背景:恶性外周神经鞘瘤(MPNST)是一种罕见且侵袭性的软组织肉瘤,对诊断和治疗提出了重大挑战。
方法:我们回顾性分析了2000年至2021年在我院接受治疗的头颈部MPNSTs患者。临床特征,病理表现,治疗,并对预后进行了总结。我们还回顾了文献,专注于下颌骨和上颌骨的MPNST。研究人群由5名女性和5名男性组成,年龄在22-75岁(平均年龄,49年)。在10个病人中,7例为初始病例,3例为复发病例。所有病灶均为散发性。最常见的部位是下颌骨。最常见的症状是进行性肿块和局部肿胀。在9例病例中的4例中染色时,组蛋白H3(H3K27me3)的赖氨酸27处的三甲基化的完全或部分丧失是明显的(1例由于缺乏组织以评估H3K27me3的丧失而被排除)。2年和5年疾病特异性生存率分别为86%和43%,分别。平均存活时间为64mo。
结论:MPNST是一种高度恶性的肿瘤,预后较差,易发生复发和远处转移的风险较高。完整的手术切除是主要的医治办法。
BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is a rare and aggressive soft tissue sarcoma that poses a major diagnostic and therapeutic challenge.
METHODS: We retrospectively reviewed patients with head and neck MPNSTs treated in our hospital from 2000 to 2021. The clinical features, pathological manifestations, treatments, and prognoses were summarized. We also reviewed the literature, focusing on MPNST in the mandible and maxilla. The study population consisted of five women and five men aged 22-75 years (mean age, 49 years). Of the 10 patients, 7 were initial cases and 3 were recurrent cases. All lesions were sporadic. The most common site was the mandible. The most frequently encountered symptoms were a progressive mass and local swelling. Complete or partial loss of trimethylation at lysine 27 of histone H3 (H3K27me3) was evident on staining in four of nine cases (one case was excluded due to lack of tissue for evaluation of loss of H3K27me3). The 2- and 5-year disease-specific survival rates were 86% and 43%, respectively. The average survival time was 64 mo.
CONCLUSIONS: MPNST is a highly malignant tumor with a poor prognosis, prone to a high risk of recurrence and distant metastasis. Complete surgical resection is the main treatment.