Molecular mechanisms of abnormal cell proliferation in acute lymphoblastic leukemia of Down syndrome

唐氏综合征急性淋巴细胞白血病细胞异常增殖的分子机制

• 批准号: 23591527
• 负责人: TERUI KIMINORI
• 金额: $ 3.41万
• 依托单位: Hirosaki University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23591527/
• 关键词: ダウン症候群; 急性リンパ性白血病; JAK2; CRLF2; 分子標的治療; EBF1; IKZF1; BTG1

We performed this study to clarify molecular mechanisms of abnormal cell proliferation in acute lymphoblastic leukemia of Down syndrome (DS-ALL) in Japan, and found the following results.1. The frequencies of genetic alterations involving the CRLF2-JAK pathway in Japanese DS-ALL patients were slightly lower than those in Western countries. There may be other important pathways involved in pathogenesis of DS-ALL in Japan.2. EBF1 deletions were found at an unexpectedly high frequency, and associated with the P2RY8-CRLF2 fusion. It is suggested that P2RY8-CRLF2 and EBF1 deletions may cooperate in leukemogenesis in a subset of Japanese DS-ALL patients.

本研究旨在阐明日本唐氏综合征急性淋巴细胞白血病(DS-ALL)细胞异常增殖的分子机制。日本DS-ALL患者中涉及CRLF2-JAK通路的基因改变频率略低于西方国家。结论：1.日本DS-ALL的发病可能有其他重要途径参与。EBF1缺失的频率出乎意料地高，并与P2RY8-CRLF2融合有关。提示P2RY8-CRLF2和EBF1缺失在日本DS-ALL患者的白血病发生中可能存在协同作用。

项目成果

CD7-positive acute myelomonocytic leukemia with trisomy 21 as a sole acquired chromosomal abnormality in two adolescents.

两名青少年患有以 21 三体性为唯一获得性染色体异常的 CD7 阳性急性粒单核细胞白血病。

• 发表时间: 2011
• 期刊: Leuk Res. (in press)
• 作者: Kudo K;Terui K;Sasaki S;MD;Kamio T;Sato T;Ito E
• 通讯作者: Ito E

新生児科医のためのTAM診療ガイドラインTAM発症の分子機構

新生儿科医生 TAM 临床实践指南 TAM 发病的分子机制

• 发表时间: 2013
• 期刊: 日本周産期・新生児医学会雑誌
• 作者: Takeuchi K;Mashimo Y;Shimojo N;Arima T;Inoue Y;Morita Y;Sato K;Suzuki S;Nishimuta T;Watanabe H;Hoshioka A;Tomiita M;Yamaide A;Watanabe M;Okamoto Y;Kohno Y;Hata A & Suzuki Y.;Naotoshi Sugimoto;伊藤悦朗,金崎理香,王汝南,照井君典,土岐力
• 通讯作者: 伊藤悦朗,金崎理香,王汝南,照井君典,土岐力

Appropriate dose reduction in induction therapy is essential for the treatment of infants with acute myeloid leukemia: a report from the Japanese Pediatric Leukemia/Lymphoma Study Group.

• DOI: 10.1007/s12185-013-1429-2
• 发表时间: 2013-11
• 期刊: International journal of hematology
• 影响因子: 2.1
• 作者: Tomizawa D;Tawa A;Watanabe T;Saito AM;Kudo K;Taga T;Iwamoto S;Shimada A;Terui K;Moritake H;Kinoshita A;Takahashi H;Nakayama H;Kiyokawa N;Isoyama K;Mizutani S;Hara J;Horibe K;Nakahata T;Adachi S
• 通讯作者: Adachi S

ダウン症に合併した一過性骨髄異常増殖症におけるGATA1変異と急性白血病への進展. Annual Review血液2012.高久史麿ら編

唐氏综合症相关的短暂性骨髓增生中的 GATA1 突变和急性白血病的进展。2012 年血液年度回顾。Fumimaro Takahisa 等人编辑。

• 发表时间: 2012
• 作者: 花田勇;照井君典;土岐力;工藤耕;佐藤知彦;神尾卓哉;佐々木伸也;高橋良博;林泰秀;杉田完爾;小島勢二;小池健一;小阪嘉之;小林正夫;伊藤悦朗;Mase S;川井正信;山本幸代;金子英雄;土岐力,伊藤悦朗
• 通讯作者: 土岐力,伊藤悦朗

Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis

• DOI: 10.1111/j.1399-3038.2012.01282.x
• 发表时间: 2012-08-01
• 期刊: PEDIATRIC ALLERGY AND IMMUNOLOGY
• 影响因子: 4.4
• 作者: Kanegane, Hirokazu;Yang, Xi;Miyawaki, Toshio
• 通讯作者: Miyawaki, Toshio