Sekeres Mikkael A, Gore Steven D, Stablein Donald M, DiFronzo Nancy, Abel Gregory A, DeZern Amy E, Troy Jesse D, Rollison Dana E, Thomas John W, Waclawiw Myron A, Liu Jane Jijun, Al Baghdadi Tareq, Walter Matthew J, Bejar Rafael, Gorak Edward J, Starczynowski Daniel T, Foran James M, Cerhan James R, Moscinski Lynn C, Komrokji Rami S, Deeg H Joachim, Epling-Burnette Pearlie K
Cleveland Clinic, Cleveland, OH, USA.
Yale Cancer Center, New Haven, CT, USA.
Leuk Lymphoma. 2019 Dec;60(13):3161-3171. doi: 10.1080/10428194.2019.1616186. Epub 2019 May 21.
Myelodysplastic syndromes (MDS), a spectrum of heterogeneous hematopoietic stem cell diseases, vary in clinical severity, response to therapy, and propensity toward progression to acute myeloid leukemia. These are acquired clonal disorders resulting from somatic mutations within the hematopoietic stem or progenitor cell population. Understanding the natural history and the risk of developing leukemia and other adverse outcomes is dependent on access to well-annotated biospecimens linked to robust clinical and molecular data. To facilitate the acquisition and distribution of MDS biospecimens to the wider scientific community and support scientific discovery in this disease, the National MDS Natural History study was initiated by the National Heart, Lung, and Blood Institute (NHLBI) and is being conducted in collaboration with community hospitals and academic medical centers supported by the National Cancer Institute (NCI). The study will recruit up to 2000 MDS patients or overlapping myeloproliferative neoplasms (MDS/MPN) and up to 500 cases of idiopathic cytopenia of undetermined significance (ICUS). The National MDS Natural History Study (NCT02775383) will offer the world's largest disease-focused tissue biobank linked to longitudinal clinical and molecular data in MDS. Here, we report on the study design features and describe the vanguard phase of 200 cases. The study assembles a comprehensive clinical database, quality of life results, laboratory data, histopathology slides and images, genetic information, hematopoietic and germline tissues representing high-quality biospecimens and data from diverse centers across the United States. These resources will be available to the scientific community for investigator-initiated research.
骨髓增生异常综合征（MDS）是一类异质性造血干细胞疾病，临床严重程度、对治疗的反应以及进展为急性髓系白血病的倾向各不相同。这些是由造血干细胞或祖细胞群体中的体细胞突变引起的后天性克隆性疾病。了解其自然病史以及发生白血病和其他不良后果的风险，取决于能否获取与丰富的临床和分子数据相关联的注释完善的生物样本。为促进MDS生物样本向更广泛的科学界的采集和分发，并支持对该疾病的科学发现，美国国立心肺血液研究所（NHLBI）发起了国家MDS自然史研究，并与由美国国立癌症研究所（NCI）支持的社区医院和学术医疗中心合作进行。该研究将招募多达2000例MDS患者或重叠的骨髓增殖性肿瘤（MDS/MPN），以及多达500例意义未明的特发性血细胞减少症（ICUS）。国家MDS自然史研究（NCT02775383）将提供世界上最大的以疾病为重点的组织生物样本库，该样本库与MDS的纵向临床和分子数据相关联。在此，我们报告研究设计特点并描述200例患者的先锋阶段。该研究收集了一个全面的临床数据库、生活质量结果、实验室数据、组织病理学切片和图像、遗传信息、造血和生殖系组织，这些代表了高质量的生物样本以及来自美国各地不同中心的数据。这些资源将提供给科学界用于研究者发起的研究。
