Gallucci Michele, Vico Erika, Sentinelli Steno, Leonardo Costantino, Visca Paulo, Orlandi Giulia, Cianciulli AnnaMaria
Department of Urology, Regina Elena Cancer Institute, Rome, Italy.
Urol Oncol. 2008 May-Jun;26(3):295-8. doi: 10.1016/j.urolonc.2007.01.025. Epub 2008 Feb 20.
Renal tumor subtypes are associated with distinct, recurring cytogenetic abnormalities and hereditary cancer syndromes. In papillary renal carcinoma, trisomy 7 and 17 and loss of the Y chromosome are the most common chromosomal defects.
The present paper analyzes the chromosomes 7, 17, and Y alterations found in familial papillary carcinoma and in the normal tissue of two brothers. The evaluation, performed by fluorescence in situ hybridization (FISH) and cytogenetic conventional methods, was carried out on blood samples, normal kidney tissue, and tumor samples of the two brothers. Patient 1 showed gains of chromosomes 7 and 17 both in normal and tumor tissue. Chromosome Y status was normal. Patient 2 showed chromosome 7 and 17 gains, chromosome Y loss in tumor and chromosome 17 and Y alterations in normal kidney tissue. The constitutional karyotype was normal in both brothers.
Of particular relevance were the chromosome aberrations found in normal kidney parenchyma. In fact, the progressive alterations of 7, 17, and Y chromosomes could provide evidence of early genetic instability of tissue and may even precede the development of macroscopically identifiable lesions.
肾肿瘤亚型与独特的、反复出现的细胞遗传学异常和遗传性癌症综合征相关。在乳头状肾细胞癌中，7号和17号染色体三体以及Y染色体缺失是最常见的染色体缺陷。
本文分析了在家族性乳头状癌以及两兄弟正常组织中发现的7号、17号和Y染色体改变。通过荧光原位杂交（FISH）和细胞遗传学常规方法，对两兄弟的血液样本、正常肾组织和肿瘤样本进行了评估。患者1在正常组织和肿瘤组织中均显示7号和17号染色体增加。Y染色体状态正常。患者2显示7号和17号染色体增加，肿瘤中Y染色体缺失，正常肾组织中有17号和Y染色体改变。两兄弟的染色体核型均正常。
特别值得关注的是在正常肾实质中发现的染色体畸变。事实上，7号、17号和Y染色体的渐进性改变可能为组织早期遗传不稳定性提供证据，甚至可能先于宏观上可识别病变的发展。
