A C Senthilkumar, Sridharan S, Mahendra B, Chander V
Department of Surgical Oncology, Saveetha Medical College Hospital, India.
Department of General Surgery, Saveetha Medical College Hospital, India.
Int J Surg Case Rep. 2019;64:161-164. doi: 10.1016/j.ijscr.2019.10.004. Epub 2019 Oct 10.
Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive sarcomatous tumors that arise from peripheral nerve sheaths and show schwann cell differentiation (Thangadurai, 2017) [1]. They commonly arise among patients with neurofibromatosis I and following radiation therapy (Farid et al., 2014). High resolution PET scans confirm the diagnosis and the definitive treatment is surgical excision. Post operative radiotherapy plays an important role in disease free survival rates. Chemotherapy is offered to people who have a systemic disease.
This case report is on a 47 year old lady, a known case of Von Recklinghausen, who complained of a vague mass in the pelvis with recent history of pain to her right thigh. Pelvic examination revealed a vague mass on the right side of her pelvis. She was planned for excision of the mass. Intraoperative findings were consistent with the clinical and radiological findings. She is currently on regular follow-up and disease free.
MPNSTs are rare tumours that arise in patients with neurofibromatosis I. Mutations at the genetic level is responsible for the development of MPNST. Early presentation, radiological confirmation, aggressive margin free surgery followed by chemoradiation helps in near complete cure of the disease.
MPNST are difficult to manage because of their aggressive nature and the limitations in early diagnosis and management. In patients with Von Recklinghausens disease, malignancy must be suspected when a patient presents with the complaints as mentioned in this case report.
恶性外周神经鞘瘤（MPNST）是罕见的侵袭性肉瘤肿瘤，起源于外周神经鞘，表现为施万细胞分化（坦加杜赖，2017年）[1]。它们常见于患有I型神经纤维瘤病的患者以及接受放射治疗后（法里德等人，2014年）。高分辨率PET扫描可确诊，明确的治疗方法是手术切除。术后放疗在无病生存率方面起着重要作用。对于患有全身性疾病的患者给予化疗。
本病例报告的是一位47岁女性，她是冯·雷克林豪森病的已知病例，主诉骨盆有一个模糊的肿块，近期右大腿疼痛。盆腔检查发现其骨盆右侧有一个模糊的肿块。她被计划切除该肿块。术中发现与临床和影像学检查结果一致。她目前正在定期随访，且无疾病。
MPNST是在I型神经纤维瘤病患者中出现的罕见肿瘤。基因水平的突变是MPNST发生的原因。早期表现、影像学确诊、积极的切缘阴性手术，随后进行放化疗有助于几乎完全治愈该疾病。
由于其侵袭性以及早期诊断和治疗的局限性，MPNST难以处理。在患有冯·雷克林豪森病的患者中，当患者出现本病例报告中所述的症状时，必须怀疑有恶性肿瘤。
