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伴有 t(7;11)(p15;p15) 易位的髓系肿瘤患者的临床特征和预后:一项单中心回顾性研究。

Clinical features and prognosis of patients with myeloid neoplasms harboring t(7;11)(p15;p15) translocation: a single-center retrospective study.

机构信息

Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

Zhejiang Province Key Laboratory of Hematology Oncology, Diagnosis, and Treatment, Hangzhou, China.

出版信息

BMC Cancer. 2024 Aug 5;24(1):955. doi: 10.1186/s12885-024-12679-8.

Abstract

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).

CONCLUSION

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.

摘要

背景

对于伴有 t(7;11)(p15;p15)易位的髓系肿瘤,预后相当差。由于这些肿瘤很少见,大多数病例都是单独报道的。临床结果和最佳治疗方法仍然难以捉摸。本研究旨在阐明这种细胞遗传学异常的临床意义和预后。

方法

本研究回顾性分析了 23 例伴有 t(7;11)(p15;p15)易位的髓系肿瘤。评估了临床病理特征、基因改变和结果,并采用 Kaplan-Meier 法构建生存曲线。

结果

其中 9 例为新发急性髓系白血病(NDAML),7 例为复发难治性 AML(R/R AML),4 例为骨髓增生异常综合征(MDS),2 例为继发性 AML,1 例为混合生殖细胞瘤合并 MDS。AML 中伴有 t(7;11)(p15;p15)的患者主要为年轻女性,且更喜欢亚型 M2。有趣的是,这些患者的血红蛋白和红细胞计数降低,乳酸脱氢酶和白细胞介素-6 水平显著升高,并表达 CD117。R/R AML 患者除 t(7;11)外,还存在更高的额外染色体异常(ACAs)的可能性。WT1 和 FLT3-ITD 是最常见的突变基因,其中 10 例存在 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,生存结果却很糟糕。有趣的是,R/R AML 患者的中位总生存期为 4.0 个月(95%CI:1.7-6.4)。此外,AML 的诊断类型、ACAs 的存在或分子预后分层均未显著影响临床结果(p=0.066,p=0.585,p=0.570)。

结论

伴有 t(7;11)的髓系白血病具有独特的临床特征、细胞遗传学特征和分子遗传学特征。这些生存结果很糟糕。R/R AML 患者的寿命有限。对于伴有 t(7;11)的髓系肿瘤患者,靶向治疗或移植可能是一种有效的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b861/11301825/8b623f80f883/12885_2024_12679_Fig1_HTML.jpg

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