syndrome are characterized by low CLEC12A expression. Br J Haematol. 2021;192(1):e7-e11.
  4. Matsuo H, Yoshida K, Nakatani K, Harata Y, Higashitani M, Ito Y, Kamikubo Y, Shiozawa Y, Shiraishi Y, Chiba K, Tanaka H, Okada A, Nannya Y, Takeda J, Ueno H, Kiyokawa N, Tomizawa D, Taga T, Tawa A, Miyano S, Meggendorfer M, Haferlach C, Ogawa S, Adachi S. Fusion partner-specific mutation profiles and KRAS mutations as adverse prognostic factors in MLL-rearranged AML. Blood Adv. 2020;4(19):4623-4631.
  5. Matsuo H, Yoshida K, Fukumura K, Nakatani K, Noguchi Y, Takasaki S, Noura M, Shiozawa Y, Shiraishi Y, Chiba K, Tanaka H, Okada A, Nannya Y, Takeda J, Ueno H, Shiba N, Yamato G, Handa H, Ono Y, Hiramoto N, Ishikawa T, Usuki K, Ishiyama K, Miyawaki S, Itonaga H, Miyazaki Y, Kawamura M, Yamaguchi H, Kiyokawa N, Tomizawa D, Taga T, Tawa A, Hayashi Y, Mano H, Miyano S, Kamikubo Y, Ogawa S, Adachi S. Recurrent CCND3 mutations in MLL-rearranged acute myeloid leukemia. Blood Adv. 2018;2(21):2879-2889.


Associate Professor: Hidemasa Matsuo


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