Sneige N, Sahin A, Dinh M, El-Naggar A
Department of Pathology, The University of Texas M.D. Anderson Cancer Center, Houston 77030 , USA.
Hum Pathol. 1996 Apr;27(4):330-5. doi: 10.1016/s0046-8177(96)90104-5.
Chromosomal aneuploidy in 25 mammographically detected breast lesions (MDBL) were determined on cytological smears using directly labeled pericentromeric probes for chromosomes 7 to 12, 17, 18 and X. The lesions included seven nonproliferative (NP) lesions, seven atypical hyperplasias (AHs), and 11 carcinomas (CAs). No other significant histological findings were identified in the remaining specimens except in two mammographically detected NP lesions, where foci of AH were present in adjacent sections; therefore, these two specimens were included in the AH lesion group (moderately increased risk lesions). Corresponding tissue sections were evaluated, and the results were correlated with fluorescent in situ hybridization (FISH) results. Monosomy was defined as the loss of one signal in > or = 15% of cells, and trisomy or tetrasomy was defined by the presence of three or more signals in > or = 3% of cells. Chromosomal aberrations were detected in 2 of 5 NP, 9 of 9 AH, and 11 of 11 CA groups. The mean number of cells with three or more signals, for all chromosomes, was 1.04 +/- 0.9 in the NP group, 8.5 +/- 9.4 in the AH group, and 20.2 +/- 5.4 in the CAs. A significant statistical difference was noted between the different groups (P = .0001). Chromosomal gain was the most common aberration and involved all chromosomes. The X chromosome was the only individual chromosome with significant differences in NP, AH, and CA groups. Chromosomal loss was observed in five specimens (20%) and involved chromosomes 8, 10, 17, and 18. The authors conclude (1) significant chromosomal aberrations can be detected in AH lesions and in NP epithelium from patients with moderately increased risk lesions; (2) numerical chromosomal aberrations tend to increase with progression of disease; (3) the frequent chromosomal gains/losses involving AH suggest that some AH may display submicroscopic features of malignancy; and (4) combined chromosomal aberrations allow for significant categorization of breast lesions, especially in cytology specimens.
利用直接标记的着丝粒周围探针检测染色体7至12、17、18和X，在25例乳腺钼靶检测到的乳腺病变（MDBL）的细胞学涂片上确定染色体非整倍体情况。这些病变包括7例非增殖性（NP）病变、7例非典型增生（AH）和11例癌（CA）。除了2例乳腺钼靶检测到的NP病变外，其余标本未发现其他显著的组织学发现，在这2例NP病变的相邻切片中存在AH灶；因此，这2个标本被纳入AH病变组（风险中度增加的病变）。对相应的组织切片进行评估，并将结果与荧光原位杂交（FISH）结果进行关联。单体性定义为在≥15%的细胞中一个信号缺失，三体性或四体性定义为在≥3%的细胞中存在三个或更多信号。在5例NP病变中的2例、9例AH病变中的9例和11例CA病变中的11例检测到染色体畸变。NP组中所有染色体具有三个或更多信号的细胞平均数为1.04±0.9，AH组为8.5±9.4，CA组为20.2±5.4。不同组之间存在显著的统计学差异（P = 0.0001）。染色体增加是最常见的畸变，涉及所有染色体。X染色体是NP、AH和CA组中唯一具有显著差异的单个染色体。在5个标本（20%）中观察到染色体缺失，涉及染色体8、10、17和18。作者得出结论：（1）在AH病变和风险中度增加患者的NP上皮中可检测到显著的染色体畸变；（2）染色体数目畸变倾向于随着疾病进展而增加；（3）涉及AH的频繁染色体增加/缺失表明一些AH可能表现出恶性肿瘤的亚微观特征；（4）联合染色体畸变有助于对乳腺病变进行显著分类,尤其是在细胞学标本中。
