摘要
采用光镜及免疫组织化学等方法对1例腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)进行临床及病理回顾性分析并综合文献复习。该例患者因右臀部肿物14年入院,CT提示右侧臀大肌内见卵圆形稍低密度肿物,肿物质软,切面呈实性,直径约5 cm。光镜下可见特征性腺泡状结构形成,肿瘤细胞体积大,细胞质丰富,可见嗜酸性细胞质,核内核仁明显可见。部分区域可见血管内瘤栓形成。免疫组织化学结果示该例肿瘤细胞转录因子E3(transcription factor E3,TFE3),神经元特异性烯醇化酶(neuron-specific enolase,NSE)阳性;肌调节蛋白(MyoD1),肌细胞生成素(Myogenin)细胞质阳性;CD31,平滑肌肌动蛋白(smooth muscle actin,SMA)在肿瘤细胞中阴性,但在腺泡状结构间的血管壁为阳性;结蛋白(Desmin)阴性,Ki-67增殖指数<20%。酶消化后PAS染色示:细胞质内可见嗜伊红色细颗粒状及红染的棒状结晶,此为ASPS的特征性改变。半定量RTPCR结果示:该例肿瘤表达A SPL-TFE3 1型融合基因mRNA。ASPS多见于青少年和青年,但多数患者早期出现血道转移,最终预后欠佳。结合临床和病理学特征及基因诊断,可作出正确的病理诊断。本例患者于手术切除后2年出现肺多发转移灶及髂骨转移病灶,后行帕左帕尼(小分子抗血管生成靶向药)治疗后,肿物明显缩小。目前病情趋于稳定,但该肿瘤临床生物学行为难以确定,需对患者进行长期随访。
The clinical characteristics and the microscopic and immunohistochemical characteristics of 1 case with alveolar soft part sarcoma（ASPS） were analyzed with a follow-up period and related literature was reviewed. The patient was admitted to the hospital with a right hip mass for 14 years. CT showed that an oval mass with slightly low density was in the right gluteus maximus. The mass was soft and the cut surface was solid. The tumor cells were large in size and had abundant cytoplasm, and nucleus was visible. The results of immunohistochemistry showed that tumor cells were positive for MyoD1, Myogenin, NSE, TFE3, and were negative for Desmin, CD31 and SMA with Ki-67 proliferation index less than 20%. But the vessel wall around the tumor cell clusters is positive for CD31 and SMA. PAS staining showed eosinophilic granules and crystals in the cytoplasm of tumor cells. This case expressed ASPL-TFE3 type 1 fusion gene mRNA by RT-PCR. ASPS mostly occurs in adolescents and young people, but most patients have early hematogenous metastasis, the final prognosis is poor. Combined with clinicopathological features and genetic diagnosis, we can make the correct pathological diagnosis of this disease. In this patient, multiple metastatic lesions of the lung and metastasis of the iliac bone occurred two years after surgical resection, and after the treatment with pazulopani（small molecule anti-angiogenic targeted drug）, the tumor was significantly reduced. At present, the condition tends to be stable, but the clinical biological behavior of the tumor is difficult to determine and long-term follow-up of the patient is required.
作者
韩希然
徐晓艳
HAN Xiran;XU Xiaoyan(Department of Pathology,Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010059;Pathology Teaching and Research Office,Inner Mongolia Medical University,Hohhot 010059,China)
出处
《临床与病理杂志》
2018年第8期1795-1801,共7页
Journal of Clinical and Pathological Research
基金
国家自然科学基金(81660393)~~
关键词
腺泡状软组织肉瘤
临床病理特征
免疫组织化学
alveolar soft part sarcoma
clinicopathological features
immunohistochemistry
