Lundin C, Mertens F
Department of Clinical Genetics, Uppsala University Hospital, Sweden.
Breast Cancer Res Treat. 1998 Sep;51(1):1-15. doi: 10.1023/a:1006009531378.
This review summarizes the cytogenetic information on benign breast lesions of various histologies, i.e., fibrocystic lesions from women with and without a known hereditary predisposition to breast cancer, fibroadenomas, phyllodes tumors, and papillomas, and relate the chromosomal features with those in breast carcinoma. In general, the frequency of chromosome abnormalities is lower in benign lesions than in breast cancer, and seems to correlate with the histologic features of the tissue, and the corresponding risk of developing invasive mammary carcinoma; aberrations are more common in proliferative than in nonproliferative lesions. The karyotypes are generally less complex than those detected in invasive carcinoma, and more often involve balanced rearrangements. No lesion-specific aberration has so far been detected; on the contrary, changes repeatedly encountered in breast cancer samples can be found in benign lesions as well, e.g., gain of 1q, interstitial deletion of 3p, and trisomies 7, 18, and 20. Especially intriguing is the prevalence of rearrangements of the short arm of chromosome 3, with the minimally deleted bands 3p13-14, in proliferative lesions from prophylactic mastectomies in breast cancer families. The potential tumor suppressor gene(s) in this region remains, however, to be identified.
本综述总结了各种组织学类型的乳腺良性病变的细胞遗传学信息,即有和无已知乳腺癌遗传易感性的女性的纤维囊性病变、纤维腺瘤、叶状肿瘤和乳头状瘤,并将染色体特征与乳腺癌中的染色体特征进行关联。一般来说,良性病变中染色体异常的频率低于乳腺癌,且似乎与组织的组织学特征以及发生浸润性乳腺癌的相应风险相关;增殖性病变中的畸变比非增殖性病变更常见。核型通常比浸润性癌中检测到的核型更简单,且更常涉及平衡重排。迄今为止,尚未检测到病变特异性畸变;相反,在良性病变中也能发现乳腺癌样本中反复出现的变化,例如1q增益、3p间质缺失以及7、18和20三体。特别引人关注的是,在乳腺癌家族预防性乳房切除术中的增殖性病变中,3号染色体短臂重排的发生率较高,最小缺失带为3p13 - 14。然而,该区域潜在的肿瘤抑制基因仍有待确定。