Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio.
Pediatr Blood Cancer. 2019 Feb;66(2):e27520. doi: 10.1002/pbc.27520. Epub 2018 Nov 8.
Malignant peripheral nerve sheath tumor (MPNST) is a rare soft-tissue sarcoma with an unfavorable prognosis and limited therapeutic options. MPNSTs can be sporadic, but are often associated with neurofibromatosis (NF) 1 and usually arise from preexisting neurofibromas. MPNSTs in patients with NF2 have been reported in only exceedingly rare cases, and the mechanisms underlying transformation into an MPNST have not been fully elucidated. Here, we describe the clinicopathological and genomic features of a peripheral nerve sheath tumor (PNST), with a primary diagnosis of a neurofibroma, as it transforms into a high-grade MPNST in the context of NF2.
恶性外周神经鞘瘤（MPNST）是一种罕见的软组织肉瘤，预后不良，治疗选择有限。MPNST 可以是散发性的，但常与神经纤维瘤病（NF）1 相关，通常起源于先前存在的神经纤维瘤。NF2 患者的 MPNST 已在极少数情况下报道，其转化为 MPNST 的机制尚未完全阐明。在这里，我们描述了一个外周神经鞘瘤（PNST）的临床病理和基因组特征，最初诊断为神经纤维瘤，在 NF2 背景下转化为高级别 MPNST。
