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首页> 外文期刊>Cancer: A Journal of the American Cancer Society >Cytogenetic Abnormalities in a Series of 1029 Patients With Primary Myelodysplastic Syndromes A Report From the US With a Focus on Some Undefined Single Chromosomal Abnormalities
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Cytogenetic Abnormalities in a Series of 1029 Patients With Primary Myelodysplastic Syndromes A Report From the US With a Focus on Some Undefined Single Chromosomal Abnormalities

机译：一系列1029例原发性骨髓增生异常综合征患者的细胞遗传学异常美国的一份报告，重点关注一些未定义的单染色体异常

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BACKGROUND. Conventional karyotype has an established role in myelodysplastic syndrome (MDS) and is included in the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Although some chromosomal abnormalities have been well characterized, the significance of several miscellaneous, infrequent, single chromosomal abnormalities remains to be defined. In addition, the emerging therapeutic agents may change the natural course of disease in patients with MDS and the cytogenetic impact on risk stratification.METHODS. Clinicopathologic data were retrieved on 1029 patients who had a diagnosis of primary MDS and had available cytogenetic data (karyotype) on file. RESULTS. Cytogenetic abnormalities were identified in 458 patients (45%) and occurred most frequently in patients who had refractory anemia with excess blasts (62%). Overall, the 3 cytogenetic risk groups defined by the IPSS-good, intermediate, and poor-effectively stratified the patients' overall survival (OS) (64 months, 31 months, and 12 months, respectively; P <.001). With the exception of gain of chromosome 8, single cytogenetic abnormalities within the intermediate group were extremely infrequent in the series but demonstrated variable OS ranging from 10 months for patients who had isochromosome (17q) to 69 months for patients who had deletion of 12p [del(12p)], suggesting different prognostic significance. In the poor cytogenetic risk group, patients with isolated del(7q) and derivative (l;7)(ql0;pl0) had a significantly better median OS than patients who had either loss of chromosome 7 or a complex karyotype (P < .05). CONCLUSIONS. The current data generated from a large cohort of patients with primary MDS indicated that some specific cytogenetic abnormalities carry different risk than their IPSS cytogenetic risk-group assignment, especially in the new treatment era. Because of the extreme low frequency, additional combined studies are needed to better categorize some rare single cytogenetic abnormalities within the intermediate cytogenetic risk group. .
机译：背景。常规核型在骨髓增生异常综合症（MDS）中已确立作用，并已包括在国际预后评分系统（IPSS）中，用于患者风险分层和治疗选择。尽管已经很好地表征了某些染色体异常，但仍有许多其他的，不常见的单个染色体异常的重要性。此外，新兴的治疗剂可能会改变MDS患者的自然病程以及对风险分层的细胞遗传学影响。检索了1029例诊断为原发性MDS并有可用细胞遗传学数据（核型）的患者的临床病理数据。结果。在458例患者中发现了细胞遗传学异常（45％），在难治性贫血伴有大量母细胞的患者中最常见（62％）。总体而言，由IPSS定义的3个细胞遗传学风险组分别为好，中和差，有效地将患者的总生存期（OS）分层（分别为64个月，31个月和12个月; P <.001）。除获得第8号染色体外，中间组中的单个细胞遗传异常在该系列中极少发生，但表现出可变的OS，范围从具有同染色体（17q）的患者10个月到缺失12p [del]的患者69个月。 （12p）]，提示不同的预后意义。在不良的细胞遗传学风险组中，与缺失7号染色体或复杂核型的患者相比，孤立的del（7q）和衍生物（l; 7）（ql0; pl0）的患者的中位OS显着更高（P <.05 ）。结论。来自大量原发性MDS患者的最新数据表明，某些特定的细胞遗传学异常携带的风险与其IPSS细胞遗传学风险分组的风险不同，尤其是在新的治疗时代。由于发生频率极低，需要进行更多的合并研究，以更好地将中等细胞遗传学风险组中的一些罕见的单个细胞遗传学异常分类。 。

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