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[通过检测16号染色体长臂杂合性缺失对乳腺囊内乳头状肿瘤进行鉴别诊断]

[Differential diagnosis of intracystic papillary tumors of the breast by examination of loss of heterozygosity on chromosome 16q].

作者信息

Tsuda H

出版信息

Gan To Kagaku Ryoho. 1995 Apr;22 Suppl 1:52-8.

PMID:7747993
Abstract

Loss of heterozygosity on chromosome 16q region is shown to occur frequently in breast cancers regardless of difference in phenotype or extent of tumor spread, and inactivation of tumor-suppressor genes located on the region is considered to be involved in the acquisition of malignant phenotype of mammary glandular epithelial cells. Intracystic papillary carcinoma of the breast is diagnostically important entity because of the difficulty of differential diagnosis from intraductal papilloma preoperatively. Indeed, intracystic papillary carcinoma is usually of low-grade histologic atypia (Grade 1), and its well differentiated nature is biochemically supported by high estrogen-receptor and progesterone-receptor value in their tissue extract. Among intracystic papillary tumors of the breast, LOH on chromosome 16q was detected in 71% of intracystic papillary carcinoma, whereas it was absent in intraductal papilloma by both of Southern blot analysis and microsatellite polymorphism analysis mediated by polymerase chain reaction. Therefore, LOH on chromosome 16q was suggested to be helpful for differential diagnosis of intracystic papillary tumors and to be applicable to the materials of fine needle aspiration performed preoperatively.

摘要

研究表明,无论乳腺癌的表型差异或肿瘤扩散程度如何,16q染色体区域的杂合性缺失在乳腺癌中都很常见,该区域肿瘤抑制基因的失活被认为与乳腺腺上皮细胞恶性表型的获得有关。乳腺囊内乳头状癌是一个具有重要诊断意义的实体,因为术前很难与导管内乳头状瘤进行鉴别诊断。实际上,囊内乳头状癌通常组织学异型性较低(1级),其高分化特性在组织提取物中高雌激素受体和孕激素受体值的生化支持下得以体现。在乳腺囊内乳头状肿瘤中,通过Southern印迹分析和聚合酶链反应介导的微卫星多态性分析,在71%的囊内乳头状癌中检测到16q染色体上的杂合性缺失,而在导管内乳头状瘤中未检测到。因此,16q染色体上的杂合性缺失有助于乳腺囊内乳头状肿瘤的鉴别诊断,并适用于术前细针穿刺的材料。

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