-
摘要: 头颈部原发性软组织肉瘤是成人罕见的来源于间叶组织的结缔组织恶性肿瘤,可发生于鼻旁窦、咽喉或颈部间隙内,临床表现为头颈部局部蔓延性肿物或呼吸、吞咽困难等,MRI和增强CT检查为此类疾病最常用的检查手段,病理诊断需要免疫组织化学结合荧光原位杂交技术(FISH)检测MDM2和CDK4作为常规辅助手段,本文分别报道腮腺高分化脂肪肉瘤和喉去分化平滑肌肉瘤各1例,介绍其病例特点和诊治经过,并对该病例进行相关文献复习。Abstract: Head and neck primary soft tissue sarcoma is a rare adult connective tissue malignant tumor derived from mesenchymal tissue, which can occur in the paranasal sinuses, throat or neck space.The clinical manifestations are local spread masses in the head and neck or difficulty breathing, swallowing, etc al. MRI and enhanced CT examination are the most commonly used to diagnose such diseases. Pathological diagnosis requires immunohistochemistry combined with FISH to detect MDM2 and CDK4. In this report, two cases of primary soft tissue sarcoma were reported, one is parotid high-differentiated liposarcoma and the other is laryngeal dedifferentiated leiomyosarcoma, introducing the characteristics diagnosis and treatment, and reviewing the relevant literature.
-
Key words:
- head and neck neoplasms /
- liposarcoma /
- leiosarcoma
-
[1] de Bree E, Karatzanis A, Hunt JL, et al. Lipomatous tumours of the head and neck: a spectrum of biological behaviour[J]. Eur Arch Otorhinolaryngol, 2015, 272(5): 1061-1077. doi: 10.1007/s00405-014-3065-8
[2] Kim KS, Yang HS. Unusual locations of lipoma: differential diagnosis of head and neck mass[J]. Aust Fam Physician, 2014, 43(12): 867-870.
[3] Cappabianca S, Colella G, Pezzullo MG, et al. Lipomatous lesions of the head and neck region: imaging findings in comparison with histological type[J]. Radiol Med, 2008, 113(5): 758-770. doi: 10.1007/s11547-008-0258-5
[4] Shellenberger TD, Sturgis EM. Sarcomas of the head and neck region[J]. Curr Oncol Rep, 2009, 11(2): 135-142. doi: 10.1007/s11912-009-0020-8
[5] Colville RJ, Charlton F, Kelly CG, et al. Multidisciplinary management of head and neck sarcomas[J]. Head Neck, 2005, 27: 814-824. doi: 10.1002/hed.20232
[6] Fletcher CD. The evolving classification of soft tissue tumours-an update based on the new 2013 WHO classification[J]. Histopathology, 2014, 64(1): 2-11. doi: 10.1111/his.12267
[7] Michal M, Rubin BP, Kazakov DV, et al. Inflammatory leiomyosarcoma shows frequent co-expression of smooth and skeletal muscle markers supporting a primitive myogenic phenotype: a report of 9 cases with a proposal for reclassification as low-grade inflammatory myogenic tumor[J]. Virchows Arch, 2020, 477(2): 219-230. doi: 10.1007/s00428-020-02774-z
[8] Laroche-Clary A, Chaire V, Algeo MP, et al. Combined targeting of MDM2 and CDK4 is synergistic in dedifferentiated liposarcomas[J]. J Hematol Oncol, 2017, 10(1): 123. doi: 10.1186/s13045-017-0482-3
[9] Baliou E, Nonni A, Keramopoulos D, et al. Deregulation of p53-MDM2 auto-regulatory pathway in breast carcinoma[J]. J BUON, 2016, 21(5): 1099-1103.
[10] Michalk M, Meinrath J, Künstlinger H, et al. MDM2 gene amplification in esophageal carcinoma[J]. Oncol Rep, 2016, 35(4): 2223-2227. doi: 10.3892/or.2016.4578
[11] Panagopoulos I, Bjerkehagen B, Gorunova L, et al. Several fusion genes identified by whole transcriptome sequencing in a spindle cell sarcoma with rearrangements of chromosome arm 12q and MDM2 amplification[J]. Int J Oncol, 2014, 45(5): 1829-1836. doi: 10.3892/ijo.2014.2605
[12] Ware PL, Snow AN, Gvalani M, et al. MDM2 copy numbers in well-differentiated and dedifferentiated liposarcoma: characterizing progression to high-grade tumors[J]. Am J Clin Pathol, 2014, 141(3): 334-341. doi: 10.1309/AJCPLYU89XHSNHQO
[13] Momand J, Jung D, Wilczynski S, et al. The MDM2 gene amplification database[J]. Nucleic Acids Res, 1998, 26(15): 3453-3459. doi: 10.1093/nar/26.15.3453
[14] 朱芸, 周晓军. CDK4和MDM2在脂肪肉瘤诊断中的价值[J]. 诊断病理学杂志, 2012, 19(1): 65-67. doi: 10.3969/j.issn.1007-8096.2012.01.020
[15] 陈春燕, 张惠箴, 蒋智铭, 等. MDM2、CDK4和SATB2对诊断低级别骨肉瘤的价值[J]. 中华病理学杂志, 2016, 45(6): 387-392. doi: 10.3760/cma.j.issn.0529-5807.2016.06.007
[16] Tirumani SH, Tirumani H, Jagannathan JP, et al. Metastasis in dedifferentiated liposarcoma: Predictors and outcome in 148 patients[J]. Eur J Surg Oncol, 2015, 41: 899-904. doi: 10.1016/j.ejso.2015.01.012