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本文引用的文献

1
Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation.体细胞突变预测造血干细胞移植后骨髓增生异常综合征患者预后不良。
J Clin Oncol. 2014 Sep 1;32(25):2691-8. doi: 10.1200/JCO.2013.52.3381. Epub 2014 Aug 4.
2
Clinical and genetic predictors of prognosis in myelodysplastic syndromes.骨髓增生异常综合征预后的临床和遗传预测指标
Haematologica. 2014 Jun;99(6):956-64. doi: 10.3324/haematol.2013.085217.
3
Specific abnormalities versus number of abnormalities and cytogenetic scoring systems for outcome prediction after allogeneic hematopoietic SCT for myelodysplastic syndromes.异基因造血干细胞移植治疗骨髓增生异常综合征后用于结局预测的特定异常与异常数量及细胞遗传学评分系统
Bone Marrow Transplant. 2014 Aug;49(8):1022-8. doi: 10.1038/bmt.2014.87. Epub 2014 May 5.
4
Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing.通过下一代测序检测NPM1突变型急性髓系白血病中的微小残留病
Mod Pathol. 2014 Nov;27(11):1438-46. doi: 10.1038/modpathol.2014.57. Epub 2014 Apr 18.
5
Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome.原发性骨髓增生异常综合征患者疾病进展过程中 ASXL1 突变及其他相关遗传改变的动态变化。
Blood Cancer J. 2014 Jan 17;4(1):e177. doi: 10.1038/bcj.2013.74.
6
Treosulfan, fludarabine, and 2-Gy total body irradiation followed by allogeneic hematopoietic cell transplantation in patients with myelodysplastic syndrome and acute myeloid leukemia.三氧化二砷、氟达拉滨和 2Gy 全身照射联合异基因造血细胞移植治疗骨髓增生异常综合征和急性髓系白血病。
Biol Blood Marrow Transplant. 2014 Apr;20(4):549-55. doi: 10.1016/j.bbmt.2014.01.009. Epub 2014 Jan 16.
7
Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.Array-CGH 作为儿科 MDS 和 JMML 细胞遗传学诊断的辅助工具。
Med Oncol. 2013 Dec;30(4):734. doi: 10.1007/s12032-013-0734-1. Epub 2013 Oct 2.
8
Better leukemia-free and overall survival in AML in first remission following cyclophosphamide in combination with busulfan compared with TBI.与 TBI 相比,环磷酰胺联合白消安在 AML 首次缓解后可改善无白血病生存和总生存。
Blood. 2013 Dec 5;122(24):3863-70. doi: 10.1182/blood-2013-07-514448. Epub 2013 Sep 24.
9
Somatic SETBP1 mutations in myeloid malignancies.体细胞 SETBP1 突变与髓系恶性肿瘤。
Nat Genet. 2013 Aug;45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7.
10
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.TCF12 基因突变,该基因编码 TWIST1 的基本螺旋-环-螺旋伴侣,是冠状颅缝早闭的常见原因。
Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27.

异基因造血细胞移植治疗骨髓增生异常综合征后的复发:使用比较核型和染色体基因组阵列检测对晚期复发进行分析

Relapse after Allogeneic Hematopoietic Cell Transplantation for Myelodysplastic Syndromes: Analysis of Late Relapse Using Comparative Karyotype and Chromosome Genome Array Testing.

作者信息

Yeung Cecilia C S, Gerds Aaron T, Fang Min, Scott Bart L, Flowers Mary E D, Gooley Ted, Deeg H Joachim

机构信息

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.

Department of Pathology, University of Washington, Seattle, Washington.

出版信息

Biol Blood Marrow Transplant. 2015 Sep;21(9):1565-1575. doi: 10.1016/j.bbmt.2015.04.024. Epub 2015 May 4.

DOI:10.1016/j.bbmt.2015.04.024
PMID:25953732
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4772678/
Abstract

Relapse is a major cause of failure after allogeneic hematopoietic cell transplantation (HCT) in patients with myelodysplastic syndromes (MDS). We analyzed the relapse pattern in 1007 patients who underwent transplantation for MDS to identify factors that may determine the timing of relapse. Overall, 254 patients relapsed: 213 before 18 months and 41 later than 18 months after HCT, a time point frequently used in clinical trials. The hazard of relapse declined progressively with time since transplantation. A higher proportion of patients with early relapse had high-risk cytogenetics compared with patients with late relapse (P = .009). Patients with late relapse had suggestively longer postrelapse survival than patients who relapsed early, although the difference was not statistically significant (P = .07). Among 41 late relapsing patients, sequential cytogenetic data were available in 36. In 41% of these, new clonal abnormalities in addition to pre-HCT findings were identified at relapse; in 30% pre-HCT abnormalities were replaced by new clones, in 17.3% the same clone was present before HCT and at relapse, and in 9.7%, no abnormalities were present either before HCT or at relapse. Comparative chromosomal genomic array testing in 3 patients with late relapse showed molecular differences not detectable by cytogenetics between the pre-HCT clones and the clones at relapse. These data show that late relapses are not infrequent in patients who undergo transplantation for MDS. The pattern of new cytogenetic alterations at late relapse is similar to that observed in patients with early relapse and supports the concept that MDS relapse early and late after HCT is frequently due to the emergence of clones not detectable before HCT.

摘要

复发是骨髓增生异常综合征(MDS)患者异基因造血细胞移植(HCT)后治疗失败的主要原因。我们分析了1007例接受MDS移植患者的复发模式,以确定可能决定复发时间的因素。总体而言,254例患者复发:213例在HCT后18个月内复发,41例在HCT后18个月后复发,18个月是临床试验中常用的时间点。自移植后,复发风险随时间逐渐下降。与晚期复发患者相比,早期复发患者中具有高危细胞遗传学特征的比例更高(P = .009)。晚期复发患者的复发后生存期似乎比早期复发患者更长,尽管差异无统计学意义(P = .07)。在41例晚期复发患者中,36例有连续的细胞遗传学数据。其中41%在复发时除了发现移植前的异常外,还发现了新的克隆性异常;30%移植前的异常被新的克隆所取代,17.3%在移植前和复发时存在相同的克隆,9.7%在移植前和复发时均未发现异常。对3例晚期复发患者进行的比较染色体基因组阵列检测显示,移植前克隆与复发时克隆之间存在细胞遗传学无法检测到的分子差异。这些数据表明,接受MDS移植的患者中晚期复发并不罕见。晚期复发时新的细胞遗传学改变模式与早期复发患者中观察到的相似,支持了HCT后MDS早期和晚期复发常因移植前未检测到的克隆出现的观点。