脂肪纤维瘤样神经肿瘤临床病理及分子遗传学特征

Clinicopathological and molecular genetic features of lipofibromatosis-like neural tumor

目的探讨脂肪纤维瘤样神经肿瘤(lipofibromatosis-like neural tumor,LPF-NT)临床病理及分子遗传学特征。方法收集复旦大学附属儿科医院2018年12月至2019年12月诊断的3例LPF-NT,对其临床、影像学、组织学、免疫组织化学、分子遗传学特征及预后进行分析。结果患儿男性1例,女性2例,发病年龄均小于1岁。LPF-NT临床上多表现为皮下局部侵袭性生长的肿块,影像学检查不具有特异性;组织学检查示梭形肿瘤细胞呈条束状增生,向皮下脂肪组织及真皮层内浸润性生长,细胞核轻到中度异型性,核仁不明显,核分裂象偶见;免疫组织化学示肿瘤细胞CD34和S-100蛋白双表达,NTRK1和panTRK弥漫阳性;荧光原位杂交均可检测到NTRK1基因重排。结论LPF-NT是一种罕见的软组织肿瘤新类型,组织学形态有脂肪纤维瘤病特征,免疫组织化学CD34和S-100蛋白双表达,NTRK1基因断裂重排检测有助于LPF-NT的诊断和鉴别诊断。

Objective To investigate the clinicopathological and molecular genetic features of lipofibromatosis-like neural tumor(LPF-NT).Methods Three cases of LPF-NT in Children′s Hospital of Fudan University from December 2018 to December 2019 were analyzed for their diagnosis and differential diagnosis.Results One case was male and two cases were females,all of them aged under 1 years old.The clinical manifestation of LPF-NT was a local infiltrative growth mass in subcutaneous tissue.There were no specific radiologic features.Histologically,dense fascicles or compact sheets of spindle cells showed infiltration into subcutaneous adipose tissue.Spindle cells displayed a moderate degree of nuclear atypia with mitotic activity cells.Immunohistochemical study showed the tumor cells diffusely expressed S-100 protein,CD34,NTRKI,and pan-TRK.Fluorescence in situ hybridization detected rearrangement of NTRK1 gene in all 3 cases tested.Conclusions LPF-NT is a newly named soft tissue tumor.Histological morphology,immunohistochemistry and molecular detection are helpful for the diagnosis and differential diagnosis of the disease.