NF1 Deletions in S-100 Protein-Positive and Negative Cells of Sporadic and Neurofibromatosis 1 (NF1)-Associated Plexiform Neurofibromas and Malignant Peripheral Nerve Sheath Tumors

摘要: Although plexiform neurofibroma (PN) is thought to represent a benign neoplasm with the potential for malignant transformation (malignant peripheral nerve sheath tumor; MPNST), its neoplastic nature has been difficult prove due cellular heterogeneity, which hampers standard molecular genetic analysis. Its mixed composition typically includes Schwann cells, fibroblasts, perineurial-like and mast cells. NF1 loss of heterozygosity reported in subsets PNs, it remains uncertain cell type(s) harbor these alterations. Using dual-color fluorescence situ hybridization immunohistochemistry technique, we studied gene status S-100 protein-positive -negative subpopulations archival paraffin-embedded specimens from seven two atypical one cellular/atypical PN, eight MPNSTs derived 13 patients, had neurofibromatosis type 1 (NF1). was detected four PNs deletions entirely restricted protein-immunoreactive In contrast, all harbored deletions, regardless protein expression or clinical status. Our results suggest that primary component protein-negative cells MPNST dedifferentiated both NF1-associated sporadic tumors.