NF Research Initiative

Reference Articles

NF1 and MPNST

 

Reference Articles

 
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clinical

  1. AACR Project GENIE: Powering Precision Medicine through an International Consortium

  2. Mindell Seidlin, et al. (2017). Characterization and utilization of an international neurofibromatosis web-based, patient–entered registry: An observational study. PLoS ONE 12(6): e0178639. https://doi.org/10.1371/journal.pone.0178639

  3. AeRang Kim, et al. (2017). Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies, Sarcoma, Article ID 7429697, 1-10. https://doi.org/10.1155/2017/7429697

  4. Dunn, G. P., et al. (2013). "Role of resection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis type 1." J Neurosurg 118(1): 142-148.

  5. Frustaci, S., et al. (2001). "Adjuvant chemotherapy for adult soft tissue sarcomas of the extremities and girdles: results of the Italian randomized cooperative trial." J Clin Oncol 19(5): 1238-1247.

  6. Hruban, R. H., et al. (1990). "Malignant peripheral nerve sheath tumors of the buttock and lower extremity. A study of 43 cases." Cancer 66(6): 1253-1265.

  7. Kaushal, A. and D. Citrin (2008). "The role of radiation therapy in the management of sarcomas." Surg Clin North Am 88(3): 629-646, viii.

  8. Kim, A., et al. (2017). "Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies." Sarcoma 2017: 7429697.

  9. Korf, Bruce R., and Allan E. Rubenstein. Neurofibromatosis: a Handbook for Patients, Families, and Health Care Professionals. Second ed., Thieme, 2005.

  10. Prudner, B. C., et al. (2019). "Diagnosis and management of malignant peripheral nerve sheath tumors: Current practice and future perspectives." Neuro-Oncology Advances.

  11. Yang, J. C., et al. (1998). "Randomized prospective study of the benefit of adjuvant radiation therapy in the treatment of soft tissue sarcomas of the extremity." J Clin Oncol 16(1): 197-203.

  12. Zambo, I. and K. Vesely (2014). "[WHO classification of tumours of soft tissue and bone 2013: the main changes compared to the 3rd edition]." Cesk Patol 50(2): 64-70.

 
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GeneticS

  1. AeRang Kim, et al. (2017). Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies, Sarcoma, Article ID 7429697, 1-10. https://doi.org/10.1155/2017/7429697

  2. Alexandrov, L. B., et al. (2016). "Mutational signatures associated with tobacco smoking in human cancer." Science 354(6312): 618-622

  3. Beert, E., et al. (2011). "Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors." Genes Chromosomes Cancer 50(12): 1021-1032.             

  4. Cancer Genome Atlas Research Network. Electronic address, e. d. s. c. and N. Cancer Genome Atlas Research (2017). "Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas." Cell 171(4): 950-965 e928.

  5. Carroll, S. L. (2016). "The Challenge of Cancer Genomics in Rare Nervous System Neoplasms: Malignant Peripheral Nerve Sheath Tumors as a Paradigm for Cross-Species Comparative Oncogenomics." Am J Pathol 186(3): 464-477.

  6. Cerami, E., et al. (2012). "The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data." Cancer Discov 2(5): 401-404.

  7. Cortes-Ciriano, I., et al. (2017). "A molecular portrait of microsatellite instability across multiple cancers." Nat Commun 8: 15180.

  8. Danielsen, S. A., et al. (2015). "Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis." Neuro Oncol 17(1): 63-69.

  9. Davoli, T., et al. (2017). "Tumor aneuploidy correlates with markers of immune evasion and with reduced response to immunotherapy." Science 355(6322)             

  10. De Raedt, T., et al. (2014). "PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies." Nature 514(7521): 247-251.

  11. Eisenbarth, I., et al. (2000). "Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1." Am J Hum Genet 66(2): 393-401.

  12. Evans, D. G., et al. (2012). "Malignant peripheral nerve sheath tumours in inherited disease." Clin Sarcoma Res 2(1): 17.

  13. Evans, D. G. R. (2002). Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Journal of Medical Genetics, 39(5), 311–314. http://doi.org/10.1136/jmg.39.5.311

  14. Ferner, R. E. and D. H. Gutmann (2002). "International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis." Cancer Res 62(5): 1573-1577.

  15. Gao, J., et al. (2013). "Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal." Sci Signal 6(269): pl1.

  16. Hirbe, A. C., et al. (2015). "Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma." Clin Cancer Res 21(18): 4201-4211.

  17. Kovac, M., et al. (2015). "Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency." Nat Commun 6: 8940.

  18. Lee, W., et al. (2014). "PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors." Nat Genet 46(11): 1227-1232.

  19. Macintyre, G., et al. (2018). "Copy number signatures and mutational processes in ovarian carcinoma." Nat Genet 50(9): 1262-1270.

  20. McPherson, J. R., Ong, C.-K., Ng, C. C.-Y., Rajasegaran, V., Heng, H.-L., Yu, W. S.-S., … Yap, Y.-S. (2015). Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. Cancer Medicine, 4(12), 1871–1878. http://doi.org/10.1002/cam4.551

  21. Patel, A. V, Chaney, K. E., Choi, K., Largaespada, D. A., Kumar, A. R., & Ratner, N. (2016). An ShRNA Screen Identifies MEIS1 as a Driver of Malignant Peripheral Nerve Sheath Tumors ☆. EBIOM, 9, 110–119. http://doi.org/10.1016/j.ebiom.2016.06.007

  22. Pemov, A., et al. (2017). "The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas." Oncogene 36(22): 3168-3177.

  23. Pemov, A., et al. (2019). "Genetics of human malignant peripheral nerve sheath tumors." Neuro-Oncology Advances XX(XX): 1-12.

  24. Rahrmann, E. P., Watson, A. L., Keng, V. W., Choi, K., Moriarity, B. S., Beckmann, D. A., … Largaespada, D. A. (2013). Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis. Nature Genetics, 45(7), 756–66. http://doi.org/10.1038/ng.2641

  25. Rohrich, M., et al. (2016). "Methylation-based classification of benign and malignant peripheral nerve sheath tumors." Acta Neuropathol 131(6): 877-887.

  26. Spurlock, G., et al. (2010). "Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings." J Cancer Res Clin Oncol 136(12): 1869-1880.

  27. Steele, C. D., et al. (2019). "Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways." Cancer Cell 35(3): 441-456 e448.

  28. Subramanian, S., Thayanithy, V., West, R. B., Lee, C.-H., Beck, A. H., Zhu, S., … van de Rijn, M. (2010). Genome-wide transcriptome analyses reveal p53 inactivation mediated loss of miR-34a expression in malignant peripheral nerve sheath tumours. The Journal of Pathology, 220(1), 58–70. http://doi.org/10.1002/path.2633

  29. Turajlic, S., et al. (2019). "Resolving genetic heterogeneity in cancer." Nat Rev Genet 20(7): 404-416.

  30. Wu, L. M. N., et al. (2018). "Programming of Schwann Cells by Lats1/2-TAZ/YAP Signaling Drives Malignant Peripheral Nerve Sheath Tumorigenesis." Cancer Cell 33(2): 292-308 e297.

  31. Zhang, M., et al. (2014). "Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors." Nat Genet 46(11): 1170-1172.

 
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Pathology

  1. Boyd, K. P., Korf, B. R., & Theos, A. (2009). Neurofibromatosis type 1. Journal of the American Academy of Dermatology, 61(1), 1–16. http://doi.org/10.1016/j.jaad.2008.12.051

  2. Miettinen, M. M., et al. (2017). "Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview." Hum Pathol 67: 1-10.

  3. Thway, K., & Fisher, C. (2014). Malignant peripheral nerve sheath tumor: pathology and genetics. Annals of Diagnostic Pathology, 18(2), 109–16. http://doi.org/10.1016/j.anndiagpath.2013.10.007