Harrison M, Magee H M, O'Loughlin J, Gorey T F, Dervan P A
Department of Pathology, University College Dublin, Ireland.
J Pathol. 1995 Mar;175(3):303-9. doi: 10.1002/path.1711750308.
Because of the relative rarity of ductal carcinoma in situ (DCIS) in the premammographic screening era, the unavailability of adequate fresh tissue for culture, and the lack of cytogenetic expertise in most pathology departments, there is little information on karyotypic abnormalities in DCIS. The purpose of this study was to investigate the frequency of chromosome 1 aneusomy in DCIS, using interphase cytogenetic techniques, and to correlate the findings with nuclear grade. Twenty-one cases of DCIS, identified in a mammographically screened population, were studied by in situ hybridization. Chromosome 1 numbers were identified in interphase nuclei in conventional histology sections, using a specific centromeric probe (pUC 1.77). In each case, 100 tumour nuclei were compared with 100 normal nuclei. Eighteen of 21 (86 per cent) cases were aneusomic for chromosome 2. This included 15 of 16 (94 per cent) pure comedo or predominantly comedo DCIS. Fifteen of 16 (94 per cent) DCIS with grade 3 nuclei and 3 of 5 (60 per cent) cases with grade 2 nuclei were aneusomic. One case with grade 3 nuclei (a comedo carcinoma) was negative. We conclude that chromosome 1 aneusomy precedes invasion and is a relatively consistent occurrence in those DCIS with high nuclear grade.
由于在乳腺钼靶筛查时代原位导管癌（DCIS）相对罕见，缺乏足够的新鲜组织用于培养，且大多数病理科缺乏细胞遗传学专业知识，关于DCIS核型异常的信息很少。本研究的目的是使用间期细胞遗传学技术研究DCIS中1号染色体非整倍体的频率，并将结果与核分级相关联。对在乳腺钼靶筛查人群中确诊的21例DCIS病例进行原位杂交研究。使用特异性着丝粒探针（pUC 1.77）在常规组织学切片的间期核中鉴定1号染色体数目。在每个病例中，将100个肿瘤细胞核与100个正常细胞核进行比较。21例病例中有18例（86%）存在2号染色体非整倍体。这包括16例纯粉刺型或主要为粉刺型DCIS中的15例（94%）。16例3级核DCIS中有15例（94%）和5例2级核病例中有3例（60%）存在非整倍体。1例3级核病例（粉刺癌）为阴性。我们得出结论，1号染色体非整倍体先于浸润出现，并且在那些高核级DCIS中相对一致地发生。
