Eiriksdottir G, Sigurdsson A, Jonasson J G, Agnarsson B A, Sigurdsson H, Gudmundsson J, Bergthorsson J T, Barkardottir R B, Egilsson V, Ingvarsson S
Department of Pathology, University and National Hospital of Iceland, Reykjavik, Iceland.
Int J Cancer. 1995 Dec 20;64(6):378-82. doi: 10.1002/ijc.2910640605.
Primary breast tumors were tested for loss of heterozygosity (LOH), on chromosome 9p with microsatellite markers restricted to a 28 cM region including the MTS1 gene. LOH was found with at least 1 marker in 38% of the 201 cases analyzed. A high frequency of deletions was detected at the 9p23-p21 region, indicating a tumor suppressor gene(s) important for breast cancer tumorigenesis. Tumors with and without LOH on 9p were compared with respect to clinico-pathological factors using chi 2 analysis. Tumors with 9p LOH were significantly associated with high S-phase status and aneuploidy, but not with type, node status, estrogen and progesterone receptor content or age of the patients at diagnosis. Survival analysis showed that LOH at 9p did not significantly affect the survival rate of breast cancer patients. Our results indicate that the aberrations on 9p detected in this study are not of independent prognostic value. A significant association was found between LOH at 9p and LOH at chromosomal arms 3p and 6q, which is an additional contribution toward understanding the genetic events in breast tumor pathogenesis.
利用局限于一个包括MTS1基因的28厘摩区域的微卫星标记，对原发性乳腺肿瘤进行9号染色体短臂杂合性缺失（LOH）检测。在分析的201例病例中，38%的病例至少有1个标记检测到LOH。在9p23 - p21区域检测到高频缺失，表明存在对乳腺癌发生发展至关重要的一个或多个肿瘤抑制基因。采用卡方分析，比较了9号染色体短臂有和无LOH的肿瘤的临床病理因素。9号染色体短臂有LOH的肿瘤与高S期状态和非整倍体显著相关，但与肿瘤类型、淋巴结状态、雌激素和孕激素受体含量或诊断时患者年龄无关。生存分析表明，9号染色体短臂的LOH对乳腺癌患者的生存率无显著影响。我们的结果表明，本研究中检测到的9号染色体短臂畸变无独立的预后价值。发现9号染色体短臂的LOH与3号染色体短臂和6号染色体长臂的LOH之间存在显著关联，这对理解乳腺肿瘤发病机制中的遗传事件有额外贡献。
