論文 - 盛武 浩
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KIT D816変異陽性全身性肥満細胞症から進展し傍脊髄髄外病変に陽子線治療を施行した急性骨髄性白血病 査読あり
原尾拓朗、山田愛、木下 真理子、澤大介、齋藤祐介、上村幸代、宮地勇人、萩野尚、盛武浩
日本小児血液・がん学会雑誌 55 ( 4 ) 314 - 314 2018年10月
掲載種別：研究論文（学術雑誌）
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Adalimumab for treatment of hemophagocytic syndrome following unrelated bone marrow transplantation in a boy with Behcet's disease and secondary myelodysplastic syndrome 査読あり 国際誌
Noguchi M, Moritake H, Kamimura S, Sonoda M, Ishimura M, Inagaki J
Bone Marrow Transplant 53 ( 9 ) 1214 - 1217 2018年9月
記述言語：英語 掲載種別：研究論文（学術雑誌）
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横紋筋融解を契機に判明したCPT2欠損症の兄弟例 査読あり
麻田 智子, 宇藤山 麻衣子, 松山 美靜代, 盛武 浩, 澤田 浩武, 原 圭一, 但馬 剛
日本先天代謝異常学会雑誌 34 214 - 214 2018年9月
掲載種別：症例報告
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EVI1は白血病発症に関わる代謝リプログラミングを制御する 査読あり
齋藤 祐介, 澤 大介, 木下 真理子, 山田 愛, 上村 幸代, 曽我 朋義, 森下 和広, 盛武 浩
臨床血液 59 ( 9 ) 1507 - 1507 2018年9月
掲載種別：研究論文（学術雑誌）
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PLCE1遺伝子変異を認めた巣状分節性糸球体硬化症の1歳児例 査読あり
下田 貴史, 今村 秀明, 此元 隆雄, 中西 啓太, 野津 寛大, 飯島 一誠, 阪口 嘉美, 久野 敏, 盛武 浩
日本小児腎不全学会雑誌 38 197 - 200 2018年7月
記述言語：日本語 掲載種別：症例報告
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軽症溶血性尿毒症症候群後に紫斑病性腎炎を発症した児の腎病理像 査読あり
黒木 純, 今村 秀明, 阪口 嘉美, 田中 悦子, 織田 真悠子, 此元 隆雄, 久野 敏, 盛武 浩
日本小児腎不全学会雑誌 38 214 - 216 2018年7月
記述言語：日本語 掲載種別：研究論文（学術雑誌）
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Shimada A., Iijima-Yamashita Y., Tawa A., Tomizawa D., Yamada M., Norio S., Watanabe T., Taga T., Iwamoto S., Terui K., Moritake H., Kinoshita A., Takahashi H., Nakayama H., Koh K., Goto H., Kosaka Y., Saito A., Kiyokawa N., Horibe K., Hara Y., Oki K., Hayashi Y., Tanaka S., Adachi S.
International Journal of Hematology 107 ( 5 ) 586 - 595 2018年5月
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：International Journal of Hematology
© 2018, The Japanese Society of Hematology. Acute myeloid leukemia harboring internal tandem duplication of FMS-like tyrosine kinase 3 (AMLFLT3-ITD) is associated with poor prognosis. We evaluated the results of the AML-05 study, in which all AMLFLT3-ITD patients were assigned to receive hematopoietic stem cell transplantation (HSCT) in the first remission (1CR). We also investigated the effects of additional genetic alterations on FLT3-ITD. The 5-year overall survival (OS) and event-free survival (EFS) rates among the 47 AMLFLT3-ITD patients were 42.2 and 36.8%, respectively. The 5-year disease-free survival rate among 29 patients without induction failure was 58.4%. We defined the allelic ratio (AR) of FLT3-ITD to WT > 0.7 as high. Significant differences were found in OS (AR-high, 20% vs. AR-low, 66%, p < 0.001) and EFS (13 vs. 50%, p = 0.004). All five patients with concurrent NPM1 mutations survived, while seven of eight patients who expressed the NUP98-NSD1 chimera failed to achieve 1CR and died. Multivariate analysis revealed that AR > 0.7 and expression of the NUP98-NSD1 chimera strongly impacted OS and EFS. Although all the AMLFLT3-ITD patients received HSCT at 1CR, the treatment outcome of AMLFLT3-ITD patients did not improve compared with those in a previous study. Heterogeneity was observed among AMLFLT3-ITD patients.
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代理ミュンヒハウゼン症候群による食塩中毒が疑われた重症心身障害者例 査読あり
高村 一成, 今村 秀明, 谷口 英里奈, 木許 恭宏, 池田 俊郎, 此元 隆雄, 日高 倫子, 大山 龍介, 盛武 浩
日本小児体液研究会誌 10 39 - 43 2018年5月
記述言語：日本語 掲載種別：研究論文（学術雑誌）
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Diagnosis of pediatric neuroblastoma by urine cytology: A case report. 査読あり
Nishikawa S., Noguchi H., Tokumitsu T., Ohno A., Moriguchi-Goto S., Maekawa K., Asada Y., Moritake H., Kinoshita M., Yamada A., Takamura K., Sato Y.
Diagnostic cytopathology 46 ( 3 ) 280 - 283 2018年3月
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Kinoshita M., Yamada A., Sawa D., Kamimura S., Miyachi M., Moritake H.
Pediatric Blood and Cancer 65 e26750 2018年1月
担当区分：責任著者 記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Pediatric Blood and Cancer
© 2017 Wiley Periodicals, Inc. A 3-year-old male presented with a large retroperitoneal mass and multiple metastases. Biopsy results suggested alveolar rhabdomyosarcoma bearing a methylated O6-methylguanine-DNA methyltransferase (MGMT) gene promoter. Serum microRNA-206 levels were elevated and remained high after three cycles of vincristine, dactinomycin, and cyclophosphamide (VAC). Replacement of vincristine, irinotecan, and temozolomide (VIT) for VAC induced a marked tumor reduction and normalization of the miR-206 levels. The patient completed 14 cycles of VIT with local radiotherapy and has been in remission for 31 months. Temozolomide could be effective for tumors with a methylated MGMT gene promoter. Individualized therapy is warranted for such patients.
DOI： 10.1002/pbc.26750
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Diagnosis, surveillance, and management of familial leukemia 査読あり
Moritake H
[Rinsho ketsueki] The Japanese journal of clinical hematology 59 ( 10 ) 2290 - 2299 2018年
担当区分：筆頭著者, 責任著者 記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：一般社団法人 日本血液学会
Fanconi貧血やLi-Fraumeni症候群をはじめとして，生殖細胞遺伝子変異を原因として家族性に白血病が発症することは知られていたが，近年のゲノム解析技術の進歩により体細胞のみならず造血器腫瘍発症素因となる生殖細胞変異が次々に同定されている。それらはDNA修復，リボソーム合成，テロメア生物学，造血系転写因子，がん抑制，好中球分化，ほかの重要な細胞内プロセスに関与するものなど様々であり，先天奇形合併例，骨髄異形成症候群の早期発症例，白血病発症まで症状がない例など表現型も多種多様である。これらの症例における変異同定は診断に有効なだけでなく，その後のサーベイランス，治療介入決定にも有用である。家族性白血病の場合，通常は小児が注目されるが，高齢者を含んだどの年齢層にも存在するという認識が重要である。また診断確定後の遺伝カウンセリングは不可欠であり，各疾患の専門家への速やかな紹介が推奨される。
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けいれん重積型急性脳症と鑑別を要した乳児揺さぶり症候群の１例 査読あり
服部 洋平,門田 善仁,東 美菜子,陣内 崇,盛武 浩,平井 俊範
宮崎県医師会医学会誌 42 207 - 211 2018年
記述言語：日本語 掲載種別：症例報告
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小児急性リンパ性白血病のvery late relapse例の予後 九州・山口小児がん治療研究グループ(KYCCSG)ALL 96/02研究 査読あり
野口 磨依子, 稲垣 二郎, 岡本 康裕, 古賀 友紀, 大園 秀一, 新小田 雄一, 中山 秀樹, 盛武 浩, 堀田 紀子, 糸長 伸能, 野村 優子, 下之段 秀美, 市村 卓也, 日高 靖文, 河野 嘉文
日本小児血液・がん学会雑 54 ( 5 ) 393 - 397 2018年
記述言語：日本語 掲載種別：研究論文（学術雑誌）
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Nakayama H., Tomizawa D., Tanaka S., Iwamoto S., Shimada A., Saito A., Yamashita Y., Moritake H., Terui K., Taga T., Matsuo H., Kosaka Y., Koh K., Hosoi H., Kurosawa H., Isoyama K., Horibe K., Mizutani S., Adachi S.
Pediatrics International 59 1046 - 1052 2017年10月
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Pediatrics International
© 2017 Japan Pediatric Society Background: The combination of fludarabine (Flu), high-dose cytarabine (Ara-C) and granulocyte colony-stimulating factor (G-CSF; FLAG), with anthracyclines has become standard chemotherapy for refractory acute myeloid leukemia (AML) in European children and adults. To clarify the efficacy and the safety of FLAG-idarubicin (IDA) for children prospectively, we planned a multicenter phase II study (AML-R11) by the Japanese Pediatric Leukemia/Lymphoma Study Group. Methods: Patients with AML aged between 2 and 20 years old, who had the first bone marrow (BM) relapse or induction failure, were enrolled. The FLAG-IDA regimen consisted of Flu 30 mg/m 2 for 5 days, Ara-C 2 g/m 2 for 5 days, G-CSF (lenograstim) 5 μg/kg for 6 days and IDA 10 mg/m 2 for 3 days. The primary endpoint was remission rate after therapy. Results: Due to drug supply issues, the trial was suspended after the inclusion of seven eligible patients. There were six cases of early relapse within 1 year of the first remission. All seven patients completed the therapy and no early death was observed. Hematological toxicity was common, and one patient developed grade 4 non-hematological toxicity of bacterial meningitis. Although only one patient with late relapse achieved complete remission, minimal residual disease was positive on both flow cytometry and Wilms’ tumor 1 mRNA. Two patients were alive in remission following hematopoietic stem cell transplantation, whereas the other five patients died of either the disease or treatment-related causes. Conclusion: FLAG-IDA might be tolerable for children with refractory AML although the efficacy should be further investigated.
DOI： 10.1111/ped.13378
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自家末梢血幹細胞移植後の血栓性微小血管障害にエクリズマブが著効した神経芽腫症例 査読あり
山田 愛, 盛武 浩, 木下 真理子, 澤 大介, 今村 秀明, 上村 幸代, 此元 隆雄, 布井 博幸
日本小児科学会雑誌 121 ( 10 ) 1712 - 1718 2017年10月
記述言語：日本語 掲載種別：研究論文（学術雑誌）
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Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia 査読あり
Seki M., Kimura S., Isobe T., Yoshida K., Ueno H., Nakajima-Takagi Y., Wang C., Lin L., Kon A., Suzuki H., Shiozawa Y., Kataoka K., Fujii Y., Shiraishi Y., Chiba K., Tanaka H., Shimamura T., Masuda K., Kawamoto H., Ohki K., Kato M., Arakawa Y., Koh K., Hanada R., Moritake H., Akiyama M., Kobayashi R., Deguchi T., Hashii Y., Imamura T., Sato A., Kiyokawa N., Oka A., Hayashi Y., Takagi M., Manabe A., Ohara A., Horibe K., Sanada M., Iwama A., Mano H., Miyano S., Ogawa S., Takita J.
Nature Genetics 49 1274 - 1281 2017年8月
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Nature Genetics
© 2017 Nature America, Inc., part of Springer Nature. All rights reserved. The outcome of treatment-refractory and/or relapsed pediatric T cell acute lymphoblastic leukemia (T-ALL) is extremely poor, and the genetic basis for this is not well understood. Here we report comprehensive profiling of 121 cases of pediatric T-ALL using transcriptome and/or targeted capture sequencing, through which we identified new recurrent gene fusions involving SPI1 (STMN1-SPI1 and TCF7-SPI1). Cases positive for fusions involving SPI1 (encoding PU.1), accounting for 3.9% (7/181) of the examined pediatric T-ALL cases, showed a double-negative (DN; CD4 - CD8 -) or CD8 + single-positive (SP) phenotype and had uniformly poor overall survival. These cases represent a subset of pediatric T-ALL distinguishable from the known T-ALL subsets in terms of expression of genes involved in T cell precommitment, establishment of T cell identity, and post-β-selection maturation and with respect to mutational profile. PU.1 fusion proteins retained transcriptional activity and, when constitutively expressed in mouse stem/progenitor cells, induced cell proliferation and resulted in a maturation block. Our findings highlight a unique role of SPI1 fusions in high-risk pediatric T-ALL.
DOI： 10.1038/ng.3900
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Yamato G., Shiba N., Yoshida K., Shiraishi Y., Hara Y., Ohki K., Okubo J., Okuno H., Chiba K., Tanaka H., Kinoshita A., Moritake H., Kiyokawa N., Tomizawa D., Park M., Sotomatsu M., Taga T., Adachi S., Tawa A., Horibe K., Arakawa H., Miyano S., Ogawa S., Hayashi Y.
Genes Chromosomes and Cancer 56 ( 5 ) 382 - 393 2017年5月
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Genes Chromosomes and Cancer
© 2017 Wiley Periodicals, Inc. ASXL2 is an epigenetic regulator involved in polycomb repressive complex regulation or recruitment. Clinical features of pediatric acute myeloid leukemia (AML) patients with ASXL2 mutations remain unclear. Thus, we investigated frequencies of ASXL1 and ASXL2 mutations, clinical features of patients with these mutations, correlations of these mutations with other genetic alterations including BCOR/BCORL1 and cohesin complex component genes, and prognostic impact of these mutations in 369 pediatric patients with de novo AML (0–17 years). We identified 9 (2.4%) ASXL1 and 17 (4.6%) ASXL2 mutations in 25 patients. These mutations were more common in patients with t(8;21)(q22;q22)/RUNX1-RUNX1T1 (ASXL1, 6/9, 67%, P = 0.02; ASXL2, 10/17, 59%, P = 0.01). Among these 25 patients, 4 (27%) of 15 patients with t(8;21) and 6 (60%) of 10 patients without t(8;21) relapsed. However, most patients with relapse were rescued using stem cell transplantation irrespective of t(8;21). The overall survival (OS) and event-free survival (EFS) rates showed no differences among pediatric AML patients with t(8;21) and ASXL1 or ASXL2 mutations and ASXL wild-type (5-year OS, 75% vs. 100% vs. 91% and 5-year EFS, 67% vs. 80% vs. 67%). In 106 patients with t(8;21) AML, the coexistence of mutations in tyrosine kinase pathways and chromatin modifiers and/or cohesin complex component genes had no effect on prognosis. These results suggest that ASXL1 and ASXL2 mutations play key roles as cooperating mutations that induce leukemogenesis, particularly in pediatric AML patients with t(8;21), and these mutations might be associated with a better prognosis than that reported previously.
DOI： 10.1002/gcc.22443
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Ikeda T., Nakahara A., Nagano R., Utoyama M., Obara M., Moritake H., Uechi T., Mitsui J., Ishiura H., Yoshimura J., Doi K., Kenmochi N., Morishita S., Nishino I., Tsuji S., Nunoi H.
Journal of Human Genetics 62 473 - 480 2017年4月
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Journal of Human Genetics
© 2017 The Japan Society of Human Genetics. Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by survival motor neuron gene mutations. Variant forms of SMA accompanied by additional clinical presentations have been classified as atypical SMA and are thought to be caused by variants in as yet unidentified causative genes. Here, we presented the clinical findings of two siblings with an SMA variant followed by progressive cerebral atrophy, and the results of whole-exome sequencing analyses of the family quartet that was performed to identify potential causative variants. We identified two candidate homozygous missense variants, R942Q in the tubulin-folding cofactor D (TBCD) gene and H250Q in the bromo-adjacent homology domain and coiled-coil containing 1 (BAHCC1) gene, located on chromosome 17q25.3 with an interval of 1.4 Mbp. The in silico analysis of both variants suggested that TBCD rather than BAHCC1 was likely the pathogenic gene (TBCD sensitivity, 0.68; specificity, 0.97; BAHCC1 sensitivity, 1.00; specificity, 0.00). Thus, our results show that TBCD is a likely novel candidate gene for atypical SMA with progressive cerebral atrophy. TBCD is predicted to have important functions on tubulin integrity in motor neurons as well as in the central nervous system.
DOI： 10.1038/jhg.2016.149
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Moritake H., Obara M., Saito Y., Kashimada A., Takagi M., Funakoshi-Tago M., Fukuyama T., Yoshioka M., Inoue A., Komatsu H., Nishitoh H., Kataoka H., Nunoi H.
Human Cell 30 88 - 97 2017年4月
担当区分：筆頭著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Human Cell
© 2016, Japan Human Cell Society and Springer Japan. Major facilitator superfamily domain containing 2a (Mfsd2a) is a member of the major facilitator superfamily. Mfsd2a functions as a transporter for docosahexaenoic acid and also plays a role in the unfolded protein response (UPR) upon tunicamycin (TM) exposure. UPR is involved in the pathogenesis of various human diseases. TM and thapsigargin are representative experimental reagents that induce UPR. To elucidate the detailed function of Mfsd2a in UPR in vivo, we generated Mfsd2a-deficient mice and investigated the role of Mfsd2a during UPR induced by TM or thapsigargin. Phenotypically, Mfsd2a-deficient mice were small and short-lived. No gross anatomical abnormalities in Mfsd2a-deficient mice compared with the wild-type mice were exhibited. Embryonic fibroblasts derived from Mfsd2a-null mice failed to show induction of GRP78 and DDIT3 expressions upon TM exposure but not upon Tg exposure. This phenomenon could not be overcome despite the exposure under high TM concentration. Reconstitution of Mfsd2a in Mfsd2a-null MEF showed hypersensitivity to TM. Furthermore, we examined the physiological role of Mfsd2a against TM using an in vivo mouse model. DDIT3 induction by TM was drastically attenuated in both the liver and brain of Mfsd2a-deficient mice. These results reveal that Mfsd2a plays a critical role in UPR upon TM exposure.
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多発性に肺結節を伴いゾレドロネート併用化学療法を施行した骨肉腫 査読あり
黒木 純, 盛武 浩, 山田 愛, 木下 真理子, 澤 大介, 上村 幸代, 中村 嘉宏, 帖佐 悦男, 中田 博, 盛口 淸香, 浅田 祐士郎, 布井 博幸
日本小児血液・がん学会雑誌 54 ( 1 ) 54 - 57 2017年
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：日本小児血液・がん学会
骨肉腫は小児骨悪性腫瘍で最も多い疾患である．限局例の治療成績は向上したが，転移例に確立された治療法はなく極めて予後不良である．近年，海外においてビスフォスフォネート製剤併用の臨床研究が行われ注目されている．我々は診断時多発性肺結節を認めゾレドロネート併用化学療法を施行した症例を経験した．症例は左大腿骨原発骨肉腫の14歳男児．切断患肢の病理で腫瘍細胞は完全壊死を示し術前化学療法への感受性は極めて良好であった．全治療終了時，肺結節は多くは変化なく残存したが一部消失した．血液毒性以外の重篤な副作用は認めなかった．多発性肺結節が肺内リンパ節であった可能性が高く有効性評価は困難であるが，骨肉腫に対するビスフォスフォネート製剤併用化学療法の安全性は確認できた．今後，本邦での症例蓄積により安全性や有効性の確認が望まれる．
DOI： 10.11412/jspho.54.54