先天性中胚层肾瘤临床病理和分子遗传学分析

发布时间：2018-05-13 09:16

本文选题：肾肿瘤 + 先天性中胚层肾瘤　；参考：《临床与实验病理学杂志》2017年06期

【摘要】：目的探讨先天性中胚层肾瘤(congenital mesoblastic nephroma,CMN)的临床病理特征和分子遗传学改变。方法回顾性分析9例CMN,总结其组织病理形态、免疫组化标记及ETV6基因易位FISH检测结果。结果 9例CMN均为2岁以内的患儿,其中8例小于1岁。肿瘤平均直径9.5 cm(3.2~15.0 cm)。经典型3例,细胞型5例,混合型1例;其中5例可见囊性变,2例可见软骨岛。与经典型相比,细胞型CMN的肿瘤直径常更大,易出现出血、坏死,核分裂象更多见。免疫表型:肿瘤细胞表达vimentin,余未见特异性阳性标记,且均不表达WT-1。其中5例(4例细胞型和1例混合型)行ETV6基因易位FISH检测,3例细胞型CMN检出ETV6基因易位,1例细胞型和1例混合型CMN未检出ETV6基因易位。2例失访,7例随访5~46个月,均未见复发。结论 CMN为少见的婴幼儿肾脏肿瘤,具有独特的临床病理学特征,细胞型CMN有特异的ETV6基因易位。CMN多预后良好,需与其它儿童肾恶性肿瘤鉴别。
[Abstract]:Objective to investigate the clinicopathological features and molecular genetic changes of congenital mesodermal nephroma (CMN). Methods the histopathology, immunohistochemical staining and ETV6 gene translocation FISH were analyzed retrospectively in 9 cases of CMNs. Results all 9 cases of CMN were younger than 2 years old, 8 of them were less than 1 year old. The mean diameter of tumor was 9.5 cm(3.2~15.0 / cm ~ (-1). There were 3 cases of classical type, 5 cases of cellular type and 1 case of mixed type, of which 5 cases had cystic degeneration and 2 cases had cartilage island. Compared with the classical type, the tumor diameter of cellular CMN is much larger, it is prone to hemorrhage, necrosis and mitotic appearance. Immunophenotype: tumor cells expressed vimentin, but no specific positive markers were found, and none of them expressed WT-1. The ETV6 gene translocation FISH was detected in 5 cases (4 cell type and 1 mixed type). ETV6 gene translocation was detected in 3 cases of cellular CMN and 1 case of mixed type CMN without ETV6 gene translocation. All cases were followed up for 5 ~ 46 months and no recurrence was found. Conclusion CMN is a rare renal tumor in infants with unique clinicopathological features. Cellular CMN has a good prognosis with specific ETV6 gene translocation. It needs to be differentiated from other renal malignancies in children.
【作者单位】：四川大学华西医院病理科;
【基金】：国家自然科学基金(81272820、81272848、81572540)
【分类号】：R737.11

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