論文 - 盛武 浩
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Lymphatic dysplasia evaluated by indocyanine green lymphography in congenital myotonic dystrophy 査読あり
Tate M., Aoki Y., Ochiai K., Kodama Y., Nakame K., Kodama Y., Moritake H.
Pediatrics International 67 ( 1 ) e70170 2025年1月
担当区分：最終著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Pediatrics International
DOI： 10.1111/ped.70170
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Mori K., Maeda K., Kimoto Y., Ikeda T., Honda R., Yoshiura K.I., Moritake H.
Pediatrics International 67 ( 1 ) e70171 2025年1月
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Yokoyama R., Kodama Y., Takamura K., Takahashi M., Tanaka M., Watanabe N., Moritake H.
Journal of Cardiology Cases 31 ( 6 ) 155 - 157 2025年
担当区分：責任著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Journal of Cardiology Cases
Exercise stress echocardiography (ESE) is a feasible and valuable tool for evaluating subclinical pulmonary hypertension (PH). However, its utility in patients with unilateral pulmonary branch stenosis remains unclear. We present a case involving a 17-year-old patient with left pulmonary branch stenosis who exhibited exercise-induced PH in the contralateral pulmonary artery as detected by ESE. Standard echocardiography was unable to visualize the left pulmonary artery clearly; therefore, computed tomography was performed, revealing a left pulmonary branch stenosis with a minimum diameter of 4.2 mm. Resting echocardiography showed a pressure gradient of 17 mmHg, calculated using the tricuspid regurgitant velocity. During ESE with a prone ergometer, the slope of the mean pulmonary arterial pressure to systemic cardiac output was 3.1 mmHg/L/min, meeting the diagnostic criteria for exercise-induced PH. The patient underwent stent implantation to treat the left pulmonary branch stenosis. Follow-up ESE demonstrated improvement, with the slope of the mean pulmonary arterial pressure to systemic cardiac output decreasing to 1.5 mmHg/L/min. These findings underscore that ESE is both feasible and effective for assessing subclinical unilateral pulmonary branch stenosis. Learning objective: Patients with congenital unilateral peripheral branch pulmonary artery stenosis usually do not have pulmonary hypertension at rest, and identifying patients who require treatment is challenging. Exercise stress echocardiography can detect latent pulmonary hypertension of the contralateral pulmonary artery in some patients, providing valuable insights for determining treatment indications and evaluating the efficacy of catheter interventions for the stenotic lesion.
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限外濾過が有効であった最重症型sinusoidal obstruction syndrome 査読あり
若松 美仁, 黒木 純, 海老原 秀生, 阪口 嘉美, 永澤 俊, 中川 緑, 山田 愛, 田中 悦子, 木下 真理子, 此元 隆雄, 盛武 浩
日本小児腎臓病学会雑誌 38 ( 0 ) n/a 2025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：一般社団法人 日本小児腎臓病学会
造血幹細胞移植後の類洞閉塞症候群（sinusoidal obstruction syndrome: SOS）は，利尿薬抵抗性の体重増加や浮腫を呈する．重症例では多臓器不全を合併し，時に致死的である．我々は，デフィブロタイド投与にもかかわらず重症化した造血幹細胞移植後SOSに対して持続的腎代替療法（continuous renal replacement therapy: CRRT）として限外濾過を行った．限外濾過による体液過剰の是正によって，腹水の減少と尿量増加が速やかに得られ，救命することができた．SOSの治療では，過剰な体液の是正が重要であり，体液量の正確な評価と腎機能にかかわらず病勢を考慮した適切なタイミングでのCRRT導入が肝要である．また，CRRTを行う際には，限外濾過を選択肢の一つとして考慮すべきである．
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Re-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation 査読あり
Konomoto T., Wakamatsu F., Sakaguchi H., Kurogi J., Tanaka E., Moritake H.
Pediatric Nephrology 41 ( 4 ) 993 - 997 2025年
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Pediatric Nephrology
MYH9-related disease (MYH9-RD) is an autosomal dominant disorder typically characterized by macrothrombocytopenia, leukocyte inclusion bodies, and variable non-hematologic manifestations such as hearing loss and nephropathy. We herein describe a 16-year-old boy presenting with persistent proteinuria and biopsy-proven membranous nephropathy with focal segmental sclerosis. Genetic testing identified a rare MYH9 variant (p.I1816V), previously reported in association with Epstein syndrome. However, the patient had normal platelet counts, no leukocyte inclusions, and no abnormalities in non-muscle myosin heavy chain IIA (NMMHC-IIA) expression in neutrophils or podocytes. Although globally rare, the p.I1816V variant is more frequent in East Asian populations and is predicted to be benign by multiple in silico tools. This case illustrates the challenges of interpreting rare variants in the absence of supportive clinical findings and highlights the need for cautious evaluation in the era of next-generation sequencing.
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Goto H., Suenobu S., Koga Y., Yamamoto S., Nakashima K., Oba U., Hasegawa D., Usami I., Yamamori A., Moritake H., Nobusawa S., Okuno K., Kawaguchi K., Kanno M., Ishida H., Cho Y., Nishida H., Tomizawa D., Ihara K., Ohga S.
Frontiers in Hematology 4 2025年
掲載種別：研究論文（学術雑誌） 出版者・発行元：Frontiers in Hematology
Background: Epigenetic dysregulation plays a central role in pediatric acute myeloid leukemia (AML), yet its clinical relevance remains underexplored. This study primarily aimed to elucidate the clinical effect of H3K27me3 and H3K4me3 status on pediatric acute myeloid leukemia. We evaluated the prognostic impact of H3K27me3 and H3K4me3 histone trimethylation, along with associated gene expression profiles, in pediatric AML. Methods: We retrospectively analyzed 74 children with newly diagnosed non-FAB M3 and non-Down syndrome AML in a prolonged cohort in Japan. Bone marrow immunohistochemistry assessed H3K27me3 and H3K4me3 expression levels. RNA sequencing was successfully performed on sorted leukemic blasts in six representative cases, owing to limited sample availability. Chemoresistance and epigenetic modulation were evaluated in AML cell lines treated with GSK-J4, a histone demethylase inhibitor. Results: High H3K27me3 expression at diagnosis was significantly associated with superior overall and event-free survival over three years (OS HR 8.0; EFS HR 5.0; both p < 0.01). H3K4me3 levels at diagnosis showed no prognostic impact. Among 14 KMT2A-rearranged cases, all six patients with high H3K27me3 achieved a long-term first remission (median follow-up: 10 years), whereas those with low expression had higher relapse rates. Transcriptomic analysis revealed upregulation of HOXA9, and HOXA-cluster genes and downregulation of ABCB1, in low H3K27me3 samples. In vitro, GSK-J4 increased H3K27me3 and suppressed HOXA9 expression in KG-1 cells, enhancing sensitivity to cytarabine. Conclusion: Low H3K27me3 expression defines a poor-risk group in pediatric AML, potentially via HOXA9-driven dysregulation. H3K27me3 may serve as a prognostic biomarker and potential therapeutic target.
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Takahashi H., Tanaka S., Yuza Y., Iijima-Yamashita Y., Hasegawa D., Moritake H., Terui K., Iwamoto S., Shimada A., Matsubayashi J., Deguchi T., Hashii Y., Kiyokawa N., Miyachi H., Saito A.M., Taga T., Adachi S., Tomizawa D.
International Journal of Hematology 123 ( 1 ) 113 - 121 2025年
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：International Journal of Hematology
Arsenic trioxide (ATO) in combination with all-trans retinoic acid (ATRA) has been shown to be effective in both adult and pediatric patients with acute promyelocytic leukemia (APL). Addition of ATO to conventional chemotherapy could lead to a reduction in the doses of cytotoxic agents, but the long-term safety of ATO is not fully understood, especially in children. The Japan Children’s Cancer Group conducted a risk-stratified prospective study to investigate safety and efficacy of ATO in children with newly diagnosed APL by replacing all three intensification phases with ATO. The 3-year event-free survival and overall survival rates in 27 children were 96.3% (95% CI 76.5%–99.5%) and 100% (95% CI 87.2%–100%), respectively. Prolonged QTc interval or other cardiac conduction disorders of any grade were observed in 20 out of the 63 intensification cycles. The durations of leukocytopenia, neutropenia, and G-CSF treatment were significantly shorter in this study than in a previous Japanese study that used conventional cytotoxic chemotherapy. Furthermore, no cardiac, metabolic, renal, cutaneous, or neurological symptoms were reported for up to 5 years after completion of the protocol therapy. The JPLSG AML-P13 study demonstrated excellent outcomes and safety of ATO in children with APL.
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CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation 査読あり
Nagasawa S., Nishimura T., Yamada A., Kamimura S., Ishimura M., Moritake H.
Human Genome Variation 11 ( 1 ) 41 2024年12月
担当区分：責任著者 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 Genome Variation
We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heterozygous CFAP43 nonsense variant. Environmental factors related to hematopoietic cell transplantation may have led to PCD symptoms in this patient with this variant. Genetic screening can help avoid subsequent complications during patient management.
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Mitochondrial dynamics as a potential therapeutic target in acute myeloid leukemia 査読あり
Kinoshita M., Saito Y., Otani K., Uehara Y., Nagasawa S., Nakagawa M., Yamada A., Kamimura S., Moritake H.
International Journal of Hematology 120 ( 5 ) 601 - 612 2024年11月
担当区分：責任著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：International Journal of Hematology
Acute myeloid leukemia (AML) cells are highly dependent on oxidative phosphorylation and the mitochondrial dynamics regulated by fusion-related genes MFN1, MFN2, and OPA1 and fission-related genes DNM1L and MFF. An analysis of previously published gene expression datasets showed that high expression of MFF was significantly associated with poor prognosis in patients with AML. Based on this finding, we investigated the impact of mitochondrial dynamics in AML. Transduction of shRNA against fission-related genes, DNM1L and MFF, inhibited growth and increased the mitochondrial area in AML cell lines. Extracellular flux analysis showed that deletion of mitochondrial dynamic regulators reduced mitochondrial respiration without significantly affecting glycolysis, except in shDNM1L-transfected cells. Immunodeficient NOG mice transplanted with DNM1L- or MFF-knockdown AML cells survived significantly longer than controls. Treatment of AML cell lines with Mdivi-1, which inhibits the DRP1 encoded by DNM1L, inhibited cell proliferation and oxidative phosphorylation. Our results show that mitochondrial dynamics play an important role in AML, and provide novel biological insights. The inhibition of mitochondrial dynamics induces unique mitochondrial alterations, which may be explored as a potential therapeutic target in AML.
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HDAC Inhibitors Induce HLA Class I Molecules through the SOX10–IRF1 Axis in Clear Cell Sarcoma Cells 査読あり
Nguyen M.T., Kikuchi R., Nishibu S., Zhou Y., Moritake H., Nakamura T., Outani H., Hayashi R., Sakurai H., Yokoyama S.
Biological and Pharmaceutical Bulletin 47 ( 11 ) 1913 - 1919 2024年11月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Biological and Pharmaceutical Bulletin
Although immune checkpoint inhibitors (ICIs) are an effective treatment for clear cell sarcoma (CCS), a rare melanocytic sarcoma with a poor prognosis, their efficacies are still limited. Therefore, a novel therapeutic strategy is required to improve the efficacy of ICIs. We previously reported that histone deacetylase (HDAC) inhibitors increased melanoma immunogenicity through the SOX10–IRF1 pathway and may improve the efficacy of ICIs for melanoma. We herein demonstrated that the inhibition of HDAC induced the expression of HLA class I molecules through IRF1 in CCS cells, similar to melanoma. The suppression of SOX10 by small interfering RNA (siRNA) induced the expression of HLA class I molecules. In addition, the isoform-specific inhibition of HDAC1/3 induced the expression of another IRF1 downstream molecule, PD-L1 in CCS cells in concert with the suppression of SOX10. Furthermore, the knockdown of IRF1 impaired the induction of PD-L1 expression in CCS cells. Therefore, the inhibition of HDAC1/3 has potential as a novel strategy to increase immunogenicity and as combination therapy with ICIs for CCS and melanoma.
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Isolated Blind-Ended Major Aortic Pulmonary Collateral Artery With an Aneurysm in an Infant With Trisomy 21. 査読あり
Yonaga R, Kodama Y, Takamura K, Harada M, Moritake H
Cureus 16 ( 10 ) e72078 2024年10月
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Kato S, Nakashima K, Yamato G, Saito S, Taneyama Y, Yamamoto N, Miyamura T, Kato K, Sato Y, Yamada A, Kamiya T, Nishikawa T, Uemura S, Tomizawa D, Moritake H, Terui K, Taga T, Hasegawa D
Pediatric blood & cancer 71 ( 10 ) e31244 2024年8月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Pediatric Blood and Cancer
Hypomethylating agent treatment for myeloid leukemia associated with Down syndrome (ML-DS) has been scarcely reported. Herein, we collected information on azacitidine treatment for ML-DS in Japan. Forty-eight cycles of azacitidine treatment were performed for 12 patients, including 11 relapsed or refractory (R/R) patients. In 40 cycles, azacitidine was used as monotherapy. No azacitidine-related death was observed. One cycle concurrently administered with methotrexate-based intrathecal therapy was discontinued due to toxicities. Only 4 of the 19 cycles given in non-remission achieved complete or partial remission. In conclusion, although most toxicities were acceptable, azacitidine monotherapy might be insufficient for R/R ML-DS cases.
DOI： 10.1002/pbc.31244
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KRAS G12 mutations as adverse prognostic factors in KMT2A-rearranged acute myeloid leukemia 査読あり
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年7月
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小児血液・悪性固形腫瘍患者に対する鎖骨上アプローチを用いた腕頭静脈穿刺による中心静脈カテーテル挿入術の検討 査読あり
中目 和彦, 桝屋 隆太, 永澤 俊, 中川 緑, 山田 愛, 木下 真理子, 上村 幸代, 盛武 浩, 家入 里志, 七島 篤志
日本小児外科学会雑誌 60 ( 2 ) 158 - 165 2024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：特定非営利活動法人 日本小児外科学会
【目的】中心静脈カテーテル（CVC）は小児血液・悪性固形腫瘍患者の治療において使用される．近年，安全なCVC挿入法としてin-plane法を用いた超音波（US）ガイド下鎖骨上アプローチによる腕頭静脈穿刺CVC挿入術が報告されている．【方法】小児血液・悪性固形腫瘍患者を対象にout-of-plane法を用いて内頸静脈にトンネル型CVCを挿入した群（IJV群）とin-plane法を用いて腕頭静脈に挿入した群（BCV群）について患者背景，手術成績，合併症を後方視的に比較検討した．【結果】34名の患者に対し，計40回（IJV群：n＝15，BCV群：n＝25）のトンネル型CVCが挿入された．患者背景，術前血液凝固検査値は両群間に有意差はなかった．手術時間中央値（IQR）はIJV群：30分（27～33），BCV群：25.8分（22～27）であり，BCV群で有意に手術時間が短縮された（p＝0.0026）．術中合併症はIJV群で1例（6.7％）認め，BCV群では認めなかった．CVC維持管理中の合併症はIJV群：10例（66.7％），BCV群：17例（68％）であり，両群間で有意差は認めなかった．カテーテル関連血流感染はIJV群：10例（66.7％），BCV群：12例（52％）に認め，有意差はみられなかった．CVC留置期間中央値（IQR）はIJV群：273日（172～363.5），BCV群：152日（101～280）であり有意差を認めなかった．【結論】リアルタイム超音波ガイド下鎖骨上アプローチによる腕頭静脈穿刺術は小児血液・悪性固形患者に対しても安全な手技と考えられた．
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Matsumoto F, Yokogami K, Yamada A, Moritake H, Watanabe T, Yamashita S, Sato Y, Takeshima H
Human cell 37 ( 2 ) 523 - 530 2024年2月
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
Atypical teratoid/rhabdoid (AT/RT) is a rare and highly malignant tumor of the central nervous system (CNS). It is most commonly found in children less than 5 years of age and is associated with inactivation of loss of function of SMARCB1/INI1. An experimental model for AT/RT is necessary to develop new and effective therapies. We established a patient-derived new cell line (MZ611ATRT), which showed loss of BAF-47. MZ611ATRT genetically features somatic heterozygous deletion of SMARCB1 and single nucleotide deletion of the residual allele, exon 5 ([c.541delC]), resulting in a stop codon at codon 954 by frameshift. We assessed the RNA-sequencing data of the other two AT/RT cell lines with forced expression of SMARCB1 available from public databases. We found SMARCB1 overexpression significantly down-regulates the expression of a group of enzymes related to cholesterol biosynthesis. Simvastatin was highly sensitive against MZ611ATRT cells and induced apoptosis (IC50 was 3.098 µM for MZ611ATRT, 41.88uM for U-87 MG, 23.34uM for IOMM-Lee, and 18.12uM for U-251 MG.). Pathways involved in cholesterol biosynthesis may be new targets for adjuvant therapy of AT/RT.
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松本 昂之, 西村 豊樹, 山元 綾子, 澤田 浩武, 盛武 浩
日本免疫不全・自己炎症学会雑誌 3 ( 1 ) 16 - 20 2024年2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：一般社団法人 日本免疫不全・自己炎症学会
新生児スクリーニング（newborn screening：NBS）はおよそ20疾患を対象に公費負担として行われているが，各自治体によって独自に対象疾患を拡大しているのが実状である．宮崎県では，2020年4月から先天性免疫異常症（inborn errors of immunity：IEI）とライソゾーム病を任意で追加している．今回，われわれは宮崎県で実施したNBSによりB細胞欠損症（B-cell deficiency：BCD）を同定した．症例はkappa-deleting recombination excision circles（KRECs）が低値を示し精査対象となった．当科で行った複数回のCD 19陽性B細胞の測定で，一貫してB細胞割合が2％未満でありBCDの診断に至った．診断後は免疫グロブリン補充療法を行いながら，1歳5か月となる現在まで重篤な感染症を合併することなく経過している．自験例のようにNBSを契機としたBCD診断，さらに免疫グロブリン補充による予防介入の報告は本邦初と考えられる．IEIのうちで重症複合免疫不全症とBCDは，重篤な後遺症をきたす例，さらに診断されることなく死亡する例も存在し，早期の診断と治療介入が特に重要である．IEIをNBSの対象疾患として導入することの費用対効果は，世界中で証明されている．今後，日本でもIEIがNBS公費負担の対象になることが期待される．
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Arima M., Inoue H., Misumi A., Tsukamoto S., Matsushita I., Araki S., Ohta M., Takahashi K., Imazato M., Goto T., Aoki Y., Tagawa K., Hirose M., Fujita Y., Yoshida N., Nakao S., Kondo H., Kusuhara K., Kimura K., Hasegawa S., Ikeda Y., Kodama Y., Moritake H., Ochiai M., Ohga S., Kishimoto J., Todaka K., Ieiri I., Sonoda K.H.
Japanese Journal of Ophthalmology 68 ( 5 ) 490 - 499 2024年
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Japanese Journal of Ophthalmology
Purpose: To assess the safety and efficacy of ripasudil for retinopathy of prematurity (ROP). Study design: Phase 1/2, multicenter, open-label, single-arm, 12-week clinical trial. Methods: Infants born with gestational age (GA) of ≤ 32 weeks or weight of ≤ 1500 g with zone I or II, ≥ stage 1, ROP in both eyes were enrolled. Ripasudil eye drops were administered to patients in both eyes. Phase 1 was a dose-escalation study (once daily for 1 week, then twice daily for 2 weeks); an additional dosing up to 9 weeks was allowed if no safety issues occurred. In phase 2, ripasudil was administered twice daily for up to 12 weeks. Adverse events were assessed. The proportion of patients with type 1 ROP progression, number of days for type 1 ROP progression, and progression to the most advanced ROP stage were estimated. Results: Twenty-four infants were enrolled (phase 1, n = 3; phase 2, n = 21). Nineteen and four patients experienced systemic and ocular adverse events, respectively. Efficacy endpoints were not different between the ripasudil and historical control groups. However, in the GA ≤ 27 weeks subgroup, fewer patients progressed to type 1 ROP in the ripasudil than in the historical control group (P = 0.09). In the GA ≤ 27 weeks subgroups, the 25th percentile for the number of days for type 1 ROP progression was 22 days in the historical control group and 44 days in the ripasudil group. Conclusion: Ripasudil was safe and inhibited/delayed type 1 ROP progression, especially in infants with short GA.
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Ebihara Shusei, Kodama Yoshihiko, Takamura Kazunari, Harada Masako, Moritake Hiroshi
Journal of Pediatric Cardiology and Cardiac Surgery advpub ( 0 ) 82 - 86 2024年
担当区分：責任著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：特定非営利活動法人 日本小児循環器学会
Symptoms of coronavirus infectious disease 2019 (COVID-19) are usually mild in young patients. Some children, however, present with a significant degree of complications which may be associated with an excessive reaction by the immune system. Herein, we report an analysis of cytokine and chemokine in an 11-year-old girl diagnosed with left ventricular dysfunction and cardiac tamponade complicated with COVID-19. She recovered without complications after intravenous immunoglobulin, dexamethasone, remdesivir, and surgical pericardial drainage. Cytokine concentrations had markedly increased in the pericardial fluid specimen; especially for interleukin-6 being disproportionate to its serum concentration. Cytokine storm originating from the pericardial cavity was considered an underlying mechanism of her condition.
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Ishimura M., Eguchi K., Sonoda M., Tanaka T., Shiraishi A., Sakai Y., Yasumi T., Miyamoto T., Voskoboinik I., Hashimoto K., Matsumoto S., Ozono S., Moritake H., Takada H., Ohga S.
International Journal of Hematology 119 ( 5 ) 592 - 602 2024年
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：International Journal of Hematology
Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous system (CNS) disease. We studied treatment outcomes of 13 patients (FHLH2 n = 11, FHLH3 n = 2) consecutively diagnosed from 2011 to 2022 by flow cytometric screening for non-myeloablative HCT in a regional treatment network in Kyushu, Japan. One patient with a novel PRF1 variant escaped screening, but all patients with FHLH2 reached diagnosis and 8 of them received HCT until 3 and 9 months of age, respectively. The earliest HCT was conducted 65 days after birth. Three pretransplant deaths occurred in newborns with liver failure at diagnosis. Ten posttransplant patients have remained disease-free, 7 of whom had no neurological involvement. Time from first etoposide infusion to HCT was shorter in patients without CNS disease or bleeding than in patients with those factors (median [range] days: 62 [50–81] vs. 122 [89–209], p = 0.016). Six of 9 unrelated patients had a PRF1 c.1090_1091delCT variant. These results suggest that the critical times to start etoposide and HCT are within 3 months after birth and during etoposide control, respectively. Newborn screening may increase the percentage of disease-free survivors without complications.
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[Pediatric acute myeloid leukemia]. 査読あり
Moritake H
[Rinsho ketsueki] The Japanese journal of clinical hematology 65 ( 9 ) 928 - 936 2024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
急性骨髄性白血病（AML）は小児白血病の25％を占め，年間150例程度が発症する。ダウン症関連骨髄性白血病（ML-DS），急性前骨髄球性白血病（APL），その他を<i>de novo</i> AMLとして3群に分けて治療を行う。ML-DSは低用量化学療法にもかかわらず，80％以上の無病生存という良好な治療成績が担保される一方，再発すると造血細胞移植を施行しても救命が難しい点が課題である。APLは全トランスレチノイン酸と三酸化ヒ素併用により完治が望める疾患となった。<i>De novo</i> AMLは10％が寛解導入不能，また一旦寛解が得られても約30％が再発する。今回の総説では小児AMLを3群に分けて，日本の治療歴史を振り返りながら解説する。最後に<i>de novo</i> AMLの再発・難治例に期待できる新規薬剤を紹介したい。