Association of chromosome band 8q22 copy number gain with high grade invasive breast carcinomas by assessment of core needle biopsies
Association of chromosome band 8q22 copy number gain with high grade invasive breast carcinomas by assessment of core needle biopsies
复制标题
DOI：
10.1002/gcc.20545
复制
发表时间：
2008-05
期刊：
影响因子：
3.5
通讯作者：
L. Walker;G. Harris;J. Wells;B. Robinson;C. Morris
中科院分区：
文献类型：
--
作者：
L. Walker;G. Harris;J. Wells;B. Robinson;C. Morris
乳腺肿瘤空芯针活检的基因分析可以提供早期诊断信息，这对指导随后的临床治疗是有用的。我们报告中期比较基因组杂交（CGH）分析42个核心针活检前瞻性地从41例浸润性导管乳腺癌的样本，并显示，复发性染色体拷贝数的变化与组织学定义的肿瘤特征。据了解，这是第一次如此详细地报告诊断性乳腺肿瘤芯针活检的CGH谱与病理数据的相关性。1级（n = 7）、2级（n = 16）和3级肿瘤（n = 19）的比较显示，涉及8 q22的染色体拷贝数增加与较高级别（分别为1/7 vs. 16/19）相关，因此改变了细胞分化状态。使用通过荧光原位杂交（FISH）从来自相同样品集（n = 18）的亚组制备的肿瘤触摸印记和从8 p21和8 q22内的感兴趣区域选择的两种探针来验证CGH结果。8 p21和8 q22失衡的CGH和FISH之间的总体一致性分别为9/18（50%）和12/18（67%）。当FISH和CGH数据相结合时，根据34例更好定义的切除肿瘤组织学对肿瘤进行分类，19/19例3级肿瘤显示8 q22增加，而0/6例1级肿瘤和4/9例2级肿瘤显示8 q22增加。需要进一步的综合研究来验证这种关联的生物学意义及其促进乳腺癌早期临床病理评估的潜力。本文包含补充材料，可在http：//www.interscience.wiley.com/jpages/1045 - 2257/suppmat上获得。© 2008 Wiley利斯公司
Genetic analysis of breast tumor core needle biopsies may provide early diagnostic information that is useful to direct subsequent clinical management. We report metaphase comparative genomic hybridization (CGH) analysis of 42 core needle biopsies prospectively sampled from invasive ductal breast carcinomas of 41 patients, and show that recurrent chromosomal copy number changes are associated with histologically defined tumor features. As far as is known, this is the first time CGH profiles from diagnostic breast tumor core needle biopsies have been reported in association with pathological data in such detail. A comparison of Grade 1 (n = 7), Grade 2 (n = 16), and Grade 3 tumors (n = 19) revealed a chromosomal copy number gain involving 8q22 that was associated with higher grade (1/7 vs. 16/19, respectively) and therefore altered cell differentiation status. CGH results were validated using tumor touch imprints prepared from a subgroup from the same sample set (n = 18) by fluorescence in situ hybridization (FISH) and two probes selected from regions of interest within 8p21 and 8q22. Overall concordance between CGH and FISH for 8p21 and 8q22 imbalances was 9/18 (50%) and 12/18 (67%), respectively. When FISH and CGH data were combined, and tumors classified according to better defined resected tumor histology available for 34cases, 19/19 Grade 3 tumors showed 8q22 gain compared with 0/6 Grade 1 tumors and 4/9 Grade 2 tumors. Further comprehensive studies are required to verify the biological significance of this association and its potential to facilitate early clinicopathological assessment of breast cancer. This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045‐2257/suppmat. © 2008 Wiley‐Liss, Inc.