Machnicki J L, Bloomfield C D
Department of Medicine, Roswell Park Cancer Institute, Buffalo, New York.
Clin Lab Med. 1990 Dec;10(4):755-67.
Clonal chromosome abnormalities are found in more than half the patients with hematologic malignancies. Karyotype is an independent prognostic factor in these patients. Cytogenetic findings correlate significantly with morphologic, immunologic, and clinical features as well as response to treatment, remission duration, and survival. The number of different cytogenetic abnormalities is enormous; however, many cytogenetic findings frequently occur in a given disease (e.g., abnormalities of 5 or 7 in 75% to 90% of patients with therapy-related AML). Some abnormalities are found only in myeloid malignancies, for example, the t(8;21)(q22;q22) and rearrangements of chromosome 16q22, both of which have a good prognosis. Other abnormalities usually are found in both myeloid and lymphoid malignancies, for example, the t(4;11)(q21;q23) and t(9;22)(q34;q11), both of which have a poor prognosis. The Human Gene Mapping Conferences have compiled much cytogenetic data and produced several interesting correlations in myeloid malignancies: rearrangements of 3q21-26 with myeloid proliferations associated with environmental exposure (similar to abnormalities of 5q, 7q, 12p, and 17q), aberrations of 12p, 11q13 and 11q23 with both myeloid and lymphoid disorders, and the lack of myeloid involvement and abnormalities of chromosomes 14 and 18. In conclusion, cytogenetic analysis of neoplastic cells at diagnosis for patients with MDS, AML, and SAML is required for appropriate diagnosis and treatment. The use of chromosome abnormalities to separate patients into high- and low-risk groups eventually may allow us to be more effective in selecting curative therapy.
超过半数的血液系统恶性肿瘤患者存在克隆性染色体异常。核型是这些患者的一个独立预后因素。细胞遗传学结果与形态学、免疫学、临床特征以及治疗反应、缓解期和生存期显著相关。不同细胞遗传学异常的数量众多；然而，许多细胞遗传学结果在特定疾病中经常出现（例如，75%至90%的治疗相关急性髓系白血病患者存在5号或7号染色体异常）。一些异常仅在髓系恶性肿瘤中发现，例如，t(8;21)(q22;q22)和16q22染色体重排，这两种异常预后均较好。其他异常通常在髓系和淋巴系恶性肿瘤中均有发现，例如，t(4;11)(q21;q23)和t(9;22)(q34;q11)，这两种异常预后均较差。人类基因定位会议收集了大量细胞遗传学数据，并在髓系恶性肿瘤中得出了一些有趣的相关性：3q21 - 26重排与环境暴露相关的髓系增殖（类似于5q、7q、12p和17q异常）、12p、11q13和11q23畸变与髓系和淋巴系疾病均有关，以及14号和18号染色体缺乏髓系受累和异常。总之，对于骨髓增生异常综合征、急性髓系白血病和治疗相关急性髓系白血病患者，诊断时对肿瘤细胞进行细胞遗传学分析对于恰当的诊断和治疗是必需的。利用染色体异常将患者分为高风险和低风险组最终可能使我们在选择治愈性治疗方面更有效。
