Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice
Abstract
:Simple Summary
Abstract
1. Introduction
2. Lynch Syndrome
2.1. Genetic and Molecular Background
2.2. Clinical and Diagnostic Overview
2.3. LS and Breast Cancer: What Is the Real Link?
3. miRNAs
3.1. Biogenesis and Mechanism of Action
3.2. Colorectal Cancer and miRNAs
- Early diagnosis and detection: miRNAs represent promising non-invasive biomarkers for the diagnosis of CRC. They can be detected in blood or other body fluids, enabling early diagnosis of the disease. Some miRNAs, such as miR-21, miR-92a, and miR-135b, were found to be upregulated in CRC patients [112,113,114,115].
- Prognosis and risk stratification: aberrant expression of specific miRNAs was associated with the prognosis and survival of CRC patients. Among them, miR-21 and miR-29a were correlated with a poor prognosis and shorter overall survival in CRC [116,117]. This information may be useful for identifying any patients who may need more aggressive treatment or closer monitoring.
- Prediction of treatment response: miRNAs can help to predict a patient’s response to a specific treatment. For example, some miRNAs, such as miR-21 or miR-17, have been related to resistance or sensitivity to chemotherapeutic agents commonly used in the treatment of CRC, such as 5-fluorouracil (5-FU) or oxaliplatin [118,119].
- Monitoring of treatment response and relapse: changes in miRNA expression levels during treatment can be monitored to evaluate treatment response and detect potential relapse. The monitoring of specific miRNAs, e.g., miR-21 or miR-155, can provide data on treatment efficacy and help in the process of personalizing approaches [118].
3.3. Lynch Syndrome and miRNAs
3.3.1. miR-21
3.3.2. miR-137
3.3.3. miR-155
3.3.4. Other miRNAs Player in Lynch Syndrome
3.4. miRNAs Correlated with CRC and MSI Status
3.4.1. miRNAs and MSI-L Status
miR-92
let-7
miR-145
3.4.2. miRNAs and MSI-H Status
miR-26b
miR-31
miR-223
3.4.3. miRNAs and MSS Status
miR-196a
4. Current Clinical Scenario and Future Perspectives
- Adenomatous polyp may initially develop with classic biallelic loss of APC and subsequently cause dMMR, leading to the accumulation of mutations fundamental to tumor growth [53].
- Adenomatous polyps may lose MMR early and subsequently acquire frameshift mutations in the single nucleotide repeats of the RNF43 gene, inducing malignant transformation [178].
- The traditional adenomatous polyp stage could be completely bypassed [55].
4.1. Overview of Treatment in the Era of Precision Medicine
4.2. Immunotherapy
4.3. Potential Use of miRNAs as Biomarkers or Therapeutic Targets
5. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Study Title | ID | Status | Last Update Posted |
---|---|---|---|
Project CADENCE (CAncer Detected Early caN be CurEd) (CADENCE) | NCT05633342 | Recruiting | 20-03-2023 |
Predictive and Prognostic Value of Inflammatory Markers and microRNA in Stage IV Colorectal Cancer | NCT04149613 | Enrolling by invitation | 20-07-2022 |
Establishment of Molecular Classification Models for Early Diagnosis of Digestive System Cancers | NCT05431621 | Recruiting | 24-06-2022 |
Validation of a microRNA-based Fecal (miRFec) Test for Colorectal Cancer Screening | NCT05346757 | Recruiting | 26-04-2022 |
Timisnar-Biomarkers Substudy (Timisnar-mirna) | NCT03962088 | Recruiting | 28-07-2021 |
microRNAs Tool for Stratifying Stage II Colon Cancer | NCT0263508 | Recruiting | 30-12-2015 |
A 6 microRNA Tool for Stratifying Stage II Colon Cancer of Receiving Adjuvant Chemotherapy | NCT02466113 | Not yet recruiting | 09-06-2015 |
Quantifying Micro RNA Levels of Colon (CRC) | NCT01712958 | Unknown status | 24-10-2012 |
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Ascrizzi, S.; Arillotta, G.M.; Grillone, K.; Caridà, G.; Signorelli, S.; Ali, A.; Romeo, C.; Tassone, P.; Tagliaferri, P. Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice. Cancers 2023, 15, 3930. https://doi.org/10.3390/cancers15153930
Ascrizzi S, Arillotta GM, Grillone K, Caridà G, Signorelli S, Ali A, Romeo C, Tassone P, Tagliaferri P. Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice. Cancers. 2023; 15(15):3930. https://doi.org/10.3390/cancers15153930
Chicago/Turabian StyleAscrizzi, Serena, Grazia Maria Arillotta, Katia Grillone, Giulio Caridà, Stefania Signorelli, Asad Ali, Caterina Romeo, Pierfrancesco Tassone, and Pierosandro Tagliaferri. 2023. "Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice" Cancers 15, no. 15: 3930. https://doi.org/10.3390/cancers15153930