Genomics of MPNST (GeM) Consortium
The NF Research Initiative at Boston Children's Hospital seeks to transform therapeutic development of NF-1 related Malignant Peripheral Nerve Sheath Tumors (MPNST) through international collaboration to improve the biological understanding of tumor progression in this disorder.
- Collect >100 NF1-related and/or sporadic MPNST tumors and paired normal tissue/blood from participants consented for whole genome sequencing and specimen/data sharing
- Display clinical and genomic data across all samples in a cloud-based data exchange to facilitate pre-clinical research directed at identifying therapeutic targets for this tumor type
International collaborative research and open sharing of clinical and genetic data will advance our knowledge of NF-related MPNSTs, and will place us on a trajectory toward improved clinical care for our patients.
The NFRI is recruiting member institutions to join the Gem Consortium. We are funded by philanthropy and can provide support for:
- The submission of clinical data and samples to the GeM Consortium
- Central pathology review of all samples (including immunohistochemistry, H&E)
- Whole genome sequencing, RNA-Seq, and copy number analysis (for samples sent to the Coordinating Center; to be performed at a centralized sequencing site.
- Genomic analysis by TCGA team at the Broad Institute
- Hosting consortium data (clinical, pathology, genomics) in a cloud-based data exchange (each site PI will have secure access). Option to have data from individual sites embargoed for your own analysis prior to being open to other qualified researchers
- Periodic in-person meetings of the Steering Committee
We have administrative support from a full-time Program Coordinator and a full-time Administrative Assistant to coordinate consortium meetings and logistics.
Requirements to Participate
- Able to contribute MPNST (preferably NF-1 related, but also sporadic) and paired normal samples. Application will require data on how many patients a site had each year with NF1 clinical diagnosis and MPNST or sporadic MPSNT (list grade; years 2014, 2015, 2016)
- Willingness to participate in collecting clinical data; application will ask if your site currently has a study coordinator who can facilitate chart review, etc.
- Interest and ability to contribute intellectually to the effort. Application will require designation of a PI to represent each site on the Steering Committee and include updated NIH bio-sketch for this individual
- Samples collected for each patient must include: one or more sites of MPNST as a fresh frozen resection specimen; peripheral blood sample; FFPE slides for pathology review
- IRB protocol with all participants consented for whole genome sequencing and sharing of clinical and genomic data through a dedicated secure portal (most GeM Consortium sites are using their local institution’s IRB to participate)