Whole genome and epigenome analysis of Juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome

幼年型粒单核细胞白血病和小儿骨髓增生异常综合征的全基因组和表观基因组分析

• 批准号: 22591171
• 负责人: SOTOMATSU Manabu
• 金额: $ 2.75万
• 依托单位: Gunma Institute of Public Health and Environmental Sciences
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22591171/
• 关键词: 小児血液学; 遺伝子; ゲノム; マイクロアレイ; 癌; 臨床

SNP arry analysis of exon 7-9 of CBL gene revealed the mutation in 3 of 40 JMML, one of 81 AML, but not in 28 cases with ALL. ASXL1 mutation was found in one of 40 JMML. No IDH1, 2, DMMT3A genes were found in these cases. SETBP1 mutation was found in 3 of 40 JMML, but not in AML or ALL. No mutations of GATA2 gene were found in these cases. SETBP1 was suggested to be associated with the development of JMML.

CBL基因外显子7-9 SNP分析显示40例JMML中3例突变，81例AML中1例突变，28例ALL中未发现突变。40例JMML中有1例存在ASXL 1突变。IDH 1、2、DMMT 3A基因均未检出。4 0例JMML中3例发现SETBP 1突变，AML和ALL中未发现突变。未发现GATA 2基因突变。SETBP 1可能与JMML的发生有关。

项目成果

Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome

唐氏综合症短暂异常骨髓生成​​中自然发生的致癌 GATA1 突变体，具有内部缺失

• DOI: 10.1182/blood-2012-01-405746
• 发表时间: 2013
• 期刊: Blood
• 影响因子: 20.3
• 作者: Toki T;Kanezaki R;Kobayashi E;Kaneko H;Suzuki M;Wang R;Terui K;Kanegane H;Maeda M;Endo M;Mizuochi T;Adachi S;Hayashi Y;Yamamoto M;Shimizu R;Ito E.
• 通讯作者: Ito E.

Mutations of LEF1 gene in pediatric T cell acute lymphoblastic leukemia

小儿T细胞急性淋巴细胞白血病LEF1基因突变

• 发表时间: 2010
• 作者: Park MJ;Kato M;Kiyokawa N;Takita J;Ogawa S;Hayashi Y.
• 通讯作者: Hayashi Y.

Heterogeneity in infants with acute myeloid leukemia : retrospective analysis of a Japanese nationwide survey

急性髓系白血病婴儿的异质性：日本全国调查的回顾性分析

• 发表时间: 2011
• 作者: Shimada A;Tomizawa D;Kinoshita A;Hamamoto K;Tsukimoto I;Ogawa A;Taga T;Imamura T;Tawa A;Horibe K;Taki T;Hayashi Y;Adachi S.
• 通讯作者: Adachi S.

FLT3-internal tandem duplication, CD56 expression, and obstructive jaundice due to granulocytic sarcoma at relapse in a pediatric patient with t(8 ; 21) acute myeloid leukemia

FLT3-内部串联重复、CD56 表达和 t(8; 21) 急性髓系白血病儿科患者复发时粒细胞肉瘤引起的梗阻性黄疸

• 发表时间: 2010
• 期刊: Cancer Genet Cytogenet
• 作者: Kawamura M;Kaku H;Ito T;Funata N;Taki T;Shimada A;Hayashi Y.
• 通讯作者: Hayashi Y.

小児急性骨髄性白血病におけるGATA2遺伝子変異同定

小儿急性髓系白血病GATA2基因突变的鉴定

• 发表时间: 2012
• 作者: Fujii;A.;J. Funada;N. Morioka;H. Hashida;T. Iwata and T. Higaki;柴徳生,大木健太郎,朴 明子,外松 学,林泰秀
• 通讯作者: 柴徳生,大木健太郎,朴 明子,外松 学,林泰秀