DIAGNOSTIC RELEVANCE OF CLONAL CYTOGENETIC ABERRATIONS IN MALIGNANT SOFT-TISSUE TUMORS
DIAGNOSTIC RELEVANCE OF CLONAL CYTOGENETIC ABERRATIONS IN MALIGNANT SOFT-TISSUE TUMORS
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DOI：
10.1056/nejm199102143240702
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发表时间：
1991-02-14
影响因子：
158.5
通讯作者：
CORSON, JM
中科院分区：
文献类型：
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作者：
FLETCHER, JA;KOZAKEWICH, HP;CORSON, JM
背景。 恶性软组织肿瘤常常带来巨大的诊断挑战。 在某些类型的软组织肿瘤中已经鉴定出可能具有诊断意义的染色体畸变，但这些畸变的总体频率和诊断相关性尚未确定。 我们试图在直接收获细胞或短期培养后确定一系列 62 个连续的、未经选择的恶性梭形细胞或小圆形细胞软组织肿瘤（来自 46 个成人和 16 个儿童）的核型。 除常规光学显微镜评估外，所有肿瘤均通过免疫组织化学染色独立检查，并且除两个肿瘤外的所有肿瘤均通过电子显微镜检查。结果。 从 62 个肿瘤中的 61 个获得中期细胞，并在 55 个肿瘤（89%）中鉴定出克隆染色体畸变。 在产生中期但缺乏明显克隆畸变的六个肿瘤中，发现正常中期源自肿瘤标本内的非肿瘤性基质成分。 因此，核型分析成功的所有肿瘤都含有克隆染色体畸变。 62 个肿瘤中的 40 个（65%）含有克隆染色体畸变，这些畸变要么提示或证实了特定的诊断；在其中 15 个肿瘤（占所有肿瘤的 24%）中，畸变对于最终诊断非常重要。 细胞遗传学分析对于儿童小圆细胞肿瘤的信息特别丰富：14 个圆细胞肿瘤中有 8 个含有诊断上重要的染色体畸变。 利用光学和电子显微镜、免疫组织化学和细胞遗传学的综合方法，我们对 62 个肿瘤中的 60 个肿瘤建立了明确的诊断。结论。 细胞遗传学分析揭示了几乎所有恶性软组织肿瘤中的克隆染色体畸变。 这些克隆性染色体畸变，尤其是儿童小圆细胞肿瘤，通常具有诊断相关性。
Background. Malignant soft-tissue tumors often present substantial diagnostic challenges. Chromosome aberrations that might be diagnostic have been identified in some types of soft-tissue tumors, but the overall frequency and diagnostic relevance of these aberrations have not been established.Methods. We attempted to determine the karyotypes of a series of 62 consecutive, unselected malignant spindle-cell or small round-cell soft-tissue tumors (from 46 adults and 16 children) after direct harvesting of cells or short-term culture. All tumors were examined independently by immunohistochemical staining in addition to routine light-microscopical evaluation, and all but two tumors were examined by electron microscopy.Results. Metaphases were obtained from 61 of the 62 tumors, and clonal chromosome aberrations were identified in 55 (89 percent). In the six tumors that yielded metaphases but lacked apparent clonal aberrations, the normal metaphases were found to originate from non-neoplastic stromal elements within the tumor specimens. Thus, all tumors in which karyotyping was successful contained clonal chromosome aberrations. Forty of 62 tumors (65 percent) contained clonal chromosome aberrations that either suggested or confirmed a specific diagnosis; in 15 of these tumors (24 percent of all tumors), the aberrations were important in establishing the final diagnosis. Cytogenetic analyses were particularly informative about small round-cell tumors from children: 8 of 14 round-cell tumors contained diagnostically important chromosome aberrations. Using the combined approaches of light and electron microscopy, immunohistochemistry, and cytogenetics, we established an unambiguous diagnosis for 60 of 62 tumors.Conclusions. Cytogenetic analyses reveal clonal chromosome aberrations in virtually all malignant soft-tissue tumors. These clonal chromosome aberrations, particularly in small round-cell tumors in children, often have diagnostic relevance.