Clinicopathological characteristics of seven cases of atypical neurofibromatous neoplasm of uncertain biologic potential
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摘要:
目的 探讨生物潜能未定非典型神经纤维瘤(atypical neurofibromatous neoplasm of uncertain biologic potential,ANNUBP)的临床病理特征、免疫表型、分子遗传学改变。 方法 分析2014年12月至2020年8月收集于北京大学国际医院病理诊断为非典型或富于细胞性神经纤维瘤14例患者的临床资料,其中7例具有ANNUBP的特征,光镜观察肿瘤细胞形态、免疫表型特征、并进行总结。 结果 ANNUBP中男性5例,女性2例,年龄14~44岁(平均年龄27岁,中位年龄27岁);6例位于腹膜后,1例位于头颈部,最大径4.5~21.5 cm,平均11.0 cm,界限较清。镜下肿瘤细胞可见细胞异型性、丰富密集、失去神经纤维瘤结构和/或核分裂像增加(>1/50 HPF和<3/10 HPF);其中4例多次复发,2例进展为恶性外周神经鞘膜瘤(malignant peripheral nerve sheath tumor,MPNST),1例无瘤生存,复发率85.71%(6/7),恶变率28.57%(2/7);S-100、SOX-10、H3K27Me3在7例中均弥漫强表达,1例CD34染色显示网状结构消失,Ki-67增殖指数<2%~5%。 结论 ANNUBP是具有较高复发率和恶变率的肿瘤,术后应结予相应的辅助治疗,并密切随访,同时也应避免过度治疗;结合免疫组织化学,有助于其诊断和鉴别诊断。 -
关键词:
- 生物潜能未定非典型神经纤维瘤 /
- 复发 /
- 恶性外周神经鞘膜瘤
Abstract:Objective To investigate the clinicopathological characteristics, immunophenotypes, and molecular genetic changes in atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP). Methods Fourteen cases of atypical or hypercellularity neurofibroma were collected from surgical specimens at the Pathology Department of Peking University International Hospital from December 2014 to August 2020. Seven cases had characteristics of ANNUBP. Microscopy, immunophenotype analysis, and summary were performed. Results There were five males and two females, with ages ranging 14-44 years (average and median ages were 27 and 27 years, respectively); six had ANNUBP located in the retroperitoneum, whereas one was located in the head and neck. The maximum diameter ranged from 4.5 to 21.5 cm, the mean diameter was 11 cm, and the boundary was clear. Seven cases showed nuclear atypia, hypercellularity, loss of neurofibroma architecture, and increased mitotic image (>1/50 and<3/10 HPF). Four cases recurred multiple times, two patients developed malignant peripheral nerve sheath tumor (MPNST), and one patient survived without tumor. The recurrence rate was 85.71% (6/7) and the malignant transformation rate was 28.57% (2/7). S-100, Sox-10, and H3K27Me3 were all diffused and strongly expressed in seven cases. CD34 showed the disappearance of reticular structure in one case, and the Ki-67 proliferation index was less than 2%-5%. Conclusions ANNUBP is a tumor with high recurrence and malignant transformation rates. Postoperative adjuvant therapy and close follow-up combined with immunohistochemistry should be provided, and overtreatment should be avoided, thus aiding its diagnosis. -
表 1 ANNUBP的临床病理特征
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