Abstract
The term cystic nephroma has traditionally been used to refer to 2 neoplasms, a lesion in adults that is now thought to be part of the spectrum of mixed epithelial stromal tumor (MEST) and a pediatric lesion that has been associated with mutations in the DICER1 gene. A direct detailed morphologic, immunohistochemical, and genetic comparison of these 2 lesions has not been performed. In this study, we compare the morphologic features, immunoreactivity for estrogen receptor and inhibin, and DICER1 genetic status of 12 adult cystic nephroma/MEST (median age 50.5 y, all females) and 7 pediatric cystic nephroma (median age 1.3 y, male:female=6:1). Both lesions (11 of 12 adult cases, 6 of 7 pediatric cases) frequently demonstrated subepithelial accentuation of stromal cellularity, though the increased cellularity frequently included inflammatory cells in the pediatric cases. All adult and pediatric cases labeled for estrogen receptor; however, whereas most (83%) of adult cases labeled for inhibin at least focally, no pediatric case labeled for inhibin. Most adult cases (58%) demonstrated wavy, ropy collagen in association with cellular stroma, whereas this was not found in pediatric cases. 86% of pediatric cases demonstrated DICER1 mutations, whereas only 1 of 10 adult cases demonstrated a DICER1 mutation. In summary, although cellular stroma and estrogen receptor immunoreactivity are commonly present in both adult and pediatric cystic nephroma, ropy collagen and inhibin immunoreactivity are far more common in adult cystic nephroma/MEST, whereas DICER1 mutations are far more prevalent in pediatric cystic nephroma. These results support the current World Health Organization Classification's separation of adult and pediatric cystic nephromas as distinct entities.
摘要
囊性肾瘤这个术语包括了传统意义上的两种肿瘤,一种是成人囊性肾瘤,目前认为是混合性上皮间质肿瘤(MEST)谱系的一部分;另一种是与DICER1基因突变有关的儿童囊性肾瘤。至今未见有关这两种疾病在形态学、免疫表型和基因学方面的对比研究。
本研究中,我们对比分析12例成人囊性肾瘤/MEST(中位年龄50.5岁,均为女性)和7例儿童囊性肾瘤(中位年龄1.3岁,男女比例6:1)的形态学、免疫表型(ER和inhibin)和分子遗传学特征(DICER1基因状态)。这两种病变(11/12成人病例,6/7儿童病例)常表现为上皮下间质细胞丰富,但儿童病例的间质常见较多炎症细胞。所有成人和儿童囊性肾瘤均表达ER,83%的成人病例至少局灶表达inhibin,儿童病例不表达inhibin。58%的成人病例富于细胞的间质中会出现波浪形、绳索样胶原,儿童病例无此现象。86%的儿童囊性肾瘤存在DICER1基因突变,10例成人囊性肾瘤中仅1例存在DICER1基因突变。
总之,虽然成人囊性肾瘤和儿童囊性肾瘤的间质细胞均丰富且均表达ER,但绳索样胶原和inhibin表达更常见于成人囊性肾瘤/MEST,而儿童囊性肾瘤普遍存在DICER1基因突变。这些研究结果支持当前世界卫生组织分类:成人囊性肾瘤和儿童囊性肾瘤为独立的不同实体。
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