St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP): Whole Genome Sequencing of Core Binding Factor Acute Myeloid Leukemia. St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP): Whole Genome Sequencing

Pediatric de novo acute myeloid leukemia (AML) is a heterogeneous disease that can be divided into clinically distinct subtypes based on the presence of specific chromosomal abnormalities or gene alterations. One of the best characterized subtypes of AML involves leukemias with alterations of the core-binding factor (CBF)-complex, which comprises the FAB subtypes M2 and M4Eo and associates with a favorable outcome. Patients with the AML M2 subtype harbor a translocation between chromosomes 8 and 21 [t(8;21)] that yields the chimeric fusion gene RUNX1(AML1)-RUNX1T1(ETO), while patients with AML M4Eo express the chimeric fusion gene CBFBeta-SMMHC(MYH11) as a result of an inversion/translocation event of chromosome 16 [inv(16)/t(16;16)]. In an effort to define the total complement of genetic changes in CBF-leukemia, we performed paired-end whole genome sequencing (WGS) on diagnostic leukemia blasts and matched germ line samples from 17 pediatric CBF-leukemia... (for more see dbGaP study page.)

新发儿童急性髓系白血病（acute myeloid leukemia, AML）是一类异质性疾病，可依据特异性染色体异常或基因改变分为多个临床特征迥异的亚型。其中研究最为透彻的AML亚型之一为核心结合因子（core-binding factor, CBF）复合体异常相关白血病，该亚型涵盖FAB分型的M2与M4Eo亚型，且预后良好。AML M2亚型患者携带8号与21号染色体间的易位[t(8;21)]，由此产生嵌合融合基因RUNX1(AML1)-RUNX1T1(ETO)；而AML M4Eo亚型患者则因16号染色体倒位/易位[inv(16)/t(16;16)]，表达嵌合融合基因CBFβ-SMMHC(MYH11)。为明确CBF白血病的全套遗传改变谱，我们对17例儿童CBF白血病患者的确诊白血病原始细胞及匹配的生殖系样本开展了双端全基因组测序（paired-end whole genome sequencing, WGS）……更多详情请参见dbGaP研究页面。