All investigations involving human subjects were performed after approval by an institutional review board and in accordance with the principles of ethical research guidelines described in the U.S. Common Rule. Informed written consent was obtained from each subject. The Dana-Farber Cancer Institute Institutional Review Board (IRB) determined that this research met the criteria for exemption from IRB review and was categorized as Secondary Use research.
The GeM Consortium is composed of investigators from academic centers and hospitals (“member sites”) with eligible subjects and existing tissue banking protocols with consent for biospecimen and clinical data collection; genetic testing, including but not limited to whole-genome/exome sequencing; sharing of specimens/data with outside institutions, researchers, etc. The GeM coordinating center at Boston Children's Hospital (BCH) coordinated sharing of retrospectively collected specimens from existing tumor banks and pathology archives at member sites to perform molecular characterization of MPNST and related tumors.
All specimens and data were stripped of Protected Health Information using the Safe Harbor Method and coded. The prefix of each tumor sample ID included in the final cohort in Fig. 1 (n = 95) is an abbreviation of the member site that contributed the required specimens for analysis: Royal National Orthopaedic Hospital at University College, London (“ROY,” n = 43), Moffitt Cancer Center, Tampa (“MOF,” n = 12), Mount Sinai Hospital, Toronto (“TOR,” n = 9), Massachusetts General Hospital, Boston (“MGH,” n = 8), Washington University School of Medicine, St. Louis (“WUS,” n = 6), Nagoya University, Nagoya (“NAG,” n = 4), Boston Children's Hospital/Dana-Farber Cancer Institute, Boston (“BCH,” n = 3), New York University Langone Medical Center, New York (“NYU,” n = 3), Huntsman Cancer Institute at University of Utah, Salt Lake City (“HCI,” n = 1), Lifespan Laboratories, Rhode Island Hospital, Providence (“LIF,” n = 1).
The coordinating center at BCH received coded material from the following types of biospecimens: MPNSTs (both sporadic and NF1-related); precursor and other lesions, such as benign, atypical, and PN; metastatic and local recurrence neurofibroma; related specimens such as peripheral blood or tissue for germline comparison, and normal nerve where available. Subjects with tumors that were unrelated to MPNST or neurofibroma and subjects with specimens of insufficient quality and/or quality for pathology interpretation were excluded from this study.
Comprehensive clinical and pathology report data for each participant were collected by the international MPNST Registry at Washington University School of Medicine (WUSM). Data include demographic information, disease course, tumor size/anatomic location, histologic/immuno-histochemical characteristics, diagnostic imaging, surgical procedures, systemic treatment information, neoadjuvant therapy, toxicity, clinical outcomes, and survival.
Cortes-Ciriano I., Steele C.D., Piculell K., Al-Ibraheemi A., Eulo V., Bui M.M., Chatzipli A., Dickson B.C., Borcherding D.C., Feber A., Galor A., Hart J., Jones K.B., Jordan J.T., Kim R.H., Lindsay D., Miller C., Nishida Y., Proszek P.Z., Serrano J., Sundby R.T., Szymanski J.J., Ullrich N.J., Viskochil D., Wang X., Snuderl M., Park P.J., Flanagan A.M., Hirbe A.C., Pillay N, & Miller D.T. (2023). Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discovery, 13(3), 654-671.