摘要目的 探讨黏液性脂肪母细胞瘤的临床病理学特征、诊断及鉴别诊断.方法 收集2010至2017年南京医科大学附属无锡人民医院、徐州医科大学附属医院、江苏省盐城市滨海县人民医院的4例黏液性脂肪母细胞瘤,观察其临床特征、形态学特点及免疫表型,均行全面的荧光原位杂交(FISH)检测,并复习相关文献.结果 4例患者年龄1~6岁,肿瘤均有菲薄纤维包膜,分叶状结构,其内为弥漫的黏液样基质、丰富的纤细丛状血管及原始的星状或梭形间叶细胞.可见S?100蛋白阳性的单泡或多泡状脂肪母细胞,偶见成熟脂肪细胞.FISH检测示4例均有PLAG1基因断裂重排,无CHOP基因断裂及MDM2基因扩增.术后随访12~80个月,均无复发.结论 黏液性脂肪母细胞瘤罕见,主要发生于5岁以下的婴幼儿.临床特征与脂肪母细胞瘤相似,但镜下显著的黏液样基质,丰富的纤细丛状血管,罕见或缺乏成熟脂肪细胞.找到S?100蛋白阳性的单泡或多泡状脂肪母细胞、PLAG1基因断裂重排、无CHOP基因断裂及MDM2基因扩增,是诊断和鉴别诊断的关键.

abstractsObjective To study clinicopathological features,diagnosis and differential diagnosis of myxoid lipoblastoma. Methods Four cases of myxoid lipoblastoma,from 2010 to 2017 at Wuxi People′s Hospital of Nanjing Medical University, the Affiliated Hospital of Xuzhou Medical University and Binhai People′s Hospital, were studied by clinicopathological analysis, immunohistochemistry and in situ hybridization along with a literature review. Results The age of the patients ranged from 1 to 6 years. Histologically, all tumors had thin fibrous capsule and irregular lobules separated by fibrous septa. The individual lobules consisted of myxoid stroma,prominent plexiform capillary network and stellate or spindle mesenchymal cells. Lipoblasts (S?100 positive) and mature adipocytes varies among different lobules. FISH revealed PLAG1 disruption in all 4 cases. MDM2 or CHOP alterations were not detected. None of the patients had tumor recurrence upon follow up from 12 to 80 months. Conclusions Myxoid lipoblastoma is a very rare tumor, usually in the first 5 years of life. The clinical features of myxoid lipoblastoma and lipoblastoma are similar, while myxoid lipoblastoma has prominent myxoid change, a plexiform vascular pattern and rare mature fat cells. The patient age,S?100 positive lipoblasts and cytogenetic alteration are the key diagnostic features.