目的 分析生物学潜能未定的非典型性神经纤维瘤样肿瘤（ANNUBP）患者的临床病理特征,以提高对该病的诊断水平。方法 观察1例ANNUBP患者的临床表现、影像学特点,分析手术标本病理形态特征及免疫组织化学表型,并结合文献进行探讨。结果 患者为中年女性,发现右臀部肿块1年余;MRI检查可见团片状异常信号影,T1WI呈低信号,T2WI抑脂呈高信号,病灶范围约10.2 cm×7.8 cm×7.2 cm;镜下瘤细胞有异型性,细胞密度明显增加,失去神经纤维瘤结构特点,可见核分裂象;免疫组织化学染色显示瘤细胞S-100、SOX10、H3K27me阳性染色,P16少量阳性。结论 ANNUBP是一种恶性前驱病变或恶性病变的早期改变,进展为恶性的风险明显增加;有些部位不易被手术彻底切除,可发生局部复发,但不转移。

Objective To investigate the clinicopathologic characteristics of atypical neurofibromatous neoplasm of uncertain biologic potential （ANNUBP） for improving the diagnosis of the disease. Methods One case of ANNUBP was observed and studied for its clinical symptoms, imaging features, pathological characteristics and immunohistochemical phenotypes of surgical specimens, and also relevant literature was reviewed. Results The middle-aged female patient was found a mass on her right hip more than 1 year ago; MRI examination showed that there were patchy abnormal signal shadows, low signal on T1WI, and high signal on T2WI. The lesion area was about 10.2 cm×7.8 cm×7.2 cm. Microscopically, the tumor cells showed atypially and the cell density increased significantly, with the absence of structural characteristics of neurofibroma and visible mitosis. Immunohistochemistry showed positive staining of S-100, SOX10, H3K27me, and a small amount positive of P16. Conclusion ANNUBP is a kind of malignant precursors or early changes of malignant lesions, and the risk of progressing to malignancy increases obviously. Some parts of the lesions are not easy to be completely removed and local recurrence may occur but not metastasis.