Clinical Database

核心A负责识别和招募转诊至Siteman的每位成人患者 癌症中心新诊断和复发的急性髓细胞白血病（AML）和骨髓增生异常 综合征（MDS）。将来自这些患者的临床和病理材料输入数据库， 是执行本计划项目所必需的。此外，临床、病理和治疗 这些信息对于确定新发现的基因突变的临床相关性至关重要。的 临床数据库核心（核心A）成立于2002年，作为一个平台，调查 与MDS和急性髓细胞白血病的发病机制相关的基因突变，并具有两个 具体目标如下： 具体目标1：我们将前瞻性地识别并招募所有新诊断的 或复发性AML和MDS，转诊至华盛顿大学Siteman癌症中心。 自成立以来，Core A一直负责储存167例MDS和387例AML的组织 根据IRB批准的组织采集方案，患者（-98%应计）。在这554名患者中， 从515例（93%）中采集骨髓，从517例（93%）中采集血液，从455例（82%）中采集血清，从495例（82%）中采集皮肤， (89%），口腔粘膜细胞376（68%），截至4/1/07。另外的肿瘤标本收集自 28例AML患者在复发/进展时;额外的肿瘤标本收集自 13例MDS患者进展为AML。自2007年1月以来，已有43名患者 重新同意，以便他们的样品可以用于项目1的全基因组重测序研究。 具体目标2：我们将建立一个全面的临床白血病数据库， 流行病学数据、疾病相关特征、预后因素、治疗信息， 所有新诊断和复发的AML和MDS患者的结局 癌症中心沿着从这些患者采集并储存在 标本采集和表达分析核心（核心B），这个综合数据库将提供 项目2和生物统计学核心（核心C），具有测试和验证预后的关键要素 任何特定突变的重要性。已汇编全面的疾病特异性和结局数据 去身份化数据库里的每一个病人这一努力有助于汇编一份定义明确、 来自初治AML（主要为MO-M4）患者的94份样本的统一集，原始细胞>30%， 细胞遗传学异常，并有足够的肿瘤和生殖系DMA标本进行DMA序列 分析，基于阵列的基因组研究，以确定拷贝数变化和单亲二体，和基于阵列的 基因表达谱

Core A is responsible for the identification and enrollment of every adult patient referred to the Siteman Cancer Center with newly diagnosed and relapsed acute myeloid leukemia (AML) and Myelodysplastic Syndrome (MDS). The clinical and pathologic material from these patients are entered into databases that are required for the execution of this program project. Additionally, clinical, pathologic and therapeutic information are essential for determining the clinical relevance of a newly identified genetic mutation. The Clinical Database Core (Core A) was established in 2002 to serve as a platform for the investigation of genetic mutations associated with the pathogenesis of MDS and acute myeloid leukemia, and has two Specific Aims, as follows: Specific Aim 1: We will prospectively identify and enroll on study all patients with newly diagnosed or relapsed AML and MDS referred to Washington University Siteman Cancer Center. Since its establishment, Core A has been responsible for banking tissue from 167 MDS and 387 AML patients (-98% accrual) according to an IRB approved Tissue Acquisition protocol. From these 554 patients, bone marrow was collected from 515 (93%), blood from 517 (93%), serum from 455 (82%), skin from 495 (89%), and oral mucosa cells from 376 (68%), as of 4/1/07. Additional tumor specimens were collected from 28 of the AML patients at the time of relapse/progression; additional tumor specimens were collected from 13 of the MDS patients at the time of progression to AML. Since January of 2007, 43 patients have been reconsented so that their samples can be used for the whole genome resequencing studies of Project 1. Specific Aim 2: We will establish a comprehensive clinical leukemia database that will capture epidemiological data, disease-related characteristics, prognostic factors, therapeutic information, and outcomes from all newly diagnosed and relapsed AML and MDS patients referred to Siteman Cancer Center. Along with genomic data obtained on specimens collected from these patients and stored in the Specimen Acquisition and Expression Profiling Core (Core B), this comprehensive database will provide the Project 2 and the Biostatistics Core (Core C) with critical elements to test and validate the prognostic significance of any given mutation. Comprehensive disease-specific and outcomes data has been compiled on every patient in a de-identified database. This effort has facilitated the compilation of a well defined and uniform set of 94 samples from patients with de novo AML (primarily MO-M4) with >30% blasts, <2 clonal cytogenetic abnormalities, and with adequate tumor and germline DMA specimens for DMA sequence analysis, array-based genomic studies to define copy number changes and uniparental disomy, and arraybased gene expression profiling.