Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors
A partir d'échantillons tumoraux prélevés sur des patients atteints d'une neurofibromatose de type 1, cette étude identifie des mutations somatiques du gène SUZ12 chez les patients ayant développé des tumeurs malignes des gaines des nerfs périphériques
Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed genome-wide or targeted sequencing on 50 cases. Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation.