Clinical Database

核心A负责识别和登记每一位转诊给西特曼的成年患者 新诊断和复发的急性髓系白血病(AML)和骨髓增生异常的癌症中心 综合征(MDS)。这些患者的临床和病理资料被输入到数据库中， 是执行该计划项目所必需的。此外，临床、病理和治疗 信息对于确定新发现的基因突变的临床相关性是必不可少的。这个 临床数据库核心(核心A)成立于2002年，作为一个平台，以调查 基因突变与MDS和急性髓系白血病的发病机制有关，有两个 具体目标如下： 具体目标1：我们将前瞻性地识别和登记所有新诊断的患者 或复发的AML和MDS转诊至华盛顿大学西特曼癌症中心。 自成立以来，Core A一直负责167个MDS和387个AML的组织银行 根据IRB批准的组织采集方案，患者(-98%)。在这554名患者中， 采集骨髓515例(93%)，血液517例(93%)，血清455例(82%)，皮肤495例 (%)；口腔粘膜细胞376例(68%)，截至2007年4月1日。其他肿瘤标本收集自 复发/进展时的28名AML患者；其他肿瘤标本收集自 进展为急性髓系白血病时的13例MDS患者。自2007年1月以来，已有43名患者接受了 重新同意，以便他们的样本可以用于项目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患者的结果都参考了Siteman 癌症中心。以及从这些患者收集并存储在 样本采集和表达分析核心(核心B)，这个全面的数据库将提供 项目2和具有关键要素的生物统计学核心(核心C)来测试和验证预后 任何给定突变的重要性。汇编了全面的疾病具体数据和结果数据 在一个未确认身份的数据库中的每个病人身上。这一努力促进了对一份定义明确的 统一的94份样本，来自初发AML(主要是MO-M4)患者，具有30%的原始细胞，&lt；2克隆 细胞遗传学异常，并有足够的肿瘤和生殖系DMA样本用于DMA序列 分析，基于阵列的基因组研究，以定义拷贝数变化和单亲二体，以及基于阵列的 基因表达图谱。

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.