The 2017 NF Conference, with nearly 400 researchers and clinicians in attendance (making it the largest NF Conference to date), kicked off on Saturday, June 10th, with stem cell technology as a tool for discovering new NF1 treatments as the topic of a group of thought-provoking talks. Keynote speaker Elaine Fuchs, PhD, a specialist in skin biology, skin stem cells and associated genetic disorders, including cancers, introduced a session on how understanding and influencing these processes can be applied to NF1 skin manifestations and how these cells may hold the key to creating stable cell lines for investigation.
NF1 tumors are generally benign and slow-growing. This is good news for patients; however, it makes tumor cell lines difficult to maintain in the laboratory. To keep benign tumors growing in the lab, researchers typically perform a process that makes the cells “immortal.” The potential challenge with immortalization is that one may change some of the key cellular processes that define the tumors. Over the past years, researchers have therefore invested time and effort in the development of complementary cell systems—known as immortalized pluripotent stem cells (iPS)—that reflect most of the genetics of the original tumor while being usable as drug screening tools. These cells can also be “differentiated” into various types of tissues.
Eduard Serra, PhD, reported his group’s experience in generating and using plexiform neurofibroma (PNF)-derived iPSCs that were able to induce into neural crest stem cells and further differentiate into Schwann cells (SC). These SC carried the constitutional and the somatic naturally occurring NF1 mutations, so they have great clinical relevance. Neural crest-derived tissues are the tissues most often affected in NF1, thus this tool represents a powerful tool for exploring how NF1 gene mutations act to impair structure and function in diverse clinical manifestations of NF1 patients. Other presentations in this session discussed the use of NF1-iPSC to shed light on the biology of optic glioma, MPNST, cutaneous neurofibromas, and plexiform neurofibromas.
