Luqmani Yunus A, Temmim Labiba L, Mathew Manoj
Kuwait University, Faculty of Pharmacy, Safat 13110, Kuwait.
Oncol Rep. 2002 Mar-Apr;9(2):417-21.
Male breast cancer is a relatively rare disease that represents about 1% of all male malignancies. Its genetic basis has received little attention. Allelic imbalance, reflected by change in microsatellite repeat number (MSI) or loss of heterozygosity (LOH), is thought to play an important role in carcinogenesis. In this study we have examined DNA extracted from paraffin tissue from 15 patients treated for male breast cancer, for evidence of such abnormalities, at 20 different loci across the genome. Polymerase chain reaction amplified products of normal and tumor DNA pairs were compared by electrophoresis on Spreadex gels. MSI was detected in 5 patients; at a single site in 2 cases and at 3, 7 and 9 sites in another 3 cases. LOH was seen in 8 cases (53%); at more than one site in 4 of these. Two patients had allelic variation at 56 and 62% of assessable sites. The most unstable loci were D2S441 (33%) and D13S325 (27%). These observations indicate that replication errors and allelic loss characterise male breast cancer tissue in much the same way as they do in women. More studies will be needed to establish whether these are random lesions or whether there are specifically affected sites that occur in both male and female breast cancer.
男性乳腺癌是一种相对罕见的疾病，约占所有男性恶性肿瘤的1%。其遗传基础很少受到关注。微卫星重复序列数改变（MSI）或杂合性缺失（LOH）所反映的等位基因失衡被认为在致癌过程中起重要作用。在本研究中，我们检测了15例接受男性乳腺癌治疗患者石蜡组织中提取的DNA，以寻找基因组中20个不同位点上此类异常的证据。通过在Spreadex凝胶上进行电泳，比较正常和肿瘤DNA对的聚合酶链反应扩增产物。在5例患者中检测到MSI；2例为单个位点，另外3例分别为3个、7个和9个位点。8例（53%）出现LOH；其中4例不止一个位点出现LOH。2例患者在56%和62%的可评估位点存在等位基因变异。最不稳定的位点是D2S441（33%）和D13S325（27%）。这些观察结果表明，复制错误和等位基因缺失在男性乳腺癌组织中的特征与女性乳腺癌组织非常相似。需要更多的研究来确定这些是随机病变还是男性和女性乳腺癌中都存在的特定受累位点。
