Pozdnyakova Olga, Miron Patricia M, Tang Guilin, Walter Otto, Raza Azra, Woda Bruce, Wang Sa A
Department of Pathology, University of Massachusetts Memorial Medical Center, University of Massachusetts School of Medicine, Worcester, MA, USA.
Cancer. 2008 Dec 15;113(12):3331-40. doi: 10.1002/cncr.23977.
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.
Clinicopathologic data were retrieved on 1029 patients who had a diagnosis of primary MDS and had available cytogenetic data (karyotype) on file.
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 (1;7)(q10;p10) had a significantly better median OS than patients who had either loss of chromosome 7 or a complex karyotype (P < .05).
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.
传统核型分析在骨髓增生异常综合征（MDS）中具有既定作用，并且被纳入国际预后评分系统（IPSS）用于患者风险分层和治疗选择。尽管一些染色体异常已得到充分表征，但几种杂合的、罕见的单一染色体异常的意义仍有待确定。此外，新兴治疗药物可能会改变MDS患者的疾病自然进程以及细胞遗传学对风险分层的影响。
检索了1029例诊断为原发性MDS且有可用细胞遗传学数据（核型）存档的患者的临床病理资料。
458例患者（45%）发现有细胞遗传学异常，最常见于伴有过多原始细胞的难治性贫血患者（62%）。总体而言，IPSS定义的3个细胞遗传学风险组——良好、中等和不良——有效地对患者的总生存期（OS）进行了分层（分别为64个月、31个月和12个月；P <.001）。除了8号染色体增多外，中等风险组内的单一细胞遗传学异常在该系列中极为罕见，但显示出不同的总生存期，从具有等臂染色体（17q）的患者的10个月到具有12p缺失[del(12p)]的患者的69个月不等，提示不同的预后意义。在细胞遗传学高风险组中，孤立性del(7q)和衍生染色体(1;7)(q10;p10)的患者的中位总生存期显著优于有7号染色体缺失或复杂核型的患者（P <.05）。
来自一大群原发性MDS患者的当前数据表明，一些特定细胞遗传学异常所携带的风险与其IPSS细胞遗传学风险组分类不同，尤其是在新的治疗时代。由于频率极低，需要进行更多的联合研究以更好地对中等细胞遗传学风险组内一些罕见的单一细胞遗传学异常进行分类。
