Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 313
- 试验地点
- 1
- 主要终点
- To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.
研究概览
简要总结
The classic Ph-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic disorders caused by a dysregulated JAK/STAT signal transduction because of acquired somatic mutations of JAK2, CALR or MPL genes. They are sporadic diseases but there are several lines of evidence that support the role of germline factors in the pathogenesis of MPN: the existence of familial clustering, the presence of more than one clone in some patients, the known existence of common polymorphisms that cause predisposition to MPN.
In this study, we would like to define the germline predisposition to MPN.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •A diagnosis of PV, ET, prePMF, overt PMF or MPN-U according to 2016 WHO criteria
- •Characterization of the MPN driver mutation performed at any moment before enrolment
- •diagnosis of MPN made when the patient was younger than 27 years old OR at least a second case of hematologic malignancies in first or second-degree relatives
排除标准
- 未提供
结局指标
主要结局
To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.
时间窗: 3 years
To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS).
时间窗: 3 years
次要结局
- To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes(3 years)
研究者
Elisa Rumi
MD
Fondazione IRCCS Policlinico San Matteo di Pavia