Azharudeen Mohamed, Selvaraj Jayachandran, Pillai Vivekanandan, Meyyappan Jeyakumar, Veeranki Vamsidhar
General Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, IND.
Cureus. 2021 Sep 28;13(9):e18341. doi: 10.7759/cureus.18341. eCollection 2021 Sep.
Malignant peripheral nerve sheath tumor (MPNST) is a rare, aggressive sarcomatous tumor that arises from peripheral nerve sheath and shows Schwann cell differentiation. They are commonly seen among cases with existing benign plexiform neurofibromas, prior radiation treatment, and large germline mutations involving the entire neurofibromatosis 1 (NF1) gene. MPNST can have varied presentations; hence diagnosis remains a great challenge. Here we report a rare case of MPNST in an NF1 patient who presented with Horner´s syndrome. A young male reported swelling in the neck, dyspnea on exertion, and dysphagia. Subsequently, he was diagnosed to have a malignant peripheral nerve sheath tumor arising from the mediastinum and compressing the ipsilateral cervical sympathetic plexus causing Horner's syndrome. The patient underwent surgical resection of the mediastinal mass followed by chemotherapy. His symptoms improved significantly following treatment. This case report emphasizes the fact that high suspicion of MPNST is required when NF1 cases present with mass lesions, so that early surgical clearance with chemoradiation may offer a near-complete cure.
恶性外周神经鞘膜瘤（MPNST）是一种罕见的侵袭性肉瘤性肿瘤，起源于外周神经鞘膜，具有施万细胞分化特征。它们常见于患有现有的良性丛状神经纤维瘤、既往接受过放射治疗以及涉及整个神经纤维瘤病1型（NF1）基因的大片种系突变的病例中。MPNST可有多种表现形式，因此诊断仍然是一项巨大挑战。在此，我们报告一例NF1患者发生MPNST的罕见病例，该患者表现为霍纳综合征。一名年轻男性报告颈部肿胀、活动时呼吸困难和吞咽困难。随后，他被诊断为起源于纵隔并压迫同侧颈交感神经丛导致霍纳综合征的恶性外周神经鞘膜瘤。该患者接受了纵隔肿块的手术切除，随后进行了化疗。治疗后他的症状明显改善。本病例报告强调了这样一个事实，即当NF1患者出现肿块病变时，需要高度怀疑MPNST，以便早期手术清除并进行放化疗可能带来近乎完全的治愈。
