背景:对于患有t(7;11)(p15;p15)易位的髓系肿瘤,预后相当惨淡。因为这些肿瘤很罕见,大多数事件被报告为单个病例。临床结果和最佳治疗方法仍然难以捉摸。本研究试图阐明这种细胞遗传学畸变的临床意义和预后。
方法:本研究回顾性分析23例伴t(7;11)(p15;p15)的髓系肿瘤。临床病理特征,遗传改变,并对结果进行了评估,采用Kaplan-Meier法构建生存曲线。
结果:其中,9例初诊急性髓系白血病(NDAML),7例复发难治性AML(R/RAML),4人患有骨髓增生异常综合征(MDS),两个人患有继发性AML,其中一人表现为与MDS相关的混合性生殖细胞瘤。AML中t(7;11)(p15;p15)的患者主要是年轻女性,他们更喜欢M2亚型。有趣的是,这些患者的血红蛋白和红细胞计数下降,随着乳酸脱氢酶和白细胞介素6的水平显着升高,并表现出CD117的表达。R/RAML患者表现出除t(7;11)之外的额外染色体异常(ACA)的可能性更高。WT1和FLT3-ITD是最常见的突变基因,其中10例显示了NUP98::HOXA9融合基因的证据。复合完全缓解率为66.7%(12/18),而累积移植物存活率为100%(4/4)。然而,生存结果令人沮丧.有趣的是,R/RAML患者的中位总生存期为4.0个月(95%CI:1.7~6.4).此外,AML诊断类型或ACA的存在或分子预后分层对临床结局无显著影响(分别为p=0.066,p=0.585,p=0.570).
结论:t(7;11)髓系白血病具有独特的临床特征,细胞遗传学特性,和分子遗传特征。这些生存结果令人沮丧。R/RAML患者的寿命有限。对于t(7;11)的髓样患者,靶向治疗或移植可能是一个有效的治疗过程。
BACKGROUND: For myeloid neoplasms with t(7;11)(p15;p15) translocation, the prognosis is quite dismal. Because these tumors are rare, most occurrences are reported as single cases. Clinical results and optimal treatment approaches remain elusive. This study endeavors to elucidate the clinical implications and prognosis of this cytogenetic aberration.
METHODS: This study retrospectively analyzed 23 cases of myeloid neoplasm with t(7;11)(p15;p15). Clinicopathological characteristics, genetic alterations, and outcomes were evaluated, and the Kaplan-Meier method was employed to construct survival curves.
RESULTS: Of these, nine cases were newly diagnosed acute myeloid leukemia (ND AML), seven presented with relapsed refractory AML (R/R AML), four had myelodysplastic syndrome (MDS), two had secondary AML, and one exhibited a mixed germinoma associated with MDS. Patients with t(7;11)(p15;p15) in AML were primarily younger females who preferred subtype M2. Interestingly, these patients had decreased hemoglobin and red blood cell counts, along with markedly elevated levels of lactic dehydrogenase and interleukin-6, and exhibited the expression of CD117. R/R AML patients exhibited a higher likelihood of additional chromosome abnormalities (ACAs) besides t(7;11). WT1 and FLT3-ITD were the most commonly found mutated genes, and 10 of those instances showed evidence of the NUP98::HOXA9 fusion gene. The composite complete remission rate was 66.7% (12/18), while the cumulative graft survival rate was 100% (4/4). However, the survival outcomes were dismal. Interestingly, the median overall survival for R/R AML patients was 4.0 months (95% CI: 1.7-6.4). Additionally, the type of AML diagnosis or the presence of ACAs or molecular prognostic stratification did not significantly influence clinical outcomes (p = 0.066, p = 0.585, p = 0.570, respectively).
CONCLUSIONS: Myeloid leukemia with t(7;11) exhibits unique clinical features, cytogenetic properties, and molecular genetic characteristics. These survival outcomes were dismal. R/R AML patients have a limited lifespan. For myeloid patients with t(7;11), targeted therapy or transplantation may be an effective course of treatment.