菲利普·扬库，医学博士、哲学博士（蒙特罗萨治疗公司，美国波士顿）
奥马尔·阿卜杜勒-瓦哈卜，医学博士（美国纽约州纽约市纪念斯隆-凯特琳癌症中心）
菲利普·扬库，医学博士、哲学博士（蒙特罗萨治疗公司，美国波士顿）
奥马尔·阿卜杜勒-瓦哈卜，医学博士（美国纽约州纽约市纪念斯隆-凯特琳癌症中心）
获奖年份： 2015
金额： 50,000 美元
Filip Janku, MD, Ph.D., and Omar Abdel-Wahab, MD were awarded a $50,000 grant for their project, “Understanding and targeting novel molecular alterations in Erdheim-Chester Disease without the BRAFV600E mutation.” This study’s purpose is to discover treatable mutations found in BRAF-negative ECD patients and test in the lab which treatments will work best for them.
最终报告
作为Janku博士、Omar Abdel-Wahab博士与法国合作者之间国际合作的一部分，研究人员首次对ECD进行了综合基因组分析，该分析同时采用了全外显子组测序（WES）与全转录组分析（通过RNA-seq）。 该研究鉴定出ECD中若干反复出现的激活突变和融合基因，相关成果已发表/
此外，研究人员仍在其临床实践中持续对ECD及相关组织细胞增生症患者进行全外显子组测序（WES）、RNA测序（RNA-seq）和靶向基因组分析。迄今为止，我们已对约40例ECD患者进行了WES检测，并发现了上述文献中未报道的其他靶向基因突变。.
Furthermore, targeted next-generation sequencing (NGS) or PCR of archival tissue samples and/or blood-derived cell-free (cf) DNA samples from 25 patients treated at MD Anderson and UCSD Moores Cancer Center were performed. Initial data were presented at the Annual ECD International Medical Symposium in September 2016. Since then, the data set has been expanded to include samples from 9 patients treated at the Memorial Sloan Kettering Cancer Center (Dr. Eli Diamond) and 2 additional patients from MD Anderson.