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Biomolecules
Special Issues
Liquid Biopsy for Disease Diagnosis and Prognosis
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Liquid Biopsy for Disease Diagnosis and Prognosis

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: closed (15 September 2022) | Viewed by 4451

Special Issue Editors

Dr. Sridurga Mithraprabhu

E-Mail Website
Guest Editor
1. Australian Centre for Blood Diseases, AMREP building, Monash University – Alfred Health, Melbourne 3004, Australia
2. Department of Malignant Haematology and Stem Cell Transplantation, Clinical Haematology, 55 Commercial Road, Alfred Health, Melbourne 3004, Australia
Interests: multiple myeloma; liquid biopsy; circulating tumour DNA; extracellular RNA; haematological malignancies
Prof. Dr. Andrew Spencer

E-Mail Website
Guest Editor
1. Australian Centre for Blood Diseases, AMREP building, Monash University – Alfred Health, Melbourne 3004, Australia
2. Department of Malignant Haematology and Stem Cell Transplantation, Clinical Haematology, 55 Commercial Road, Alfred Health, Melbourne 3004, Australia
Interests: haematology; biomarkers of drug responsiveness; blood cancer; clinical research; haematological malignancies; multiple myeloma; epigenetic therapies; novel therapeutics

Special Issue Information

Dear Colleagues,

Since the identification of cell-free nucleic acids in the blood by Mandel and Metais in 1948, the field of liquid biopsy has made great progress. Liquid biopsy refers to the analyses of blood or other bodily fluids to capture circulating tumour cells (CTC), fragments of nucleic acids or proteins and/or extracellular vesicles. These offer an attractive alternative option for disease characterisation, therapeutic monitoring, prognostics and diagnostics. The commercial aspect of liquid biopsy is rapidly emerging but is largely limited to informing treatment choices in late stage cancers. In the near future—we hope—liquid biopsy will be a ‘disruptive’ technology and will be utilised instead of extensive imaging, invasive and potentially misrepresentative tissue biopsies ultimately making an impact on real-time clinical decision, thereby improving outcomes for patients.

In this Special Issue, entitled “Liquid Biopsy for Disease Diagnosis and Prognosis”, we would like to highlight the potential utility of liquid biopsy for a range of diseases. We would like to invite scientists to submit manuscripts focusing on non-invasive methodologies for biomarker identification. Contributions to this Special Issue are invited in the format of reviews, research articles, communications, and concept papers.

Dr. Sridurga Mithraprabhu
Prof. Dr. Andrew Spencer
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • liquid biopsy
  • disease
  • biomarkers
  • prognostics
  • diagnostics

Published Papers (2 papers)

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15 pages, 1001 KiB  
Review
A Systematic Review of miRNA and cfDNA as Potential Biomarkers for Liquid Biopsy in Myocarditis and Inflammatory Dilated Cardiomyopathy
by Piotr Lewandowski, Marcin Goławski, Maciej Baron, Edyta Reichman-Warmusz and Romuald Wojnicz
Biomolecules 2022, 12(10), 1476; https://doi.org/10.3390/biom12101476 - 13 Oct 2022
Cited by 5 | Viewed by 2247
Abstract
Myocarditis and inflammatory dilated cardiomyopathy are cardiac diseases leading to heart failure. Liquid biopsy is a concept of replacing traditional biopsy with specialized blood tests. The study aim was to summarize and assess the usefulness of microRNAs and circulating free DNA as biomarkers [...] Read more.
Myocarditis and inflammatory dilated cardiomyopathy are cardiac diseases leading to heart failure. Liquid biopsy is a concept of replacing traditional biopsy with specialized blood tests. The study aim was to summarize and assess the usefulness of microRNAs and circulating free DNA as biomarkers of myocardial inflammation. For this systematic review, we searched Scopus, Embase, Web of Science, and PubMed. All studies measuring microRNAs in serum/plasma/cardiac tissue or circulating free DNA during myocarditis and non-ischemic dilated cardiomyopathy in humans in which healthy subjects or another cardiac disease served as a comparator were included. Data were extracted and miRNAs were screened and assessed using a scale created in-house. Then, highly graded miRNAs were assessed for usability as liquid biopsy biomarkers. Of 1185 records identified, 56 were eligible and 187 miRNAs were found. We did not identify any studies measuring circulating free DNA. In total, 24 of the screened miRNAs were included in the final assessment, 3 of which were selected as the best and 3 as potential candidates. We were not able to assess the risk of bias and the final inclusion decision was made by consensus. Serum levels of three miRNAs—miR-Chr8:96, miR-155, and miR-206—are the best candidates for myocardial inflammation liquid biopsy panel. Further studies are necessary to prove their role, specificity, and sensitivity. Full article
(This article belongs to the Special Issue Liquid Biopsy for Disease Diagnosis and Prognosis)
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11 pages, 2109 KiB  
Case Report
Comprehensive Genomic Profiling of Cell-Free Circulating Tumor DNA Detects Response to Ribociclib Plus Letrozole in a Patient with Metastatic Breast Cancer
by Catarina Silveira, Ana Carla Sousa, Patrícia Corredeira, Marta Martins, Ana Rita Sousa, Arnaud Da Cruz Paula, Pier Selenica, David N. Brown, Mahdi Golkaram, Shannon Kaplan, Shile Zhang, Li Liu, Britta Weigelt, Jorge S. Reis-Filho, Luís Costa and Maria Carmo-Fonseca
Biomolecules 2022, 12(12), 1818; https://doi.org/10.3390/biom12121818 - 06 Dec 2022
Viewed by 1736
Abstract
Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormone receptor-positive and human epidermal growth factor receptor (HER) [...] Read more.
Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormone receptor-positive and human epidermal growth factor receptor (HER) 2-negative breast cancer who developed bone metastases seven years after mastectomy. We analyzed circulating cell-free DNA (cfDNA) extracted from plasma using high-depth massively parallel sequencing targeting 468 cancer-associated genes, and we identified a clonal hotspot missense mutation in the PIK3CA gene (3:178952085, A > G, H1047R) and amplification of the CCND1 gene. Whole-exome sequencing revealed that both alterations were present in the primary tumor. After treatment with ribociclib plus letrozole, the genetic abnormalities were no longer detected in cfDNA. These results underscore the clinical utility of combining liquid biopsy and comprehensive genomic profiling to monitor treatment response in patients with metastasized breast cancer. Full article
(This article belongs to the Special Issue Liquid Biopsy for Disease Diagnosis and Prognosis)
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