Cervantes M, Glassman A B
Division of Laboratory Medicine, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
Ann Clin Lab Sci. 1996 May-Jun;26(3):208-14.
Cytogenetic analyses of hematological neoplasms have proved to be relevant in the diagnosis, treatment, and prognosis of afflicted patients. Breast cancer (BC) cytogenetics is expected to contribute in the same fashion. Literature has shown that clone-specific chromosomal changes do occur in BC, yet, their clinical significance is unknown. Most of the studies have been conducted on patients with advanced stage tumor. Karyotypic analyses of the few reported cases from stage I BC tumors revealed a higher frequency of single clonal abnormalities. This work describes an ongoing BC cytogenic study on samples from stage I tumors to enhance and clarify this observation. Included as control are chromosomal analyses of peripheral blood and peritumoral normal tissue samples of these patients, which might provide information regarding predisposing cytogenetic aberrations. Non-random chromosomal abnormalities in BC include involvement of chromosomes 1, 3, 6, 11, 16, and 17. Three groups of non-random chromosomal alterations, ranging from specific abnormalities, partial monosomies, and secondary changes (eg, numerical loss of chromosomes) are described. Survival appears to be more favorable in patients without complex karyotypes. A better understanding of the clinical and etiologic implications of BC is expected to emerge from continued assessment of breast tumor cytogenetics.
血液肿瘤的细胞遗传学分析已被证明在患病患者的诊断、治疗和预后方面具有重要意义。乳腺癌（BC）的细胞遗传学有望以同样的方式发挥作用。文献表明，BC中确实会出现克隆特异性染色体变化，但其临床意义尚不清楚。大多数研究是针对晚期肿瘤患者进行的。对少数I期BC肿瘤报告病例的核型分析显示，单克隆异常的频率较高。这项工作描述了一项正在进行的关于I期肿瘤样本的BC细胞遗传学研究，以加强和阐明这一观察结果。作为对照，对这些患者的外周血和肿瘤周围正常组织样本进行染色体分析，这可能会提供有关易患细胞遗传学畸变的信息。BC中的非随机染色体异常包括1、3、6、11、16和17号染色体的受累。描述了三组非随机染色体改变，范围从特定异常、部分单体性和继发性改变（如染色体数目减少）。没有复杂核型的患者的生存似乎更有利。通过对乳腺肿瘤细胞遗传学的持续评估，有望更好地理解BC的临床和病因学意义。
