Prognostic value and potential mechanism of long non-coding RNA Lnc-SMIM20-1 in acute myeloid leukemia

Acute myeloid leukemia (AML) is a common hematologic malignancy with high heterogeneity and poor prognosis. Although long non-coding RNAs (lncRNAs) have been used as biomarkers for tumors, the clinical relevance of numerous lncRNAs in AML remains to be investigated.
Differentially expressed lncRNAs between AML and normal peripheral blood samples were identified using DESeq2. Pan-cancer analysis was performed by GEPIA tool. Kaplan–Meier survival curve was applied for prognosis analysis. KEGG pathway analysis and GSEA were used for functional enrichment. The ceRNA network was constructed by GDCRNAtools.
Lnc-SMIM20-1 was most highly expressed in AML and up-regulated in the TCGA-AML cohort compared to normal tissues. Patients with high expression of Lnc-SMIM20-1 had poor overall prognosis both in the TCGA adult AML cohort and the TARGET pediatric AML cohort, no matter whether they were treated with chemotherapy or allo-HSCT. Lnc-SMIM20-1 might participate in cancer-associated signaling pathways and immune-related signaling pathways by interacting with four microRNAs and 20 mRNAs.
Lnc-SMIM20-1 was up-regulated in AML acting as a stable poor prognostic factor. The prognostic impact of Lnc-SMIM20-1 cannot be overcome by allo-HSCT. Our findings provide insight into the clinical relevance of Lnc-SMIM20-1 in AML; aiming to progress the development of novel therapeutics.

急性髓系白血病（Acute myeloid leukemia, AML）是一类常见的血液系统恶性肿瘤，具有高度异质性且预后不良。尽管长链非编码RNA（long non-coding RNAs, lncRNAs）已被用作肿瘤生物标志物，但众多lncRNAs在AML中的临床相关性仍有待探究。
研究人员通过DESeq2工具鉴定了AML样本与正常外周血样本间的差异表达lncRNAs；借助GEPIA工具开展泛癌分析；采用卡普兰-迈耶（Kaplan–Meier）生存曲线进行预后分析；运用KEGG通路分析及基因集富集分析（GSEA）完成功能富集研究；通过GDCRNAtools构建内源竞争RNA（competing endogenous RNA, ceRNA）调控网络。
Lnc-SMIM20-1在AML中呈高表达状态，且相较于正常组织，在TCGA-AML队列中显著上调。在TCGA成人AML队列及TARGET儿童AML队列中，Lnc-SMIM20-1高表达患者均表现出较差的总体预后，无论其接受化疗还是异基因造血干细胞移植（allo-HSCT）治疗。Lnc-SMIM20-1可能通过结合4种微小RNA（miRNAs）及20条mRNA，参与癌症相关信号通路与免疫相关信号通路的调控。
Lnc-SMIM20-1在AML中呈上调表达，可作为稳定的不良预后因子，且其预后不良影响无法通过异基因造血干细胞移植抵消。本研究揭示了Lnc-SMIM20-1在AML中的临床相关性，以期为新型治疗策略的研发提供理论依据。