Klinik für Hämatologie, Charité CBF, Hindenburgdamm 30, 12200, Berlin, Germany.
Exp Hematol Oncol. 2012 Apr 18;1(1):6. doi: 10.1186/2162-3619-1-6.
This report describes the clinical courses of two acute myeloid leukemia patients. Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion. They achieved a clinical remission under conventional chemotherapy but relapsed shortly after end of therapy. Both had a history of invasive mycoses (one had possible pulmonary mycosis, one systemic candidiasis). Because no HLA-identical donor was available, a haploidentical transplantation was performed in both cases. Using a specially designed PCR method for the assessment of minimal residual disease (MRD), based on the quantitative detection of the individual chromosomal breakpoint in the MLL gene, both patients achieved complete and persistent molecular remission after transplantation. The immune reconstitution after transplantation is described in terms of total CD3+/CD4+, CD3+/CD8+, CD19+, and CD16+/CD56+ cell numbers over time. The KIR and HLA genotypes of donors and recipients are reported and the possibility of a KIR-mediated alloreactivity is discussed. This report illustrates that haploidentical transplantation may offer a chance of cure without chronic graft-versus-host disease in situations where no suitable HLA-identical donor is available even in a high-risk setting and shows the value of MRD monitoring in the pre- and posttransplant setting.
本报告描述了两位急性髓系白血病患者的临床病程。两位患者均存在 MLL 易位，其中一位为 t(10;11)(p11.2;q23)，伴有 MLL-AF10 融合基因；另一位为 t(11;19)(q23;p13.1)，伴有 MLL-ELL 融合基因。他们在常规化疗下获得临床缓解，但在治疗结束后不久即复发。两位患者均有侵袭性真菌感染史（一位可能患有肺部真菌感染，另一位患有系统性念珠菌病）。由于没有 HLA 完全相合的供者，因此在两位患者中均进行了单倍体相合移植。采用专门设计的基于 MLL 基因中个体染色体断点定量检测的微小残留病（MRD）评估 PCR 方法，两位患者在移植后均获得完全和持续的分子缓解。本文还描述了移植后免疫重建情况，包括总 CD3+/CD4+、CD3+/CD8+、CD19+和 CD16+/CD56+细胞数量随时间的变化。报告了供者和受者的 KIR 和 HLA 基因型，并讨论了 KIR 介导的同种异体反应的可能性。本报告表明，在没有合适的 HLA 完全相合供者的情况下，即使在高风险环境中，单倍体相合移植也可能提供无慢性移植物抗宿主病的治愈机会，并显示了移植前和移植后 MRD 监测的价值。
