Thompson Lester D R, Jo Vickie Y, Agaimy Abbas, Llombart-Bosch Antonio, Morales Gema Nieto, Machado Isidro, Flucke Uta, Wakely Paul E, Miettinen Markku, Bishop Justin A
Southern California Permanente Medical Group, Department of Pathology, Woodland Hills Medical Center, 5601 De Soto Avenue, Woodland Hills, CA, 91365, USA.
Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Head Neck Pathol. 2018 Jun;12(2):181-192. doi: 10.1007/s12105-017-0851-9. Epub 2017 Sep 5.
Sinonasal tract (SNT) alveolar rhabdomyosarcoma (ARMS) are frequently misdiagnosed, especially in adults. Fifty-two adult (≥18 years) patients with SNT ARMS were reviewed and characterized by immunohistochemistry and molecular studies. Twenty-six females and 26 males (18-72 years; mean 43.2 years), presented after a short duration (mean 2.6 months) with a large (mean 5.5 cm) destructive nasal cavity mass, involving multiple contiguous paranasal sites (n = 46) and with cervical adenopathy (n = 41). The tumors showed an alveolar, nested to solid growth pattern below an intact, but often involved (n = 9) epithelium with frequent necrosis (n = 37), destructive bone invasion (n = 30), and lymphovascular invasion (n = 25). The neoplastic cells were dyshesive and dilapidated, with crush artifacts. Rhabdoid features (n = 36) and tumor cell multinucleation (n = 28) were common. Mitotic counts were high (mean 17/10 HPFs). The neoplastic cells showed the following immunohistochemical positive findings: desmin (100%), myogenin (100%), MYOD1 (100%), MSA (96%), SMA (52%), CAM5.2 (50%), AE1/AE3 (36%); other positive markers included S100 protein (27%), CD56 (100%), synaptophysin (35%), and chromogranin (13%). Overall, 54% show epithelial marker reactivity. Molecular studies showed FOXO1 translocations (81%) with PCR demonstrating PAX3 in 72.7% tested. Patients presented with high stage (IV 24; III 26) and metastatic disease (lymph nodes n = 41; distant metastases n = 25) (IRSG grouping). Surgery (n = 16), radiation (n = 41) and chemotherapy (n = 45) yielded an overall survival of 36.1 months (mean; range 2.4-286); 18 alive without disease (mean 69.6 months); 7 alive with disease (mean 11.0 months); 1 dead without disease (63.7 months); and 26 dead with disease (mean 18.5 months). SNT ARMS frequently present in adults as a large, destructive midline mass of short symptom duration, with high stage disease. The alveolar to solid pattern of growth of cells with rhabdoid-plasmacytoid features suggests the diagnosis, but epithelial immunohistochemistry markers are present in 54% of cases, leading to misdiagnosis as carcinomas if muscle markers are not also performed. Overall survival of 36.1 months is achieved with multimodality therapy, but 64% have incurable disease (16.9 months). Mixed anatomic site (p = 0.02) was a significant adverse prognostic indicator, while stage (0.06) and tumor size >5 cm (0.06) approached marginal significance.
鼻窦道（SNT）肺泡横纹肌肉瘤（ARMS）常被误诊，尤其是在成人中。对52例成年（≥18岁）SNT ARMS患者进行了回顾性研究，并通过免疫组织化学和分子研究进行特征分析。26例女性和26例男性（年龄18 - 72岁；平均43.2岁），病程较短（平均2.6个月），表现为鼻腔内较大（平均5.5 cm）的破坏性肿块，累及多个相邻鼻窦部位（n = 46），伴有颈部淋巴结肿大（n = 41）。肿瘤表现为肺泡状、巢状至实性生长模式，位于完整但常受累（n = 9）的上皮下方，常有坏死（n = 37）、破坏性骨侵犯（n = 30）和淋巴管侵犯（n = 25）。肿瘤细胞黏附性差且破损，有挤压假象。横纹肌样特征（n = 36）和肿瘤细胞多核化（n = 28）常见。有丝分裂计数高（平均17/10个高倍视野）。肿瘤细胞显示以下免疫组织化学阳性结果：结蛋白（100%）、肌生成素（100%）、MYOD1（100%）、肌动蛋白（96%）、平滑肌肌动蛋白（52%）、CAM5.2（50%）、AE1/AE3（36%）；其他阳性标志物包括S100蛋白（27%）、CD56（100%）、突触素（35%）和嗜铬粒蛋白（13%）。总体而言，54%显示上皮标志物反应性。分子研究显示FOXO1易位（81%），PCR检测显示72.7%的病例中有PAX3。患者多为晚期（IV期24例；III期26例）和转移性疾病（淋巴结转移n = 41；远处转移n = 25）（国际横纹肌肉瘤研究组[IRSG]分组）。手术（n = 16）、放疗（n = 41）和化疗（n = 45）后的总生存期为36.1个月（平均；范围2.4 - 286个月）；18例无病存活（平均69.6个月）；7例带病存活（平均11.0个月）；1例无病死亡（63.7个月）；26例因病死亡（平均18.5个月）。SNT ARMS在成人中常表现为病程短、体积大、具有破坏性的中线肿块，且疾病分期高。具有横纹肌样 - 浆细胞样特征的细胞从肺泡状到实性的生长模式提示了诊断，但54%的病例存在上皮免疫组织化学标志物，如果不同时检测肌肉标志物，易误诊为癌。多模式治疗可实现36.1个月的总生存期，但64%的患者患有无法治愈的疾病（16.9个月）。混合解剖部位（p = 0.02）是一个显著的不良预后指标，而分期（0.06）和肿瘤大小>5 cm（0.06）接近临界显著性。
