Renshaw A A, Granter S R, Fletcher J A, Kozakewich H P, Corless C L, Perez-Atayde A R
Brigham and Women's Hospital, Harvard University Medical School, Boston, Massachusetts, USA.
Am J Surg Pathol. 1999 Jul;23(7):795-802. doi: 10.1097/00000478-199907000-00007.
Renal cell carcinomas in children and young adults are rare, and the pathologic features of these tumors have not been well described. We reviewed 24 renal cell carcinomas in children and young adults ages 6 to 29 years, 14 of whom were younger than 18 years of age. Fourteen were female. In 19 (79%) of 24 cases, the tumor met histologic criteria for papillary renal cell carcinoma, with at least 50% papillary architecture. Four of the remaining five cases were typical clear cell tumors in patients known to have von Hippel Lindau syndrome, and one case was of chromophobe type. In the papillary tumors, calcifications, high nuclear grade, extracapsular extension (American Joint Commission on Cancer stage T3), and lymph node metastases were common. Among these papillary tumors, four distinct histologic patterns could be identified. Collecting duct-like tumors (two cases) involved the large collecting ducts, were multifocal and predominantly papillary, and had focal tubular and solid areas. These tumors were reactive for epithelial membrane antigen (EMA) and keratins, including CK7, but negative for Ulex europeaus and high molecular weight keratin 34BE12. Voluminous cell tumors (four cases) were composed of cells with extremely voluminous clear cytoplasm and, although predominantly papillary, had areas that also resembled clear cell tumors. These tumors were reactive for keratins AE1/AE3 but were otherwise negative for all other keratins, EMA, and U. europeaus. One of these tumors showed an X;7 translocation. Adult type tumors (12 cases) resembled papillary tumors of adults. These tumors were reactive for EMA and keratins, including CK7, and all but one were negative for U. europeaus and keratin 34BE12. This last case had trisomies of chromosomes 7, 16, 17, and 20. The final neuroendocrinelike case was multifocal, organoid, and composed of nests of small cells in a neuroendocrinelike pattern. Three of 13 patients were alive with disease at last follow-up, and three additional patients died of disease, all within 2 years. Progression was highly associated with lymph node involvement at the time of resection. We conclude that the clinicopathologic features of renal cell carcinomas in children and young adults differ from those arising in older adults. These tumors are characteristically high-grade, high-stage, papillary tumors with numerous calcifications, and several subtypes can be identified based on histologic, immunohistochemical, and cytogenetic features. Some subtypes appear to be unique to this age group.
儿童和年轻成人的肾细胞癌较为罕见，这些肿瘤的病理特征尚未得到充分描述。我们回顾了24例年龄在6至29岁的儿童和年轻成人的肾细胞癌，其中14例年龄小于18岁。14例为女性。在24例病例中的19例（79%）中，肿瘤符合乳头状肾细胞癌的组织学标准，乳头状结构至少占50%。其余5例中的4例是已知患有冯·希佩尔-林道综合征患者的典型透明细胞肿瘤，1例为嫌色细胞型。在乳头状肿瘤中，钙化、高核分级、包膜外扩展（美国癌症联合委员会分期T3）和淋巴结转移很常见。在这些乳头状肿瘤中，可以识别出四种不同的组织学模式。集合管样肿瘤（2例）累及大集合管，多灶性且主要为乳头状，有局灶性管状和实性区域。这些肿瘤上皮膜抗原（EMA）和角蛋白呈阳性，包括CK7，但荆豆凝集素和高分子量角蛋白34BE12呈阴性。巨细胞肿瘤（4例）由具有极大量透明细胞质的细胞组成，虽然主要为乳头状，但也有类似透明细胞肿瘤的区域。这些肿瘤角蛋白AE1/AE3呈阳性，但所有其他角蛋白、EMA和荆豆凝集素均呈阴性。其中1例肿瘤显示X;7易位。成人型肿瘤（12例）类似于成人的乳头状肿瘤。这些肿瘤EMA和角蛋白呈阳性，包括CK7，除1例荆豆凝集素和角蛋白34BE12呈阳性外，其余均呈阴性。最后1例病例有7号、16号、17号和20号染色体三体。最后1例神经内分泌样病例多灶性、类器官样，由呈神经内分泌样模式的小细胞巢组成。13例患者中有3例在最后一次随访时仍有疾病存活，另有3例患者死于疾病，均在2年内。进展与切除时的淋巴结受累高度相关。我们得出结论，儿童和年轻成人肾细胞癌的临床病理特征与老年成人的不同。这些肿瘤的特征是高级别、高分期、乳头状肿瘤，有大量钙化，根据组织学、免疫组化和细胞遗传学特征可识别出几种亚型。一些亚型似乎是该年龄组特有的。
