鼻腔鼻窦促结缔组织增生性小圆细胞肿瘤的临床病理特征:1例新发病例及2例文献复习

发布时间：2018-03-20 22:44

本文选题：促结缔组织增生性小圆细胞肿瘤　切入点：鼻腔鼻窦　出处：《复旦学报(医学版)》2017年01期 　论文类型：期刊论文

【摘要】：目的探讨鼻腔鼻窦促结缔组织增生性小圆细胞肿瘤(desmoplastic small round cell tumor,DSRCT)的临床病理特征、免疫表型、分子遗传学改变及其诊断与鉴别诊断。方法对复旦大学附属眼耳鼻喉科医院新发1例及文献报道的另2例原发于鼻腔鼻窦的DSRCT进行总结,分析其临床数据、病理学形态表现、免疫表型和分子病理改变。结果 3例均为原发于鼻腔鼻窦的DSRCT,男性1例,女性2例,平均年龄43岁(21~61岁),部位分别为上颌窦、蝶窦和筛窦,并不同程度地侵犯周围组织。临床表现为鼻塞、鼻出血、通气不畅。3例组织学形态表现均与经典部位的DSRCT相似,肿瘤由外形不规则的核深染小圆细胞组成,被增生的纤维结缔组织分隔成大小不一的巢团,细胞分化差,核分裂像易见,并伴不同程度的坏死和侵袭性生长。其中本院病例部分肿瘤细胞呈上皮样、横纹肌样或浆细胞样,局部形成假菊形团样结构。免疫组化染色结果显示瘤细胞均表达上皮、间叶和神经源性标记物。3例分别经FISH、RT-PCR及Southern blot检测证实存在EWS-WT1基因融合。此外,本院病例行电镜检查显示,瘤细胞具有大量树突状突起和细胞器,可见核旁丰富的中间丝。3例均行手术切除,并结合辅助性放化疗,其中2例文献报道的患者无瘤生存期超过2.5年,1例本院患者于术后4个月复发,1年后死亡。结论 DSRCT是一种少见的高度恶性肿瘤,发生在鼻腔鼻窦处更为罕见且预后差,充分认识其病理学特点并了解其发生的罕见部位,有助于避免漏诊和误诊。
[Abstract]:Objective to investigate the clinicopathological features and immunophenotype of desmoplastic small round cell tumor DSRCTs. Methods the clinical data and pathological features of 1 new case of DSRCT in the nasal cavity and paranasal sinuses and 2 other cases reported in the literature were summarized, and the clinical data and pathological features of the patients were analyzed, including the molecular genetic changes, the diagnosis and differential diagnosis of the disease, and the diagnosis and differential diagnosis of the disease in the hospital of Otolaryngology, affiliated to Fudan University. Results all 3 cases were primary DSRCTs of nasal cavity and paranasal sinus, male 1 case, female 2 cases, mean age 43 years old 21 61 years old, maxillary sinus, sphenoid sinus and ethmoid sinus, respectively. The clinical manifestations were nasal congestion, epistaxis, and unobstructed ventilation. The histologic appearance of the tumor was similar to that of the classical DSRCT, and the tumor was composed of small round cells with irregular nuclear staining. Divided by proliferative fibrous connective tissue into nests of different sizes, the cells were poorly differentiated, mitotic images were easily seen and accompanied by varying degrees of necrosis and invasive growth. Some of the tumor cells in our hospital were epithelioid, rhabdomyoid or plasmacytoid. The results of immunohistochemical staining showed that all the tumor cells expressed epithelium, the mesenchymal and neurogenic markers in 3 cases confirmed the existence of EWS-WT1 gene fusion by fish RT-PCR and Southern blot. A large number of dendritic processes and organelles were found in the tumor cells. 3 cases with abundant intermediate filaments around the nucleus were surgically removed and combined with adjuvant radiotherapy and chemotherapy. Two of the cases reported in the literature had a tumor-free survival of more than 2.5 years. One patient recurred 4 months after operation and died one year later. Conclusion DSRCT is a rare and highly malignant tumor, which is more rare in the nasal cavity and paranasal sinus and has a poor prognosis. It is helpful to avoid missed diagnosis and misdiagnosis by fully understanding the pathological characteristics and the rare site of its occurrence.
【作者单位】：复旦大学附属眼耳鼻喉科医院病理科;
【分类号】：R739.62

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