Zhang Athena, Boyarsky Brandon, Hyman Theodore S, Chattopadhyay Arhana, Kim AeRang, Ortiz-Ocasio Liara S, Oh Albert K, Rogers Gary F
From the Department of Plastic and Reconstructive Surgery, Children's National Hospital, Washington, DC.
Department of Pediatric Hematology Oncology, Children's National Hospital, Washington, DC.
Plast Reconstr Surg Glob Open. 2025 Aug 1;13(8):e7024. doi: 10.1097/GOX.0000000000007024. eCollection 2025 Aug.
Neurofibromatosis type 1 is an autosomal dominant disorder predisposing patients to plexiform neurofibromas, benign tumors with an 8%-13% lifetime risk of malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are aggressive sarcomas with poor prognosis. We present the case of a 13-year-old neurofibromatosis type 1 patient with a large, pedunculated, scalp plexiform neurofibroma who underwent subtotal surgical excision to improve her appearance and ability to wear hats. The patient was treated preoperatively with selumetinib for size reduction, and the procedure was bloody. Pathology revealed that the neurofibroma had an intralesional high-grade MPNST. Margin status for the malignant component was inconclusive. Immunohistochemistry revealed loss of H3K27me3 expression, indicative of aggressive tumor biology. The patient underwent adjuvant chemotherapy followed by a re-excision of the surgical site, which showed no residual tumor.
1型神经纤维瘤病是一种常染色体显性疾病，使患者易患丛状神经纤维瘤，这种良性肿瘤在一生中发生恶性转化为恶性外周神经鞘瘤（MPNST）的风险为8%-13%。MPNST是侵袭性肉瘤，预后较差。我们报告了一例13岁的1型神经纤维瘤病患者，其患有一个带蒂的巨大头皮丛状神经纤维瘤，为改善其外观和戴帽子的能力而接受了次全手术切除。患者术前接受了司美替尼治疗以缩小肿瘤大小，手术过程出血较多。病理检查显示神经纤维瘤内有高级别MPNST。恶性成分的切缘状态不明确。免疫组化显示H3K27me3表达缺失，提示肿瘤生物学行为侵袭性强。患者接受了辅助化疗，随后再次切除手术部位，未发现残留肿瘤。
