Cleofé Romagosa

Abstract Neurofibromatosis Type 1 (NF1) predisposes to peripheral nerve tumor development. The progression from a benign plexiform neurofibroma (PNF) towards a deadly malignant peripheral nerve sheath tumor (MPNST) is not completely understood but commonly involves the sequential loss of NF1, CDKN2A, and polycomb repressive complex 2 (PRC2). Here we use an iPSC-derived neural crest (NC) model to reproduce this malignant transformation through gene editing.

A 40-year-old woman consulted our ED for a 7-month history of left dorsal back pain and dyspnea. The pain was initially dull and mechanical. Her general practitioner started nonsteroidal antiinflammatory drugs and physiotherapy, which provided partial relief. One week before consulting, the intensity of the pain increased, and she started to feel shortness of breath when performing her daily activities. She had lost 5 kg during the previous month.