NF1 Researchers Describe the Largest Effort to Define the Genetic Makeup of MPNSTs

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Dr. Angela Hirbe, a Washington University NF Center researcher, is one of leaders of the Genomics of MPNST (GeM) consortium, organized by the NF Research Initiative (NFRI) at Boston Children’s Hospital. This group of NF researchers from around the world have joined forces to perform the largest comprehensive genomic analysis of MPNST to date. This study will be very powerful given the number of cases that will be analyzed, in addition to the availability of clinical features to be paired with the genomic data.

Dr. Hirbe’s team at Washington University developed the first international registry for Plexiform NF, Atypical NF, and MPNSTs, allowing the researchers to understand the clinical implications of the associated genomic data. The GeM consortium hopes that this study will guide the development of new therapies for this aggressive cancer. The team has recently published a white paper describing the consortium, and hope to present their findings at the Children’s Tumor Foundation meeting next year.


Miller DT, Cortés-Ciriano I, Pillay N, Hirbe AC, Snuderl M, Bui MM, Piculell K, Al-Ibraheemi A, Dickson BC, Hart J, Jones K, Jordan JT, Kim RH, Lindsay D, Nishida Y, Ullrich NJ, Wang X, Park PJ, Flanagan AM. Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs. Genes (Basel). 2020 Apr 2;11(4):E387. doi: 10.3390/genes11040387. PMID: 32252413.