Prognostic implication of gene mutations in patients with acute myeloid leukemia

急性髓系白血病患者基因突变的预后意义

• 批准号: 20591136
• 负责人: ASOU Norio
• 金额: $ 2.91万
• 依托单位: Kumamoto University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20591136/
• 关键词: 急性骨髄性白血病; 正常染色体; FLT3; NPM1; CEBPA; IDH1; IDH2; TIS11D; 遺伝子変異; 予後予測因子; RNA結合蛋白; 正常核型; 細胞周期; S期チェックポイント; P21; 染色体異常; 転写因子; 家族性白血病; 同種造血幹細胞移植; チロシンキナーゼ; ヌクレオフォスミン

Of 190 patients with acute myeloid leukemia (AML), mutations in the FLT3-ITD, NPM1, and CEBPA genes were detected in 18%, 23% and 12%, respectively. AML patients with FLT3-ITD or without any mutation had a poor clinical outcome. In addition, 8% and 10% showed IDH1 and IDH2 mutations. IDH2 mutation was associated with a poor overall survival. Of patients lacking these mutations, we identified deletion mutations in the RNA binding protein TIS11D. Wild-type TIS11D induced growth inhibition and an S phase checkpoint response, while the deletion mutant showed a diminished effect. We establish the prognostic factors in AML according to these results.

在190例急性髓性白血病（AML）患者中，分别有18%、23%和12%的患者检测到FLT 3-ITD、NPM 1和CEBPA基因突变。有FLT 3-ITD或无任何突变的AML患者的临床结局较差。此外，8%和10%的患者存在IDH 1和IDH 2突变。IDH 2突变与总生存率相关。在缺乏这些突变的患者中，我们确定了RNA结合蛋白TIS 11 D的缺失突变。野生型TIS 11 D诱导生长抑制和S期检查点反应，而缺失突变体显示出减弱的作用。我们根据这些结果建立AML的预后因素。

项目成果

Successful treatment of Aspergillus liver abscesses in a patient with acute monoblastic leukemia using combination antifungal therapy including micafungin as a key drug

使用包括米卡芬净作为关键药物的联合抗真菌疗法成功治疗急性单核细胞白血病患者的曲霉肝脓肿

• DOI: 10.1007/s12185-010-0556-2
• 发表时间: 2010
• 期刊: International Journal of Hematology
• 影响因子: 2.1
• 作者: R. Yamada;K. Horikawa;S. Ishihara;K. Hoshino;T. Kawaguchi;K. Iyama;H. Mitsuya;N. Asou
• 通讯作者: N. Asou

Stem cell exhaustion due to Runx1 deficiency is prevented by Evi5 activation in leukemogenesis

• DOI: 10.1182/blood-2009-07-232249
• 发表时间: 2010-02-25
• 期刊: BLOOD
• 影响因子: 20.3
• 作者: Jacob, Bindya;Osato, Motomi;Ito, Yoshiaki
• 通讯作者: Ito, Yoshiaki

再生不良性貧血と診断され、ATGが奏効した hairy cell leukemia

毛细胞白血病诊断为再生障碍性贫血并对 ATG 有反应

• 发表时间: 2009
• 作者: 藤原志保;麻生範雄;他
• 通讯作者: 他

A randomized comparison of four courses of standard-dose multiagent chemotherapy versus three courses of high-dose cytarabine alone in post-remission therapy for acute myeloid leukemia in adults : the JALSG AML201 study.

成人急性髓性白血病缓解后治疗中四个疗程标准剂量多药化疗与三个疗程单独高剂量阿糖胞苷的随机比较：JALSG AML201 研究。

• 发表时间: 2011
• 期刊: Blood 117
• 作者: Miyawaki S;Ohtake S;Fujisawa S;Kiyoi H;Shinagawa K;Usui N;Sakura T;Miyamura K;Nakaseko C;Miyazaki Y;Fujieda A;Nagai T;Yamane T;Taniwaki M;Takahashi M;Yagasaki F;Kimura Y;Asou N;Sakamaki H;Handa H;Honda S;Ohnishi K;Naoe T;Ohno R.
• 通讯作者: Ohno R.

Acute promyelocytic leukemia harboring a STAT5B‐RARA fusion gene and a G596V missense mutation in the STAT5B SH2 domain of the STAT5B‐RARA

• DOI: 10.1111/j.1600-0609.2009.01324.x
• 发表时间: 2009-11
• 期刊: European Journal of Haematology
• 影响因子: 3.1
• 作者: Eisaku Iwanaga;Miki Nakamura;T. Nanri;T. Kawakita;K. Horikawa;H. Mitsuya;N. Asou