33例头颈部胚胎型横纹肌肉瘤临床与病理特点分析

doi:10.19438/j.cjoms.2022.03.016

摘要/Abstract

摘要： 目的: 总结头颈部胚胎型横纹肌肉瘤（embryonal rhabdomyosarcoma,ERMS）的临床表现、影像学特征、治疗方法及病理特点,为临床提供参考。方法: 回顾性分析2012年2月—2021年9月郑州大学第一附属医院经病理确诊为ERMS的患者33例,分析其临床病理特点。采用SPSS 19.0软件包对数据进行统计学分析。结果: 患者年龄9个月~59岁,平均年龄为（12.1±13.9）岁。就诊的主要症状为肿胀、疼痛和麻木。CT表现为低密度影,MRI在T1WI呈中等信号,T2WI呈中至高信号。免疫组织化学染色结果显示,22例Desmin阳性、23例myogenin阳性、22例Myo D1阳性、Ki-67增殖指数为57%±19%。发生颈淋巴结转移的患者,Ki-67指数显著高于无转移组[(63.5±10.96)%∶（53.4±21.5）%,P=0.022]。利用ROC曲线分析Ki-67指数对预测ERMS颈淋巴结转移的价值,颈淋巴结转移者,ROC曲线下面积为0.75(P=0.024)。Ki-67指数>55%时,敏感度为100%,特异度为65%。结论: 头颈部ERMS好发于儿童及青少年,CT、MRI结合PET-CT等检查可以指导诊断、治疗、监测复发及转移。组织病理检查是ERMS诊断的金标准,Ki-67指数与颈淋巴结转移相关。

关键词: 胚胎型横纹肌肉瘤, 头颈部, 临床特点, 病理学特点

Abstract: PURPOSE: To summarize the clinical manifestations, imaging characteristics, treatment and pathological types of embryonal rhabdomyosarcoma (ERMS) in the head and neck, in order to provide reference for the diagnosis and treatment of the disease. METHODS: Thirty-three cases with ERMS diagnosed by pathology in the First Affiliated Hospital of Zhengzhou University from February 2012 to September 2021 were analyzed retrospectively, and their clinicopathological data were analyzed. SPSS 19.0 software package was used for statistical analysis. RESULTS: The age of the patients ranged from 9 months to 59 years old, with an average age of(12.1±13.9) years. The main symptoms were swelling, pain and numbness. It showed low density on CT, medium signal on MRI on T1WI and medium to high signal on T2WI. Immunohistochemical results showed that 22 cases were Desmin positive, 23 were myogenin positive, 22 were MyoD1 positive, and Ki-67 proliferation index was 57%±19%. The Ki-67 index in cases with cervical lymph node metastasis was significantly higher than that in cases without cervical lymph node metastasis [(63.5±10.96)%:(53.4±21.5)%, P=0.022]. ROC curve was used to analyze the power of Ki-67 index in predicting cervical lymph node spread. The area under ROC curve of end-stage patients was 0.75 (P=0.024). A cut-off value of >55% resulted in sensitivity of 100% and specificity of 65%. CONCLUSIONS: Head and neck ERMS is common in children and adolescents. CT, MRI combined with PET-CT and other imaging examinations can guide the diagnosis, treatment and monitoring of recurrence and metastasis. Pathological examination is the gold standard for ERMS diagnosis. Cervical lymph node metastasis is associated with Ki-67 values.

Key words: Embryonal rhabdomyosarcoma, Head and neck, Clinical features, Pathological features

中图分类号:

R739.8

徐卫靖, 高振杰, 付坤, 高宁, 程龙, 何巍. 33例头颈部胚胎型横纹肌肉瘤临床与病理特点分析[J]. 中国口腔颌面外科杂志, 2022, 20(3): 292-297.

XU Wei-jing, GAO Zhen-jie, FU Kun, GAO Ning, CHENG Long, HE Wei. Clinical, pathological analysis of 33 cases of embryonal rhabdomyosarcoma of head, neck[J]. China J Oral Maxillofac Surg, 2022, 20(3): 292-297.

参考文献

[1] Bisogno G, De Salvo GL, Bergeron C, et al.Vinorelbine and continuous low-dose cyclophosphamide as maintenance chemotherapy in patients with high-risk rhabdomyosarcoma (RMS 2005): a multicentre, open-label, randomised, phase 3 trial[J]. Lancet Oncol, 2019, 20(11): 1566-1575.
[2] Sbaraglia M, Bellan E, Dei Tos AP.The 2020 WHO classification of soft tissue tumours: news and perspectives[J]. Pathologica, 2021, 113(2): 70-84.
[3] Drabbe C, Benson C, Younger E, et al.Embryonal and alveolar rhabdomyosarcoma in adults: real-life data from a tertiary sarcoma centre[J]. Clin Oncol (R Coll Radiol), 2020, 32(1): e27-e35.
[4] Radzikowska J, Kukwa W, Kukwa A, et al.Rhabdomyosarcoma of the head and neck in children[J]. Contemp Oncol (Pozn), 2015, 19(2): 98-107.
[5] Iatrou I, Theologie-Lygidakis N, Schoinohoriti O, et al.Rhabdomyosarcoma of the maxillofacial region in children and adolescents: report of 9 cases and literature review[J]. J Craniomaxillofac Surg, 2017, 45(6): 831-838.
[6] Gennaro N, Marrari A, Renne SL, et al.Multimodality imaging of adult rhabdomyosarcoma: the added value of hybrid imaging[J]. Br J Radiol, 2020, 93(1112): 20200250.
[7] McInturff M, Adamson A, Donaldson C, et al. Embryonal rhabdomyosarcoma of the oral cavity[J]. Head Neck Pathol, 2017, 11(3): 385-388.
[8] Jawad N, McHugh K. The clinical and radiologic features of paediatric rhabdomyosarcoma[J]. Pediatr Radiol, 2019, 49(11): 1516-1523.
[9] Inarejos Clemente EJ, Navallas M, Barber Martínez de la Torre I, et al. MRI of rhabdomyosarcoma and other soft-tissue sarcomas in children[J]. Radiographics, 2020, 40(3): 791-814.
[10] Donner D, Feraco P, Meneghello L, et al.Usefulness of 18f-FDG PET-CT in staging, restaging, and response assessment in pediatric rhabdomyosarcoma[J]. Diagnostics (Basel), 2020, 10(12): 1112-1117.
[11] Rosenthal J, Cardona K, Sayyid SK, et al.Nodal metastases of soft tissue sarcomas: risk factors, imaging findings, and implications[J]. Skeletal Radiol, 2020, 49(2): 221-229.
[12] El-Kholy E, El Nadi E, Hafez H, et al.Added predictive value of 18F-FDG PET/CT for pediatric rhabdomyosarcoma[J]. Nucl Med Commun, 2019, 40(9): 898-904.
[13] Jeyaraju M, Macatangay RA, Munchel AT, et al.Embryonal rhabdomyosarcoma with posttherapy cytodifferentiation and aggressive clinical course[J]. Case Rep Pathol, 2021, 2021: 1800854.
[14] Wang X, Feng J, Li Z, et al.Characteristics and prognosis of embryonal rhabdomyosarcoma in children and adolescents: an analysis of 464 cases from the SEER database[J]. Pediatr Investig, 2020, 4(4): 242-249.
[15] Pontes FS, de Oliveira JI, de Souza LL, et al. Clinicopathological analysis of head and neck rhabdomyosarcoma: a series of 10 cases and literature review[J]. Med Oral Patol Oral Cir Bucal, 2018, 23(2): e188-e197.
[16] Rudzinski ER, Teot LA, Anderson JR, et al.Dense pattern of embryonal rhabdomyosarcoma, a lesion easily confused with alveolar rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group[J]. Am J Clin Pathol, 2013, 140(1): 82-90.
[17] Glosli H, Bisogno G, Kelsey A, et al.Non-parameningeal head and neck rhabdomyosarcoma in children, adolescents, and young adults: experience of the European paediatric soft tissue sarcoma Study Group (EpSSG) - RMS2005 study[J]. Eur J Cancer, 2021,151: 84-93.
[18] Gallego S, Bernabeu D, Garrido-Pontnou M, et al.GEIS-SEHOP clinical practice guidelines for the treatment of rhabdomyosarcoma[J]. Clin Transl Oncol, 2021, 23(12): 2460-2473.
[19] Zhang Y, Zhang WL, Huang DS, et al.Prognostic factors in children with head and neck rhabdomyosarcoma: a 12-year retrospective study[J]. Brain Behav, 2020, 10(8): e01697.
[20] Dombrowski ND, Wolter NE, Robson CD, et al.Role of surgery in rhabdomyosarcoma of the head and neck in children[J]. Laryngoscope, 2021, 131(3): E984-E992.
[21] Wen Y, Huang D, Zhang W, et al.Radiation therapy is an important factor to improve survival in pediatric patients with head and neck rhabdomyosarcoma by enhancing local control: a historical cohort study from a single center[J]. BMC Pediatr, 2020, 20(1): 265-274.
[22] Soffer S, Amitai MM, Shimon O, et al.Rhabdomyosarcoma disease spread evaluation on CT scans: association with primary tumor size and Ki-67 proliferation marker[J]. Clin Imaging, 2019, 56: 41-46.
[23] van Erp AEM, Hillebrandt-Roeffen MHS, van Houdt L, et al. Targeting anaplastic lymphoma kinase (ALK) in rhabdomyosarcoma (RMS) with the second-generation ALK inhibitor ceritinib[J]. Target Oncol, 2017, 12(6): 815-826.
[24] Xu B, Suurmeijer A, Agaram NP, et al.Head and neck rhabdomyosarcoma with TFCP2 fusions and ALK overexpression: a clinicopathological and molecular analysis of 11 cases[J]. Histopathology, 2021,79(3): 347-357.
[25] Camero S, Vitali G, Pontecorvi P, et al.DNMT3A and DNMT3B targeting as an effective radiosensitizing strategy in embryonal rhabdomyosarcoma[J]. Cells, 2021,10(11): 2956-2963.
[26] Sun J, Lin W, Li C, et al.Repurposing of posaconazole as a hedgehog/SMO signaling inhibitor for embryonal rhabdomyosarcoma therapy[J]. Am J Cancer Res, 2021,11(9): 4528-4540.