Department of Oncology, Clinical Sciences, Lund University, BMC C13, 22184 Lund, Sweden.
Breast Cancer Res Treat. 2011 Oct;129(3):747-60. doi: 10.1007/s10549-010-1262-8. Epub 2010 Nov 27.
Male breast cancer (MBC) is extremely rare and poorly characterized on the molecular level. Using high-resolution genomic data, we aimed to characterize MBC by genomic imbalances and to compare it with female breast cancer (FBC), and further to investigate whether the genomic profiles hold any prognostic information. Fifty-six fresh frozen MBC tumors were analyzed using high-resolution tiling BAC arrays. Significant regions in common between cases were assessed using Genomic Identification of Significant Targets in Cancer (GISTIC) analysis. A publicly available genomic data set of 359 FBC tumors was used for reference purposes. The data revealed a broad pattern of aberrations, confirming that MBC is a heterogeneous tumor type. Genomic gains were more common in MBC than in FBC and often involved whole chromosome arms, while losses of genomic material were less frequent. The most common aberrations were similar between the genders, but high-level amplifications were more common in FBC. We identified two genomic subgroups among MBCs; male-complex and male-simple. The male-complex subgroup displayed striking similarities with the previously reported luminal-complex FBC subgroup, while the male-simple subgroup seems to represent a new subgroup of breast cancer occurring only in men. There are many similarities between FBC and MBC with respect to genomic imbalances, but there are also distinct differences as revealed by high-resolution genomic profiling. MBC can be divided into two comprehensive genomic subgroups, which may be of prognostic value. The male-simple subgroup appears notably different from any genomic subgroup so far defined in FBC.
男性乳腺癌（MBC）极为罕见，在分子水平上的特征也很差。我们使用高分辨率基因组数据，旨在通过基因组失衡来描述 MBC，并将其与女性乳腺癌（FBC）进行比较，进一步研究基因组谱是否具有任何预后信息。使用高分辨率平铺 BAC 阵列分析了 56 例新鲜冷冻 MBC 肿瘤。使用癌症基因组鉴定显著目标（GISTIC）分析评估病例之间的显著区域。使用 359 例 FBC 肿瘤的公开基因组数据集作为参考。该数据揭示了广泛的异常模式，证实 MBC 是一种异质性肿瘤类型。MBC 中的基因组增益比 FBC 更为常见，并且经常涉及整个染色体臂，而基因组物质的丢失则较少见。最常见的异常在性别之间相似，但 FBC 中的高水平扩增更为常见。我们在 MBC 中鉴定出两个基因组亚组；男性复杂组和男性简单组。男性复杂亚组与先前报道的腔复杂 FBC 亚组显示出惊人的相似性，而男性简单亚组似乎代表了仅发生在男性中的一种新的乳腺癌亚组。在基因组失衡方面，FBC 和 MBC 之间有许多相似之处，但高分辨率基因组分析也揭示了明显的差异。MBC 可以分为两个综合基因组亚组，这可能具有预后价值。男性简单亚组与迄今为止在 FBC 中定义的任何基因组亚组明显不同。
