Corless C L, Aburatani H, Fletcher J A, Housman D E, Amin M B, Weinberg D S
Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts, USA.
Diagn Mol Pathol. 1996 Mar;5(1):53-64. doi: 10.1097/00019606-199603000-00009.
Papillary renal cell carcinoma (papillary RCC) is an uncommon histologic variant of RCC with distinct gross, microscopic, and immunohistochemical features. Recent karyotypic analyses suggest that papillary RCC differs from other types of RCC at the genetic level as well. Whereas nonpapillary (clear cell, granular cell) RCC is characterized by deletions in chromosome 3p, papillary tumors reportedly exhibit a pattern of chromosomal trisomies, typically including chromosomes 7 and 17. To further examine the relationship between overrepresentation of these chromosomes and papillary histology, archival material from 36 papillary tumors was subjected to fluorescence in situ hybridization (FISH) analysis using alpha-satellite repeat probes specific to 7 and 17. Excess signals for chromosome 17 were detected in 22 of 28 (78%) low-grade papillary tumors (Fuhrman nuclear grades 1 and 2), and in seven of eight (87%) high-grade tumors (grades 3 and 4). Correlation of chromosome 17 FISH signals with karyotypes performed on two low-grade and three high-grade tumors was excellent. Among the cases without evidence of excess chromosome 17 were three unusual papillary tumors with sclerotic and hyalinized fibrovascular cores. In two cases, comparison was made of FISH signals from multiple, separate gross nodules of tumor; concordance for trisomic 17 signals was observed in one case, but not in the other. Chromosome 7 signals were overrepresented in all seven papillary tumors examined. DNA ploidy was determined in 19 of the 36 tumors; a relationship between DNA ploidy and polysomy 7 or 17 was not apparent. To examine the possible role of chromosome 3p deletions in the development of papillary RCC, 11 cases were studied for loss of heterozygosity (LOH) at one or more loci in the region of 3p13-21. Only three of the 11 cases had LOH at these loci. The findings are discussed with respect to the development and progression of papillary RCC.
乳头状肾细胞癌（papillary RCC）是肾细胞癌（RCC）中一种罕见的组织学变异类型，具有独特的大体、显微镜下及免疫组化特征。近期的核型分析表明，乳头状肾细胞癌在基因水平上也与其他类型的肾细胞癌不同。非乳头状（透明细胞、颗粒细胞）肾细胞癌的特征是3号染色体短臂缺失，而据报道乳头状肿瘤呈现染色体三体模式，通常包括7号和17号染色体。为了进一步研究这些染色体的过度表达与乳头状组织学之间的关系，使用针对7号和17号染色体的α卫星重复探针，对36例乳头状肿瘤的存档材料进行了荧光原位杂交（FISH）分析。在28例低级别乳头状肿瘤（Fuhrman核分级为1级和2级）中的22例（78%）以及8例高级别肿瘤（3级和4级）中的7例（87%）检测到17号染色体信号过量。对2例低级别和3例高级别肿瘤进行的17号染色体FISH信号与核型的相关性非常好。在没有17号染色体过量证据的病例中，有3例不寻常的乳头状肿瘤，其纤维血管核心有硬化和玻璃样变。在2例病例中，对肿瘤多个独立大体结节的FISH信号进行了比较；在1例病例中观察到三体17信号的一致性，但在另一例中未观察到。在所检查的所有7例乳头状肿瘤中，7号染色体信号均过度表达。在36例肿瘤中的19例中确定了DNA倍性；DNA倍性与7号或17号染色体多体性之间没有明显关系。为了研究3号染色体短臂缺失在乳头状肾细胞癌发生中的可能作用，对11例病例在3p13 - 21区域的一个或多个位点进行了杂合性缺失（LOH）研究。在这11例病例中，只有3例在这些位点存在LOH。结合乳头状肾细胞癌的发生和进展对这些发现进行了讨论。
