Shi Shan-Shan, Shen Qin, Xia Qiu-Yuan, Tu Pin, Shi Qun-Li, Zhou Xiao-Jun, Rao Qiu
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
Int J Clin Exp Pathol. 2013 Nov 15;6(12):2936-42. eCollection 2013.
Clear cell papillary renal cell carcinoma (CCPRCC) is a recently recognized renal neoplasm, which was initially described in end-stage renal disease (ESRD), but some cases have been reported in otherwise normal kidneys. We report a series of 11 CCPRCC (age range, 33-72 years; male-to-female ratio, 8:3). Follow-up was available for 8 patients. No patients developed local recurrence, distant or lymph-node metastasis, or cancer death. Histologically, all tumors exhibit morphologic features typical of CCPRCC including a mixture of cystic and papillary components, covered by small to medium-sized cuboidal cells with abundant clear cytoplasm. All 11 cases exhibited moderate to strong positivity for CK7, CA9, Vim, and HIF-1α, coupled with negative reactions for CD10, P504S, and RCC. We did not find any VHL gene mutations in all 11 cases. Losses of chromosomes 3 (monoploid chromosome 3) was detected in 3 cases. Ultrastructurally, the tumor cells composed of numerous glycogens with scanty cell organelles, reminiscent of clear cell renal cell carcinoma (CCRCC). In conclusion, the coexpression of CA9 and HIF-1α in the absence of VHL gene abnormalities in CCPRCC suggests activation of the HIF pathway by mechanisms independent of VHL gene mutation. Losses of chromosomes 3 (monosomies chromosome 3) was detected in 3 cases suggesting that at least some of these lesions have demonstrated abnormalities of chromosomes 3. Ultrastructurally, CCPRCC composed of numerous glycogens with scanty cell organelles, reminiscent of CCRCC suggesting the close pathogenesis relationship of CCPRCC with CCRCC.
透明细胞乳头状肾细胞癌（CCPRCC）是一种最近才被认识的肾脏肿瘤，最初在终末期肾病（ESRD）中被描述，但也有一些病例报道于其他方面正常的肾脏。我们报告了一组11例CCPRCC（年龄范围33 - 72岁；男女比例8:3）。8例患者有随访资料。无患者发生局部复发、远处或淋巴结转移或癌症死亡。组织学上，所有肿瘤均表现出CCPRCC典型的形态学特征，包括囊性和乳头状成分的混合，被具有丰富透明细胞质的中小立方形细胞覆盖。所有11例病例CK7、CA9、波形蛋白（Vim）和低氧诱导因子-1α（HIF-1α）呈中度至强阳性，而CD10、P504S和肾细胞癌（RCC）呈阴性反应。我们在所有11例病例中均未发现任何VHL基因突变。3例检测到3号染色体缺失（单倍体3号染色体）。超微结构上，肿瘤细胞由大量糖原和少量细胞器组成，类似于透明细胞肾细胞癌（CCRCC）。总之，CCPRCC中在无VHL基因异常情况下CA9和HIF-1α的共表达提示HIF途径通过独立于VHL基因突变的机制被激活。3例检测到3号染色体缺失（3号染色体单体），提示至少其中一些病变存在3号染色体异常。超微结构上，CCPRCC由大量糖原和少量细胞器组成，类似于CCRCC，提示CCPRCC与CCRCC有密切的发病机制关系。
