脂肪纤维瘤病样神经肿瘤临床病理观察

Lipofibromatosis-like neural tumor: a clinicopathologic analysis

目的探讨脂肪纤维瘤病样神经肿瘤(LPF-NT)的临床病理特征、分子遗传学、诊断及鉴别诊断。方法研究本院诊断的1例LPF-NT的临床特征、病理形态学特征、免疫组化以及分子遗传学改变,并检索国内外文献,进行回顾性分析。结果共收集到22例,其中,男性12例,女性10例;发生年龄1～38岁;发生部位较广泛,包括上肢、下肢、头颈部和躯干等;肿瘤最大径1～5.4 cm。其中14例有随访记录,随访时间1～85个月,切缘阴性及再次手术后切缘阴性的病例均无复发及转移。镜下梭形肿瘤细胞呈束状、条索状排列,浸润皮下脂肪组织。免疫组化:肿瘤细胞S-100(21/22)和CD34(13/14)呈双表达,NTRK1(11/12)和pan-TRK(5/5)弥漫(+)。分子检测大多数病例存在NTRK1基因重排(13/17)。结论 LPF-NT为新近命名的一类肿瘤,目前国内外文献报道很少。组织学形态、免疫组化以及分子检测有助于该肿瘤的诊断及鉴别诊断。

Objective To investigate the clinical and pathological features,genetic cause,diagnosis and differential diagnosis of Lipofibromatosis-like neural tumor.Methods The clinical features,pathological morphological features,immunohistochemical expression and molecular genetic changes were analyzed in a case of Lipofibromatosis-like neural tumor diagnosed in our hospital and the literatures about Lipofibromatosis-like neural tumor at home and abroad were searched,analyzed retrospectively.Results There were 22 cases,including 12 males and 10 females.The age range of occurrence was 1~38 years old.Occurrence sites were more extensive,including upper limb,lower limb,head neck and trunk to wait.The maximum diameter of the tumor was about 1~5.4 cm.Follow-up records were obtained in 14 cases.The follow-up time was 1~85 months.No recurrence or metastasis was found in cases with negative incisal margin or negative after reoperation.Microscopic histological features showed that spindle shaped tumor cells were arranged in bundles or bands,infiltrating subcutaneous adipose tissue and interspersing between fat cells.Immunohis tochemistry showed that tumor cells were positive for S-100(21/22),CD34(13/14),NTRK1(11/12),and pan-trk(5/5).Molecular detection showed NTRK1 gene rearrangement in most cases(13/17).Conclutions Lipofibromatosis-like neural tumor is a newly named tumor,but there are few domestic and foreign literature reports.Histological morphology,immunohistochemistry and molecular detection are helpful for the diagnosis and differential diagnosis of the disease.