Kagoshima University · Graduate School of Medical and Dental Sciences

Research keywordspediatric acute lymphoblastic leukemia・inotuzumab ozogamicin・neonatal leukemia・Epstein-Barr virus lymphoma・hematopoietic stem cell transplantation・cerebrospinal fluid leak

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• 下村 育史, 中川 俊輔, 棈松 貴成, 櫨木 大祐, 児玉 祐一, 西川 拓朗, 岡本 康裕, 河野 嘉文 . 心原性ショックと高度腎不全で発症し，体外循環と化学療法を併用して救命できた神経芽腫 . 日本小児血液・がん学会雑誌58 ( 2 ) 166 - 1702022 · 記述言語： 日本語 出版者・発行元： 日本小児血液・がん学会 <p>重篤な心不全と腎不全で発症する神経芽腫は稀である．症例は2歳の女児．上気道炎罹患後に心原性ショックと腎不全を来し，経皮的心肺補助と持続血液濾過透析を開始した．経皮的心肺補助離脱後に高血圧を認め，造影CTで左副腎腫瘍を認めた．尿中vanillylmandelic acid，homovanillic acid，血中neuron specific enolase，カテコラミンが高値で，I¹²³-MIBGシンチで腫瘍に一致する集積を認めた．骨髄に異常細胞を認め，神経芽腫と診断した．また，造影CTで左右の重複腎動脈を認め，両側の尾側の腎動脈起始部に狭窄を認めた．レニン，アルドステロンが高値で，腎血管性高血圧と診断した．神経芽腫と腎血管性高血圧の合併が，重篤な高血圧性急性心不全と過度な腎血管収縮による腎不全を引き起こしたと考えた．心毒性を考慮し治療強度を軽減した化学療法を開始すると，高血圧と腎不全が改善し，持続血液濾過透析を離脱できた．重篤な高血圧性心不全や腎不全で発症し，体外循環に依存した状態でも，速やかに神経芽腫に対する化学療法を開始することは，症状の改善に有用な可能性がある．</p> DOI： 10.11412/jspho.58.166 CiNii Research
• Beppu S., Nishikawa T., Tomomasa D., Hijikata A., Kasabata H., Terazono H., Ikawa K., Nakamura T., Horikawa S., Nagahama J., Nakamura A., Abematsu T., Nakagawa S., Oketani K., Kanegane H., Okamoto Y.2017 · 記述言語： 日本語 出版者・発行元： Frontiers in Immunology Background: Newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved the prognosis of SCID. In Japan, NBS testing (measurement of the T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC)) was launched in 2017 and has expanded nationwide in recent years. In this study, we report a Japanese patient with X-linked SCID with a novel IL2RG variant identified through NBS. The patient underwent cord blood transplantation (CBT). Case: The patient had no siblings or family history of inborn errors of immunity. He was born at 38 weeks of gestation and weighed 3,072 g. His NBS results revealed TREC 0 copies/10⁵ cells (normal value: >565 copies/10⁵ cells), which was considered suggestive of SCID. The patient was referred to our hospital. Although his lymphocyte count was 1,402/μL, naïve T cells and CD56⁺ natural killer (NK) cells were decreased to 0% and 0.05% of the total lymphocytes, respectively. Flow cytometric measurement testing revealed a decrease in γc protein expression in the B lymphocytes and NK lymphocytes. We identified a hemizygous novel missense variant (c.256A>C, p.Thr86Pro) of IL2RG. Both in silico and structural analyses revealed that this variant is likely pathogenic. At 3 months of age, he underwent CBT from a human leukocyte antigen-full-matched unrelated donor. The conditioning regimen included fludarabine (180 mg/m²) and targeted busulfan (35 mg×h/L). The patient achieved high-level donor chimerism and immune reconstitution, including B-cell function, at 13 months. Conclusion: Using NBS, the patient was diagnosed as having X-linked SCID with a novel missense variant of IL2RG. Early diagnosis using NBS tests enables safe hematopoietic stem cell transplantation without complications such as infection. We also found that even SCID with novel variants can be accurately diagnosed using the NBS program. In Japan, the test uptake rate is approximately 80% due to the high number of self-funded screening tests, and it is hoped that the uptake rate will increase in the future. DOI： 10.3389/fimmu.2024.1478411 Scopus PubMed
• 森山 瑞葵, 西川 拓朗, 中村 達郎, 棈松 貴成, 中川 俊輔, 児玉 祐一, 岡本 康裕, 岩元 二郎, 河野 嘉文 . Eltrombopag投与により血小板数と出血症状の改善を認めたX連鎖性血小板減少症 . 臨床血液62 ( 4 ) 257 - 261記述言語： 日本語 出版者・発行元： 一般社団法人 日本血液学会 <p>症例は，乳児期より慢性的に血小板減少を認める13歳男子。慢性血小板減少症の家族歴を有すること，小型血小板，免疫グロブリン治療に不応などより，X連鎖性血小板減少症（X-linked thrombocytopenia, XLT）を疑い，Wiskott-Aldrich syndrome蛋白（WASP）発現解析を行ったところ，発現低下を認めた。<i>WASP</i>遺伝子解析では，WASP-interacting protein領域のエクソン3部位のミスセンス変異[c.296A>G (p.Gln99Arg)]を認め，XLTと診断した。運動制限解除のためeltrombopagの内服を12.5 mg/日で12歳時から開始した。25 mg/日まで増量したところ血小板数は5万/µ<i>l</i>前後まで上昇し，運動制限解除後も出血症状は出現しにくくなった。Eltrombopag治療後の透過型電子顕微鏡検査では血小板微細構造，凝集能検査の異常を認めていた。XLT症例に対するeltrombopag治療は，血小板数増加，出血症状の改善を期待できる。</p> DOI： 10.11406/rinketsu.62.257 PubMed CiNii Research
• Abematsu T, Nishikawa T, Kasabata H, Nakagawa S, Okamoto Y . Blinatumomab Maintenance Therapy Following Bone Marrow Transplantation for Early Relapsed Pediatric B-cell Precursor Acute L記述言語： 英語 DOI： 10.7759/cureus.62263 PubMed

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