Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
Department of Pathology, Zhejiang Provincial People's Hospital, Hangzhou, China.
Pathology. 2018 Aug;50(5):519-523. doi: 10.1016/j.pathol.2018.03.007. Epub 2018 Jun 27.
We present our experience with ten cases of lipofibromatosis-like tumour (LPF-NT) to further characterise this newly described neoplasm. There were six males and four females with a mean age of 12.8 years (range 2-37 years). Tumours occurred in the neck (n = 3), buttock (n = 2), chest wall, flank, hip, hand and foot (n = 1). Histologically, they were composed of cellular fascicles of mildly to moderately atypical spindle cells displaying an infiltrative pattern reminiscent of lipofibromatosis or dermatofibrosarcoma protuberans. Immunohistochemically, all cases co-expressed S100 protein and CD34. FISH analysis revealed NTRK1 gene rearrangement in four of five cases tested. Clinical follow-up showed local recurrence in three cases but no evidence of metastasis. This study further supports that LPF-NT represents a novel entity of NTRK1-associated neoplasms. Awareness of its clinicopathological features, immunophenotypes and cytogenetic abnormalities helps pathologists arrive at the correct diagnosis.
我们介绍了 10 例脂肪纤维瘤病样肿瘤（LPF-NT）的经验，以进一步描述这种新描述的肿瘤。其中男性 6 例，女性 4 例，平均年龄 12.8 岁（范围 2-37 岁）。肿瘤发生于颈部（n=3）、臀部（n=2）、胸壁、侧腹、臀部、手部和足部（n=1）。组织学上，它们由轻度至中度非典型梭形细胞组成，呈细胞束状，表现出浸润性模式，类似于脂肪纤维瘤病或隆突性皮肤纤维肉瘤。免疫组化染色显示，所有病例均共同表达 S100 蛋白和 CD34。荧光原位杂交分析显示，在 5 例检测的病例中，有 4 例存在 NTRK1 基因重排。临床随访显示 3 例局部复发，但无转移证据。本研究进一步支持 LPF-NT 是一种新型的 NTRK1 相关肿瘤。了解其临床病理特征、免疫表型和细胞遗传学异常有助于病理学家做出正确诊断。
