NF Research Initiative

GeM Consortium

Genomics of MPNSTs

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.

Join Us!

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)