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Faculty of Medicine School of Medicine Department of Developmental and Urological-Reproductive Medicine, Pediatrics |
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MORITAKE Hiroshi
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Research Areas 【 display / non-display 】
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Life Science / Embryonic medicine and pediatrics
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Life Science / Hematology and medical oncology
Papers 【 display / non-display 】
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Yamada A., Nagasawa S., Nakagawa M., Kamimura S., Inoue N., Watanabe H., Takagi M., Koga Y., Keino D., Nakayama H., Yoshimura J., Doi K., Mitsui J., Tsuji S., Moritake H.
Human Cell 39 ( 8 ) 2026.8
Language：English Publishing type：Research paper (scientific journal) Publisher：Human Cell
Germline variants in leukemia predisposition genes are increasingly detected in pediatric patients. Nevertheless, the rare variants identified in diagnostic samples may be misinterpreted without variant-level functional evaluation and cautious clinical interpretation. Whole-exome sequencing was performed on 28 individuals from five kindreds in which at least two children developed acute leukemia. Results identified a rare ETV6 variant, c.604C > G (p.Arg202Gly), in monozygotic twins with ETV6::RUNX1-positive B-cell precursor acute lymphoblastic leukemia. To support variant interpretation, HeLa-cell populations stably expressing FLAG-tagged wild-type ETV6 and p.Arg202Gly and the known loss-of-function control p.Pro214Leu were established. Subcellular localization was assessed via immunofluorescence microscopy with quantitative scoring. Transcriptional repression was evaluated using luciferase reporter assays driven by ETV6 target promoters (MMP3 and PF4). p.Arg202Gly predominantly showed nuclear localization comparable to WT, whereas p.Pro214Leu was enriched in the cytoplasm. In the reporter assays, similar to WT, p.Arg202Gly retained repression activity. Meanwhile, p.Pro214Leu failed to repress both reporters. The in-silico prediction of nuclear export sequences suggested an additional export signal in p.Pro214Leu, but not in p.Arg202Gly. Collectively, these findings indicate that p.Arg202Gly behaves as WT-like in the assays performed and do not support a loss-of-function effect. Our study emphasizes the importance of variant-level functional assessment for rare ETV6 variants to inform clinical interpretation and avoid overestimation of pathogenicity.
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Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity. Reviewed
Fagniez I, Tsumura M, Guerin A, Abolhassani H, Sharafian S, Mesdaghi M, Nishimura T, Lashkari HP, Rao S, Richards S, Han JE, Delmonte OM, Kergaravat C, Markle JG, Ogishi M, Han J, Peel J, Vellutini J, Feng Y, Soudée C, Migaud M, Palterer B, Jackson KJL, Nishimura S, Sakata S, Kinoshita K, Yamamoto A, Moritake H, Alzahrani M, Vallejos F, Cole TL, Smart JM, Choo S, Chavoshzadeh Z, Armin S, Toubert A, Zhang P, Rosain J, Notarangelo LD, Pan-Hammarstrom Q, Tangye SG, Casanova JL, Ma CS, Puel A, Bustamante J, Okada S, Boisson-Dupuis S, Yang R
medRxiv : the preprint server for health sciences 2026.7
Language：English Publishing type：Research paper (scientific journal)
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盛武 浩
Haematologica 111 ( 4 ) 1235 - 1245 2026.4
Language：English Publishing type：Research paper (scientific journal) Publisher：Ferrata Storti Foundation (Haematologica)
Driver mutations in KMT2A-rearranged (KMT2A-r) have been identified in acute myeloid leukemia (AML); however, age-related differences in their frequency and prognostic factors remain unclear. In this study, we report age-specific mutation profiles and outcomes in pediatric patients with KMT2A-r AML. In 239 cases of KMT2A-r AML, infants (<1 year, n = 59) showed a significantly higher event-free survival (EFS) and overall survival (OS) compared with children (≥1 year, n = 180). Conversely, in 538 cases of non-KMT2A-r AML, infants exhibited a significantly lower EFS and OS than children. KMT2A::MLLT4 was only detected in children with KMT2A-r AML and was associated with a poor prognosis. In KMT2A-r AML, mutations in signaling pathway genes, such as KRAS, were frequently detected in infants and children. However, the frequency of non-signaling pathway mutations was significantly higher in children. Moreover, non-signaling pathway mutations had no significant effect on the prognosis in infants and children, whereas KRAS mutations were associated with poor prognosis in both groups. Multivariate analysis identified older age, a high white blood cell count, KMT2A::MLLT4, and KRAS mutations as independent adverse prognostic factors for both EFS and OS. These age-specific mutation profiles suggest distinct disease mechanisms across age groups and may help refine risk stratification and treatment strategies for pediatric KMT2A-r AML.
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Nakamura-Utsunomiya A, Hasegawa K, Ono T, Kanno J, Shima H, Suzuki Y, Tanaka M, Ikegawa K, Amano N, Mogami Y, Yamada Y, Futagawa N, Higuchi Y, Sasaoka D, Nagamatsu F, Mori J, Kawai M, Moritake H, Nishi M, Matsuo M
The Journal of clinical endocrinology and metabolism 111 ( 8 ) 2232 - 2241 2026.3
Language：English Publishing type：Research paper (scientific journal) Publisher：Journal of Clinical Endocrinology and Metabolism
Context: The early diagnosis of ROHHAD (-NET) syndrome is hard for pediatricians and endocrinologists because some symptoms, including rapid-onset obesity and autonomic dysfunction, are nonspecific and detected progressively. An autoimmune mechanism involving ZSCAN1 antibody is proposed to contribute to the pathogenesis of the disease. However, the clinical significance of the anti-ZSCAN1 antibody titer remains unestablished. Objective: This work aims to clarify the clinical features at onset or first visit to hospitals and the significance of anti-ZSCAN1 and anti-Na<inf>x</inf> antibody titers by enzyme-linked immunosorbent assay in patient serum. Methods: An observational cohort study was conducted of patients diagnosed clinically with ROHHAD (-NET) syndrome in Japan. Results: Obesity was observed in 72.7% of cases, while autonomic dysregulation and central hypoventilation were observed in 18.2% and 36.2% of cases, respectively. Serum prolactin levels measured at the initial consultation were significantly elevated in all cases. Antibody analyses revealed positivity in 70% of 30 cases. The anti-ZSCAN1 antibody titer associated with neural crest tumors (NCTs) was significantly higher than that without tumors. In a patient with NCT, the trend of anti-ZSCAN1 antibody titer tended to be decreased after tumor resection or immunosuppressive therapy. Conclusion: This study suggests that we need to evaluate clinically and in detail the autonomic dysregulation and hypoventilation to diagnose ROHHAD (-NET) syndrome in its early stages. Additionally, anti-ZSCAN1 antibody titers reflect the association of NCTs and may serve as a potential marker for the efficacy of tumor therapy. We also propose the anti-ZSCAN1 antibody titer as an indicator for the clinical management of ROHHAD (-NET) syndrome.
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T1 mapping on cardiac magnetic resonance of myocardial calcification after septic shock Reviewed
高橋 雅子, 兒玉 祥彦, 圓﨑 将大, 永澤 俊, 山田 愛, 盛武 浩
Pediatrics international : official journal of the Japan Pediatric Society 68 ( 1 ) e70337 2026.2
Language：English Publishing type：Research paper (scientific journal) Publisher：Wiley
Books 【 display / non-display 】
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今日の治療指針
盛武 浩（ Role： Joint author , 小児の白血病）
医学書院 2021 （ ISBN:978-4-260-04283-3 ）
Responsible for pages：1494-1495 Language：Japanese Book type：Textbook, survey, introduction
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血液専門医テキスト 改訂第3版
盛武 浩（ Role： Joint author , 小児の急性骨髄性白血病）
南江堂 2019
Responsible for pages：456-460 Language：Japanese Book type：Textbook, survey, introduction
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鉄欠乏性貧血. 小児疾患診療のための病態生理3 改訂第5版.
盛武 浩（ Role： Sole author）
東京医学社 2016
Language：Japanese Book type：Textbook, survey, introduction
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白血球と分画
盛武 浩（ Role： Sole author）
今日の小児診断指針 2004.7
Language：Japanese Book type：Scholarly book
MISC 【 display / non-display 】
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Successful Treatment of Mediastinal Anthracycline Extravasation by Administration of Dexrazoxane Reviewed
Kuroki Y., Nagasawa S., Yamada A., Moritake H.
Pediatric Blood and Cancer 73 ( 2 ) e70026 2026.2
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Pediatric Blood and Cancer
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T1 mapping on cardiac magnetic resonance of myocardial calcification after septic shock Reviewed
Takahashi M., Kodama Y., Takamura K., Enzaki M., Nagasawa S., Yamada A., Moritake H.
Pediatrics International 68 ( 1 ) e70337 2026.1
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Pediatrics International
DOI： 10.1111/ped.70337
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Nagasawa S., Yamada A., Nakamura E., Oba U., Moritake H.
Pediatrics International 68 ( 1 ) e70399 2026.1
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Pediatrics International
DOI： 10.1111/ped.70399
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Tomizawa D., Matsubayashi J., Iwamoto S., Hiramatsu H., Hasegawa D., Moritake H., Hasegawa D., Terui K., Hama A., Tsujimoto S.I., Kiyokawa N., Miyachi H., Deguchi T., Hashii Y., Iijima-Yamashita Y., Taki T., Noguchi Y., Koike K., Koh K., Yuza Y., Saito A.M., Horibe K., Taga T., Tanaka S., Adachi S.
Leukemia 38 ( 1 ) 202 - 206 2024
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Leukemia
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KRAS G12 mutations as adverse prognostic factors in KMT2A-rearranged acute myeloid leukemia Reviewed
Iyoda S., Yoshida K., Shoji K., Ito N., Tanaka M., Nannya Y., Yamato G., Tsujimoto S., Shiba N., Hayashi Y., Shiozawa Y., Shiraishi Y., Chiba K., Okada A., Tanaka H., Miyano S., Koga Y., Goto H., Moritake H., Terui K., Ito E., Kiyokawa N., Tomizawa D., Taga T., Tawa A., Takita J., Nishikori M., Adachi S., Ogawa S., Matsuo H.
Leukemia 38 ( 7 ) 1609 - 1612 2024
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Leukemia
Presentations 【 display / non-display 】
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COVID-19 ワクチン接種後に発症した心膜心筋炎
二見 加菜、髙村 一成、山下 尚人、原田 雅子、澤 大介、盛武 浩
第91回日本小児科学会宮崎地方会, 宮崎
Event date： 2022.3.20
Presentation type：Oral presentation (general)
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発症早期に免疫修飾治療を開始したラスムッセン脳炎
山本 夏穂、 下田 貴史、 森 こずえ、 前田 謙一、 木許 恭宏、 池田 俊郎、 盛武 浩
第91回日本小児科学会宮崎地方会, 宮崎
Event date： 2022.3.20
Presentation type：Oral presentation (general)
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集団健診を契機に診断された頻拍誘発性心筋症２例
興梠 智子、髙村 一成、山下 尚人、原田 雅子、盛武 浩
第91回日本小児科学会宮崎地方会, 宮崎
Event date： 2022.3.20
Presentation type：Oral presentation (general)
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Clonal architecture and its prognostic significance in KMT2A-rearranged acute myeloid leukemia
Matsuo H, Yoshida K, Nannya Y, Kamikubo Y, Saito S, Koga Y, Moritake H, Terui K, Kawaguchi K, Okamoto Y,Nakayama H, Kanno M, Hino M, Akane Y, Inoue A, Shimada A, Goto H, Ueno H, Takita J, Yamato G, Shiba N, Hayashi Y, Shiraishi Y, Miyano S, Kiyokawa N, Tomizawa D, Taga T, Tawa A, Ogawa S, Adachi S
Event date： 2021.9.23 - 2021.9.25
Presentation type：Oral presentation (general)
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不明熱を呈し, リンパ節生検により診断に至ったTAFRO症候群の１例
小川 智香, 山元 綾子, 西村 豊樹, 盛武 浩
第90回日本小児科学会宮崎地方会, 宮崎
Event date： 2021.9.12
Presentation type：Oral presentation (general)
Awards 【 display / non-display 】
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日本白血病研究基金 一般研究賞（クレディセゾン賞）
2014.11 公益信託 日本白血病研究基金助成事業
盛武 浩
Award type：Award from publisher, newspaper, foundation, etc. Country：Japan
Grant-in-Aid for Scientific Research 【 display / non-display 】
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PDXマウスモデルを用いた再発難治小児急性骨髄性白血病の病態解明と新規治療法開発
Grant number：23K07337 2023.04 - 2026.03
独立行政法人日本学術振興会 科学研究費基金 基盤研究(C)
Authorship：Principal investigator
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Mfsd2遺伝子KOマウスを用いた、脳内ＤＨＡによるエネルギー代謝調節機構の解明
Grant number：16K09971 2018.04
科学研究費補助金 基盤研究(C)
KOマウスの脳の組織学的評価と、摂食行動およびエネルギー代謝特性、代謝関連遺伝子発現を評価する。
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網羅的遺伝子解析をとおして同定した家族性白血病原因遺伝子の機能解析
Grant number：16K10032 2016.04 - 2019.03
科学研究費補助金 基盤研究(C)
Authorship：Principal investigator
網羅的遺伝子解析をとおして同定した家族性白血病原因遺伝子と想定される2つの遺伝子変異の機能解析を行う
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家族性急性リンパ性白血病の原因遺伝子の探索
Grant number：25461600 2013.04 - 2016.03
科学研究費補助金 基盤研究(C)
Authorship：Principal investigator
家族性急性リンパ性白血病の原因遺伝子の探索
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Mfsd2遺伝子ノックアウトマウスにおけるエネルギー代謝特性の解明
Grant number：25461556 2013.04 - 2015.03
科学研究費補助金 基盤研究(C)
Authorship：Coinvestigator(s)
我々が作成したMfsd2遺伝子ノックアウトマウスにおけるエネルギー代謝特性を解析する