Division of Hematology, Oncology, Blood and Marrow Transplantation, Department of Medicine, University of Iowa Hospital and Clinics, Iowa City, IA 52242, USA.
Eur J Haematol. 2012 Oct;89(4):294-301. doi: 10.1111/j.1600-0609.2012.01830.x. Epub 2012 Aug 8.
Monosomal karyotype (MK) is defined as the presence of two or more autosomal monosomies or a single monosomy associated with a structural abnormality. It was first described as a high-risk cytogenetic abnormality for acute myeloid leukemia and more recently in myelodysplastic syndromes (MDS). However, allotransplant outcome in MDS with MK has not been described.
We retrospectively reviewed data of 79 patients with MDS who underwent allotransplant at the University of Iowa from 1990 to 2009. We recorded patients' cytogenetic data, clinical characteristics and evaluated outcome following allogeneic stem cell transplant stratified by cytogenetic classification.
Of 79 patients, 37 (47%) had unfavorable karyotypes (23 complex karyotype, 25 abnormal chromosome 7). Twenty-four patients (30%) had MK. Twenty-four patients (30%) relapsed and 59 (74.7%) died during study period. Patients with MK had higher 2-yr relapse incidence (RI) (51% vs. 29%; P = 0.01), lower 2-yr event-free survival (EFS) (8% vs. 40%; P = 0.02), and lower 2-yr overall survival (OS)(6% vs. 41%; P = 0.02) than patients without MK. We further analyzed the effect of MK in each unfavorable karyotype composite. Although the outcome was not statistically different, unfavorable karyotypes with patients with MK showed a trend toward higher 2-yr RI [hazard ratio (HR), 1.7; P = 0.34], lower 2-yr EFS (HR, 1.5; P = 0.29), and lower 2-yr OS (HR, 1.5; P = 0.28) compared to unfavorable karyotypes without MK.
Cytogenetic abnormalities remain an important prognostic factor for allotransplant outcome of MDS. Our results suggested poor allotransplant outcomes with high RI and low OS in MDS with MK.
单体核型（MK）定义为存在两种或两种以上常染色体单体或与结构异常相关的单一单体。它最初被描述为急性髓性白血病的高风险细胞遗传学异常，最近也在骨髓增生异常综合征（MDS）中描述。然而，MDS 伴 MK 的同种异体移植结果尚未描述。
我们回顾性分析了 1990 年至 2009 年在爱荷华大学接受同种异体移植的 79 例 MDS 患者的数据。我们记录了患者的细胞遗传学数据、临床特征，并根据细胞遗传学分类对接受异基因干细胞移植后的结果进行分层评估。
在 79 例患者中，37 例（47%）具有不良核型（23 例复杂核型，25 例异常染色体 7）。24 例（30%）患者出现 MK。24 例（30%）患者在研究期间复发，59 例（74.7%）患者死亡。MK 患者 2 年复发率（RI）较高（51% vs. 29%；P = 0.01），2 年无事件生存率（EFS）较低（8% vs. 40%；P = 0.02），2 年总生存率（OS）较低（6% vs. 41%；P = 0.02）。我们进一步分析了 MK 在每种不良核型综合中的作用。尽管结果无统计学差异，但 MK 患者的不良核型显示出较高的 2 年 RI [危险比（HR），1.7；P = 0.34]、较低的 2 年 EFS（HR，1.5；P = 0.29）和较低的 2 年 OS（HR，1.5；P = 0.28）趋势，与无 MK 的不良核型相比。
细胞遗传学异常仍然是 MDS 同种异体移植结果的重要预后因素。我们的结果表明，MDS 伴 MK 的同种异体移植结果较差，复发率高，OS 低。
