Circulating RNAs in serum, plasma or other body liquid have emerged as useful and highly promising biomarkers for noninvasive diagnostic application. Herein, we aimed to establish a serum long non-coding RNAs (lncRNAs) signature for diagnosing nasopharyngeal carcinoma (NPC). In this study, we recruited a cohort of 101 NPC patients, 20 patients with chronic nasopharyngitis (CN), 20 EBV carriers (EC) and 101 healthy controls. qRT-PCR was performed with NPC cells and serum samples to screen a pool of 38 NPC-related lncRNAs obtained from the LncRNADisease database. A profile of three circulating lncRNAs (MALAT1, AFAP1-AS1 and AL359062) was established for NPC diagnosis. By Receiver Operating Characteristic (ROC) curve analysis, this three-lncRNA signature showed high accuracy in discriminating NPC from healthy controls (AUC = 0.918), CN (AUC = 0.893) or EC (AUC = 0.877). Furthermore, high levels of these three lncRNAs were closely related to advanced NPC tumor node metastasis stages and EBV infection. Serum levels of these three lncRNAs declined significantly in patients after therapy. Our present study indicates that circulating MALAT1, AFAP1-AS1 and AL359062 may represent novel serum biomarkers for NPC diagnosis and prognostic prediction after treatment.

A growing number of evidence has indicated that long non-coding RNAs (lncRNA) may have many functions in the development and progression of cancer, and cloud serve as good diagnostic and prognostic biomarkers in cancers. However, these studies often revealed the changes of lncRNAs within a specific cancer type. Here, we focused on BLACAT1 and provided a comprehensive pan-cancer analysis to evaluate the diagnostic and prognostic values of BLACAT1. The expression data of BLACAT1 were came from the quantitative real-time polymerase chain reaction (qRT-PCR) and The Cancer Genome Atlas (TCGA) database, respectively. Our results showed that the change of serum BLACAT1 expression was similar to those in matched tissues. The expression level of BLACAT1 both in serum and tissues in multiple cancer types were significantly upregulated compared to those of matched non-cancer participants. The serum BLACAT1 had a high diagnostic performance among these 12 types of cancer. The relative AUC of serum BLACAT1 in cancer patients ranged from 0.833 to 0.967 compared to that in healthy subjects. Surprisingly, Kaplan-Meier survival analysis revealed that the high expression level of BLACAT1 was significantly associated with poor overall survival only in uterine corpus endometrial carcinoma (p = 0.002, log-rank test). These findings demonstrated that BLACAT1 could act as a non-specific diagnostic biomarker for cancers and a potential biomarker for prognosis prediction of endometrial cancer.Electronic supplementary materialThe online version of this article (10.1186/s12943-017-0728-2) contains supplementary material, which is available to authorized users.

The aim of this study is to explore the differentially expressed lncRNAs, which may have potential biological function and diagnostic value in colorectal cancer (CRC). Through integrated data mining, we finally identified nine differentially expressed lncRNAs and their potential mRNA targets. After a series of bioinformatics analyses, we screened significant pathways and GO terms that are related to the up-regulated and down-regulated transcripts respectively. Meanwhile, the nine lncRNAs were validated in 30 paired tissues and cell lines by qRT-PCR and the results were basically consistent with the microarray data. We also tested the nine lncRNAs in the serum of 30 CRC patients matched with the CRC tissue, 30 non-cancer patients and 30 health controls. Finally, we found that BLACAT1 was significant for the diagnosis of CRC. The area under the curve (AUC), sensitivity and specificity were 0.858 (95% CI: 0.765–0.951), 83.3% and 76.7% respectively between CRC patients and health controls. Moreover, BLACAT1 also had distinct value to discriminate CRC from other non-cancer diseases. The results indicated that the differentially expressed lncRNAs and their potential target transcripts could be considered as potential therapeutic targets for CRC patients. Meanwhile, lncRNA BLACAT1 might represent a new supplementary biomarker for the diagnosis of CRC.

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The aim of this paper was to describe a case of familial hemophagocytic lymphohistiocytosis (HLH) in a pediatric patient with a PRF1 homozygous mutation. An 8-year-old boy diagnosed with HLH was in remission after undergoing nonspecific treatment; however, merely 2 months later, he was presented at our hospital with a relapse of HLH. His genetic analysis showed that he had a homozygous mutation c.1066C>T in the PRF1 gene. Timely distinction of primary HLH from secondary HLH is critical.

Background: Colorectal cancer (CRC) is prevalent worldwide and novel diagnostic and prognostic biomarkers are needed to improve precision medicine. Circulating circular RNAs (circRNAs) are currently being considered as emerging tumor biomarkers. Methods: Candidate circRNA was selected by integrating analysis of Gene Expression Omnibus (GEO) database using GEO2R program. The expression data of serum circ_001659 were obtained from the quantitative real-time polymerase chain reaction (qRT-PCR). Receiver operating characteristic curves were applied to evaluate the clinical applications of circ_001659. Finally, biological functions and potential mechanisms of circ_001659 in tumor progression were investigated in CRC progression. Results: The results showed that the diagnostic performance of serum circ_001659 were excellent for CRC detection. The predictive values and likelihood ratios were satisfactory for the diagnosis of CRC, including patients in early-stage disease or patients with carcinoembryonic antigen (CEA)-negative status. Serum levels of circ_001659 declined significantly 3 months after surgery in both preoperative CEA-positive and CEA-negative patients. Functionally, circ_001659 influenced tumor cell metastasis via regulating epithelial-mesenchymal transition (EMT) and cytoskeleton organization. Conclusion: Our findings demonstrate that circ_001659 could be a useful serum biomarker for CRC diagnosis and prognosis. Targeting circ_001659 and its pathway may be meaningful for treating patients with CRC.