Golimbu M, Dalbagni G, Provet J, Comiter S, Morales P
New York University School of Medicine, New York.
Urology. 1994 Jan;43(1):26-30. doi: 10.1016/s0090-4295(94)80256-4.
This study investigates the relationship between clonal chromosomal abnormalities detected in nonfamilial renal cell carcinoma and the clinical outcome, specifically, whether or not patients whose tumors had karyotypic changes have a different prognosis than those whose tumors did not.
Fresh tumor tissue obtained from 32 cases was grown in tissue culture. Twenty four grew successfully and were harvested and multiple cells of each karyotyped. Clinical follow-up was obtained for at least five years or until the time of death.
Fourteen of 24 cases demonstrated karyotypic abnormalities including loss of Y chromosome (64%), trisomy 7 (50%), trisomy 12 (14%), trisomy 9, 10, 14, 15, 16, and 17, monosomy 9 and 20, and long-arm deletion of chromosome 16 (1 case each). Tumors were well-differentiated in 16 cases, moderately differentiated in 5 cases, and poorly differentiated in 1 case; 13 cases were pathologic Stage I, 5 Stage II, and 6 Stage III. Thirty-three percent of the patients demonstrated clinical progression.
No significant difference in prognosis could be found between patients with and without karyotypic abnormalities. The only clinical or pathologic difference which could be established was sex distribution. Significantly greater numbers of males had karyotypic abnormalities than females, but this could be explained by the high number of Y chromosome deletions that were detected. The lack of correlation between karyotypic abnormalities and clinical outcome may reflect a confounding factor in genetic evolution such that clinically determining chromosomal changes present early in a tumor's growth in vivo may no longer be present when the tumor is diagnosed, treated, or after it is grown in culture. This may make demonstration of such clinically significant chromosomal changes very difficult.
本研究调查在非家族性肾细胞癌中检测到的克隆性染色体异常与临床结果之间的关系，具体而言，肿瘤发生核型改变的患者与肿瘤未发生核型改变的患者预后是否不同。
从32例患者获取的新鲜肿瘤组织在组织培养中生长。24例成功生长，收获后对每个核型的多个细胞进行分析。获得至少五年的临床随访或直至死亡时间。
24例中的14例显示核型异常，包括Y染色体缺失（64%）、三体7（50%）、三体12（14%）、三体9、10、14、15、16和17、单体9和20以及染色体16长臂缺失（各1例）。16例肿瘤为高分化，5例为中分化，1例为低分化；13例为病理I期，5例为II期，6例为III期。33%的患者出现临床进展。
有核型异常和无核型异常的患者在预后方面未发现显著差异。能够确定的唯一临床或病理差异是性别分布。有核型异常的男性数量显著多于女性，但这可以通过检测到的Y染色体缺失数量较多来解释。核型异常与临床结果之间缺乏相关性可能反映了遗传进化中的一个混杂因素，即当肿瘤在体内生长早期临床上确定的染色体变化在肿瘤被诊断、治疗或在培养中生长后可能不再存在。这可能使得证明这种具有临床意义的染色体变化非常困难。
