Chinese Expert Consensus on the Clinical Practice of Non-small Cell Lung Cancer Fusion Gene Detection Based on RNA-based NGS / 中国肺癌杂志

RNA-based next-generation sequencing (NGS) has been recommended as a method for detecting fusion genes in non-small cell lung cancer (NSCLC) according to clinical practice guidelines and expert consensus. The primary targetable alterations in NSCLC consist of gene mutations and fusions, making the detection of gene mutations and fusions indispensable for assessing the feasibility of targeted therapies. Currently, the integration of DNA-based NGS and RNA-based NGS allows for simultaneous detection of gene mutations and fusions and has been partially implemented in clinical practice. However, standardized guidelines and criteria for the significance, application scenarios, and quality control of RNA-based NGS in fusion gene detection are still lacking in China. This consensus aims to provide further clarity on the practical significance, application scenarios, and quality control measures of RNA-based NGS in fusion gene detection. Additionally, it offers guiding recommendations to facilitate the clinical implementation of RNA-based NGS in the diagnosis and treatment of NSCLC, ultimately maximizing the benefits for patients from fusion gene detection.
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Application progress of transcriptome sequencing in hematological malignancies / 白血病·淋巴瘤

Transcriptome sequencing (RNA-seq) has unique advantages in analyzing gene fusion, splicing mutations, and gene expression profiles. Single-cell RNA-seq provides powerful tools to reveal cellular heterogeneity in normal and tumor tissues. With the widespread application of high-throughput gene sequencing technology and the rapid reduction in cost, RNA-seq is increasingly used in hematological malignancies research. This article introduces the related research progress in conjunction with reports at the 61st American Society of Hematology Annual Meeting.

Identification of new fusion genes and their clinical significance in endometrial cancer / 中华医学杂志(英文版)

Background@#Fusion genes may play an important role in tumorigenesis, prognosis, and drug resistance; however, studies on fusion genes in endometrial cancer (EC) are rare. This study aimed to identify new fusion genes and to explore their clinical significance in EC.@*Methods@#A total of 28 patients diagnosed with EC were enrolled in this study. RNA sequencing was used to obtain entire genomes and transcriptomes. STAR-comparison and STAR-fusion prediction were applied to predict the fusion genes. Chi-square tests and Student t tests were used to verify the clinical significance with SPSS 13.0 software.@*Results@#New fusion genes were found, and the number of fusion genes varied from 3 to 110 among all patients with EC. The type of fusion genes varied and included messenger RNA (mRNA)-mRNA, long non-coding RNA (lncRNA)-lncRNA, and lncRNA-mRNA. There were six fusion genes with high fusion rates, namely, RP11–123O10.4–GRIP1, RP11–444D3.1–SOX5, RP11– 680G10.1–GSE1, NRIP1–AF127936.7, RP11–96H19.1–RP11–446N19.1, and DPH7–PTP4A3. Further studies showed that these fusion genes are related to stage, grade, and recurrence, in which NRIP1–AF127936.7 and DPH7–PTP4A3 were found only in stage III patients with EC. DPH7–PTP4A3 was found in grades 2 and 3, and recurrent patients with EC.@*Conclusion@#Fusion genes play an essential role in EC. Six genes that are overexpressed with high fusion rates are identified. NRIP1– AF127936.7 and DPH7–PTP4A3 might be related to stage, and DPH7–PTP4A3 be related to grade and recurrence.

Acute promyelocytic leukaemia with a novel translocation t(16;17) (q12;p13): a case report

Acute promyelocytic leukaemia (APML) is characterised by the t(15;17)(q22;q21), that results in the fusion of the promyelocytic leukaemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current case report describes a 13-year-old male with APML, who was negative for PML/RARA fusion signal but reported to have an atypical translocation t(16;17). To the best of our knowledge this is the first case report of APML responsive to ATRA with such a translocation.

Progress in pathogenesis of childhood acute leukemia / 国际儿科学杂志

Acute leukemia is one of the most common cancers among children.The biological mechanisms leading to leukemia have not been fully clarified until now.Experiments were improved that most patients developing acute leukemia had abnormal chromosomes,including TEL/AML-l,BCR/ABL,PML/RAR-α fusion genes,which would be potential clinical biomarkers.Many genetic polymorphisms have effect on acute lymphoblastic leukemia susceptibility,which were containing genes involved in folate metabolism pathways,cytochrome P450,glutathione-S-transferase enzymes and quinone oxidoreductase-1.As the results of the studies,alcohol,tobacco,TNF-α and IFN-γ might be risk factors to the disease.Furthermore infection and IRF-3 were reported to reduce the occurrence of acute leukemia.Finally,as more is learned about the molecular pathology,it may be possible to develop new therapeutic agents which are specifically targeted to treat childhood acute leukemia.