Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies
Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies
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DOI：
10.1182/blood-2011-07-367508
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发表时间：
2012-01-12
期刊：
影响因子：
20.3
通讯作者：
Schlenk, Richard F.
中科院分区：
文献类型：
--
作者：
Kayser, Sabine;Zucknick, Manuela;Schlenk, Richard F.
我们的目的是在当前世界卫生组织（WHO）分类的背景下确定单染色体核型（MK）对急性髓系白血病（AML）预后的影响，并评估同种异体造血干细胞移植后MK+患者的预后。1058例细胞遗传学异常患者中，319例（30%）为MK MK+。MK+患者明显年龄较大（P = 0.0001），白细胞计数较低（P = 0.0006），骨髓原细胞百分比较低（P = 0.0004）；MK与-5/5q-、-7、7q-、abnl（12p）、abnl（17p）、-18/18q-、-20/20q-、inv(3)/t（3; 3）、复杂核型（CK）和骨髓增生异常（MDS）相关的细胞遗传学异常相关（P均< 0.0001）；NPM1突变（P < 0.0001）、FLT3内部串联重复（P < 0.0001）和酪氨酸激酶结构域突变（P = 0.02）在MK+中较少发生。MK+患者对诱导治疗的反应和总生存期令人沮丧，完全缓解率为32.5%，4年生存率为9%。MK在伴有CK的AML、伴有mds相关细胞遗传学异常的AML中保留了其预后影响，在修订的定义（MK- r）中，根据WHO的分类，MK排除了复发性遗传异常的病例和那些衍生染色体不导致真正的单体的病例。在年轻患者中，来自匹配的相关和非相关供体的同种异体造血干细胞移植导致总体生存的有限改善。[血液。2012;119(2):551-558]
We aimed to determine the prognostic impact of monosomal karyotype (MK) in acute myeloid leukemia (AML) in the context of the current World Health Organization (WHO) classification and to evaluate the outcome of MK+ patients after allogeneic HSCT. Of 1058 patients with abnormal cytogenetics, 319 (30%) were MK MK+. MK+ patients were significantly older (P = .0001), had lower white blood counts (P = .0006), and lower percentages of BM blasts (P = .0004); MK was associated with the presence of -5/5q-, -7,7q-, abnl(12p), abnl(17p), -18/18q-, -20/20q-, inv(3)/t(3; 3), complex karyotype (CK), and myelodysplasia (MDS)related cytogenetic abnormalities (P < .0001, each); and NPM1 mutations (P < .0001), FLT3 internal tandem duplications (P < .0001), and tyrosine kinase domain mutations (P = .02) were less frequent in MK+. Response to induction therapy and overall survival in MK+ patients were dismal with a complete remission rate of 32.5% and a 4-year survival of 9%. MK retained its prognostic impact in AML with CK, AML with MDS-related cytogenetic abnormalities, and in a revised definition (MK-R) excluding cases with recurrent genetic abnormalities according to WHO classification and those with derivative chromosomes not leading to true monosomies. In younger patients, allogeneic HSCT from matched related and unrelated donors resulted in a limited improvement of overall survival. (Blood. 2012; 119(2): 551-558)