METHODS: A 55-year-old postmenopausal woman presented with abnormal vagina discharge for 3 months. A liquid-based cytology test was performed. Microscopically, some loosely cohesive epithelioid cells were uniform with abundant clear cytoplasm, showing predominantly round or oval nuclei with finely stippled chromatin. Distinct round nucleoli were visible in some cells, notably with numerous melanin pigments in the cytoplasm. The cytopathological features were well correlated with cell block and histopathological findings. Upon immunohistochemistry (IHC), the tumor cells were positive for HMB45 and TFE3, focally positive for MelanA, while negative for muscle marker. Fluorescence in situ hybridization (FISH) confirmed TFE3 gene rearrangement. The final pathological diagnosis was PEComa identified by the liquid-based cytology, cell block, cervical biopsy, IHC and FISH result. The patient underwent a total hysterectomy with bilateral salpingo-oophorectomy and was followed up for 2 years with no evidence of disease.
CONCLUSIONS: The cytologic characteristics of the tumor can provide sufficient clues for PEComa diagnosis, which includes loosely cohesive, epithelioid morphology with abundant clear or eosinophilic cytoplasm, low-grade nuclear atypia, cytoplasmic melanin pigments. This will help cytopathologists to recognize this rare tumor that occurred in the cervix, and the combination of predictive morphology evaluation, immunophenotype, and molecular testing can achieve the definitive diagnosis of PEComa.
方法:一名55岁的绝经后妇女出现3个月的阴道异常放电。进行液基细胞学检查。微观上,一些松散粘性的上皮样细胞均匀,细胞质丰富清晰,主要显示圆形或椭圆形核,染色质细密。在一些细胞中可见明显的圆形核仁,特别是细胞质中有许多黑色素。细胞病理学特征与细胞块和组织病理学发现密切相关。免疫组织化学(IHC),肿瘤细胞HMB45和TFE3阳性,黑色素瘤局部阳性,而肌肉标记为阴性。荧光原位杂交(FISH)证实TFE3基因重排。最终的病理诊断是通过液基细胞学鉴定的PEComa,细胞块,宫颈活检,IHC和FISH结果。该患者接受了全子宫切除术和双侧附件卵巢切除术,并随访了2年,没有疾病的证据。
结论:肿瘤的细胞学特征可以为PEComa的诊断提供足够的线索,其中包括松散的凝聚力,上皮样形态有丰富的透明或嗜酸性细胞质,低级核非典型性,细胞质黑色素。这将有助于细胞病理学家认识到这种罕见的宫颈肿瘤,和预测形态学评估的组合,免疫表型,分子检测可以实现PEComa的明确诊断。