1.The prospect and challenge of liquid biopsy in the diagnosis and treatment of chest malignancy.
Li Fang MA ; Bing Jie ZENG ; Xian Zhao WANG ; Xiao ZHANG ; Jia Yi WANG
Chinese Journal of Preventive Medicine 2023;57(7):968-975
In recent years, the incidence of chest malignant tumors in China has increased year by year, which has seriously threatened the health problems of people. Among them, early screening and intervention of patients with chest malignancies is the key to cancer prevention. Early detection, early diagnosis, and early treatment as the "three early prevention" of clinical practice are conducive to improve the survival rate of tumor patients. As a non-invasive and real-time reflection of tumor status, liquid biopsy has gradually received attention in clinical diagnosis and treatment. Circulating tumor cells (CTCs), circulating tumor DNA (ctDNA) and exosomes as liquid biopsy "Three carriages" are not only widely used in the diagnosis, monitoring and prognostic evaluation of chest malignancies, but also face many unknown challenges. In this article, the application of liquid biopsy in chest malignancies in recent years is elaborated in detail, which provides a reference for the formulation of clinical tumor prevention and diagnosis and treatment strategies.
Humans
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Circulating Tumor DNA/genetics*
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Liquid Biopsy/methods*
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Neoplastic Cells, Circulating/pathology*
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China
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Biomarkers, Tumor
2.Clinical Application and Research Progress of Circulating Tumor DNA in Diffuse Large B-Cell Lymphoma--Review.
Journal of Experimental Hematology 2022;30(6):1917-1921
Diffuse large B cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma, its diagnosis and prognosis evaluation mainly depends on tissue biopsy and imaging examination. As a part of liquid biopsy, circulating tumor DNA (ctDNA) is a novel noninvasive and real-time tumor-specific biomarker, which can reliably reflect the comprehensive tumor genetic profiles, and it plays an important role in assisting early diagnosis, monitoring the curative effect, prognosis evaluation and prediction of recurrence of DLBCL. This review summarized recent research progress of ctDNA in DLBCL.
Humans
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Circulating Tumor DNA
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Lymphoma, Large B-Cell, Diffuse
4.Research Progress on the Application of Liquid Biopsy in the Diagnosis and Treatment of Small Cell Lung Cancer.
Xiaomin ZHANG ; Mengyuan XU ; Xichuan LI ; Yanjun SU
Chinese Journal of Lung Cancer 2022;25(8):609-614
Small cell lung cancer (SCLC) is a malignant tumor with strong invasiveness and high mortality. It has the characteristics of easy metastasis, fast growth, high degree of malignancy and strong invasiveness. The prognosis of patients is generally poor. The current clinical diagnosis of SCLC is mainly based on tissue biopsy, which is invasive, long cycle time and high cost. In recent years, liquid biopsy has been gradually applied because of its non-invasive, comprehensive and real-time characteristics that traditional tissue biopsy does not have. The main detection objects of liquid biopsy include circulating tumor DNA (ctDNA), circulating tumor cells (CTCs) and exosomes in peripheral blood. The application of liquid biopsy in the clinical treatment of SCLC will help clinicians to improve the detailed diagnosis of SCLC patients, as well as the timely control and response to the treatment response of patients.
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Biomarkers, Tumor
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Circulating Tumor DNA
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Humans
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Liquid Biopsy
;
Lung Neoplasms/therapy*
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Neoplastic Cells, Circulating/metabolism*
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Small Cell Lung Carcinoma/therapy*
5.Consistency Analysis of Gene Mutation Sites of Bone Marrow Tumor DNA and Circulating Tumor DNA in Patients with Myelodysplastic Syndrome.
Pan ZHAO ; Qian-Ze ZHU ; Teng FAN ; Wei-Yi LIU ; Hai-Yan XIAO ; Jia-Yue QIN ; Gang HUANG ; Xiao-Mei HU
Journal of Experimental Hematology 2019;27(1):149-158
OBJECTIVE:
To analyze the consistency of gene mutation sites between bone marrow DNA (BM-tDNA) and perepheral plasma circulating tumor DNA (PP-ctDNA) in patients with myelodysplastic syndrome (MDS).
METHODS:
The simultaneous sampled BM and PP from 19 patients (SBPP) was detected by NGS-127 gene panel, and the consistency of VAF between BM-tDNA and PP-ctDNA was analyzed. The peripheral blood cell tumor DNA (PC-tDNA) of 5 out of 19 patients was detected randomly, the consistency of VAF among PC-tDNA,BM-tDNA and PP-ctDNA was analyzed. The non simultaneous sampled BM and PP from 13 patients (NBPP) was detected, and the difference value of VAF between BM-tDNA and PP-ctDNA in SBPP and NBPP was analyzed.
RESULTS:
The average concentration of PP-ctDNA in SBPP was 0.59 ng/µl and 0.604 ng/µl in NBPP. The median concentration of PP-ctDNA in SBPP and NBPP was 0.330 ng/µl and 0.338 ng/µl, respectively. The study showed a good consistency of VAF between BM-tDNA and PP-ctDNA in the SBPP (R=0.9693, P<0.05), and the consistency of VAF between BM-tDNA and PP-ctDNA in single base replacement (SNP) sites (R=0.9712) was better than that in insertion deletion (Indel) sites (R=0.6813). The results showed a good consistency of VAF between BM-tDNA and PP-ctDNA both in 12 patients before treatment (R=0.9325, P<0.05) and 5 patients (R=0.9875, P<0.05) after treatment. The results also showed that the VAF of PC-tDNA had a good consistency with the VAF of BM-tDNA (R=0.8783) and PP-ctDNA (R=0.8783) (P<0.05). The difference value of VAF between BM-tDNA and PP-ctDNA in SBPP was significantly lower than that in NBPP (P<0.05).
CONCLUSION
PP can replace BM as a biological sample for genes mutation detection in patients with MDS due to its stable concentration, high degree of consistency with bone marrow in clinical significant mutation sites and easy collection.
Bone Marrow Neoplasms
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Circulating Tumor DNA
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DNA, Neoplasm
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Humans
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Mutation
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Myelodysplastic Syndromes
6.Research progress on circulating tumor DNA as a biomarker for minimal residual disease in solid tumors.
Chinese Journal of Contemporary Pediatrics 2023;25(10):1072-1077
Circulating tumor DNA (ctDNA) is emerging as a novel biomarker for tumor evaluation, offering advantages such as high sensitivity and specificity, minimal invasiveness, and absence of radiation. Currently, various techniques including gene sequencing and PCR are employed for ctDNA detection. The utilization of ctDNA for monitoring minimal residual disease (MRD) enables comprehensive assessment of tumor status and early identification of tumor recurrence, achieving a remarkable detection sensitivity of 0.01%. Therefore, ctDNA holds promise as a biomarker for early diagnosis, treatment response monitoring, and prognosis prediction in solid tumors. This article reviews the commonly used methods for detecting ctDNA and their advantages in evaluating tumor MRD and guiding clinical diagnosis and treatment.
Humans
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Circulating Tumor DNA/genetics*
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Neoplasm, Residual/genetics*
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Biomarkers, Tumor/genetics*
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Neoplasm Recurrence, Local
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Prognosis
7.Clinical Application of Circulating Tumor DNA in Diffuse Large B-Cell Lymphoma--Review.
Xiao-Feng CHEN ; Meng WANG ; Feng ZHANG ; Jia-Jia LI
Journal of Experimental Hematology 2021;29(2):638-642
Diffuse large B-cell lymphoma (DLBCL) as an aggressive lymphoma, there has not a good molecular marker to assess the therapeutic efficacy and prognosis of the disease. As compared with the traditional deteation method, it was found that the circulating tumor DNA (ctDNA) can be used as a non-invasive specific biomarker which can dynamically provide the information about the lymphoma. ctDNA in DLBCL can be obtained by dideoxy chain termination method combined with PCR, so as to detect genetic markers, targeted sequences of gene which is related to lymphoma; the digital PCR (dPCR) for lymphoma somatic mutations and the detection of abnormal methylation; ctDNA is closely related to the diagncsis, therapeutic efficiency and prognosis of DLBCL, thus ctDNA can be used for the early detection, mid-term and prognostic monitoring in DLBCL, which makes ctDNA have a broad clinical applied prospect.
Biomarkers, Tumor
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Circulating Tumor DNA
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Humans
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Lymphoma, Large B-Cell, Diffuse/genetics*
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Polymerase Chain Reaction
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Prognosis
8.Evaluation of circulating tumor DNA as a biomarker for gynecological tumors.
Kang-Sheng LIU ; Hua TONG ; Tai-Ping LI ; Ya-Jun CHEN
Chinese Medical Journal 2020;133(21):2613-2615
9.Advances in Clinical Application of Liquid Biopsy in Non-small Cell Lung Cancer.
Chinese Journal of Lung Cancer 2021;24(10):723-728
Lung cancer, with the highest incidence in China, is the leading cause of death in cancer patients. Of these, about 85% are patients with non-small cell lung cancer (NSCLC). Therefore, the diagnosis and treatment of patients with lung cancer have always been a top priority nowadays. Fluid biopsy has many advantages, such as safety, convenience, repeatability, low trauma and so on, which are not available in traditional invasive biopsy. In recent years, with the rapid progress of molecular biological detection technology, fluid biopsy, as a new technology, has become the focus of attention. What's more, it contributes to the development of precision treatment and individualized treatment of lung cancer. Liquid biopsy mainly detects circulating tumor DNA (ctDNA), circulating tumor cells (CTCs) and exosomes in peripheral blood. We will make an introduce to the detection and clinical applications of ctDNA, CTCs and exocrine in this article, in order that it can provide insights into future clinical treatment for NSCLC.
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Biomarkers, Tumor
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Carcinoma, Non-Small-Cell Lung/diagnosis*
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Circulating Tumor DNA
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Humans
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Liquid Biopsy
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Lung Neoplasms/diagnosis*
10.Circulating tumor DNA in lung cancer: real-time monitoring of disease evolution and treatment response.
Chinese Medical Journal 2020;133(20):2476-2485
Lung cancer is one of the leading causes of all cancer-related deaths. Circulating tumor DNA (ctDNA) is released from apoptotic and necrotic tumor cells. Several sensitive techniques have been invented and adapted to quantify ctDNA genomic alterations. Applications of ctDNA in lung cancer include early diagnosis and detection, prognosis prediction, detecting mutations and structural alterations, minimal residual disease, tumor mutational burden, and tumor evolution tracking. Compared to surgical biopsy and radiographic imaging, the advantages of ctDNA are that it is a non-invasive procedure, allows real-time monitoring, and has relatively high sensitivity and specificity. Given the massive research on non-small cell lung cancer, attention should be paid to small cell lung cancer.
Biomarkers, Tumor/genetics*
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Carcinoma, Non-Small-Cell Lung
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Circulating Tumor DNA/genetics*
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Humans
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Lung Neoplasms/genetics*
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Mutation/genetics*