Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
3. Overlapping Lynch Syndrome and IBD
3.1. IBD and Overlapped Lynch Syndrome
3.2. IBD and Overlapped FAP
4. Mechanisms of IBD-Associated CRC
4.1. Colitis-Associated Colorectal Cancer (CAC) Occurrence
4.2. Chromosomal Instability: The Adenoma–Carcinoma Sequence
4.3. Microsatellite Instability (MSI)
5. CRC Risk of Concomitant IBD and HCCS
6. Discussion
7. Conclusions
Author Contributions
Funding
Conflicts of Interest
Abbreviations
References
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Studies Investigating Clinical Outcomes of Patients with Co-Existing IBD and Lynch Syndrome (LS) | ||||||||
---|---|---|---|---|---|---|---|---|
Authors | Year | Country | IBD + LS (n) | LS (n) | CRCs (n) | IBD-LS Related CRC (%) | LS-Related CRC (%) | p-Value |
McNamara et al. [20] | 2016 | United States | 12 | 4 | 33.3% (4/12) | |||
Derikx et al. [21] | 2017 | Netherlands | 15 | 1031 | 315 | 26.7% (4/15) | 30.2% (15/1031) | 0.205 |
Faisal et al. [22] | 2022 | United States | 7 | 50 | 57.1% (4/7) | 53.5% (23/43) | 0.86 | |
Barberio et al. [23] | 2022 | Italy, France, Belgium, Israel, Germany, Malta | 16 | 50% (8/16) | ||||
Patel S et al. [24] | 2024 | United States | 568 | 24,016 | 1277 | 7.7% (44/567) | 4.9% (1183/25,306) | <0.001 |
CRC Location | Endoscopic Features | Histologic Features | Molecular Pathway | |
---|---|---|---|---|
HCCS | In LS, CRC are typycally located in the right colon | Poypoid and non-polypoid lesions; multiple/multifocal | CRC can display a poor differentiation, and exhibit a mucinous or signet ring histological type | In LS mostly via microsatellite instability (MSI) |
LS, FAP, aFAP, MAP | In polyposis, syndromes can be located in any segment (left > right) | In polyposis, syndromes displays chromosomal instability (via inactivation of APC, and overexpression of β-catenin) | ||
IBD (UC, CD) | Can be located in any segment, usually linked to disease extension (left > right) | Polypoid, non-polypoid, or invisible; inflammatory changes can be present; stricturing, ulcerated, irregular; multifocal | Mucinous, usually moderately differentiated to signet ring cell with/without inflammatory component | Inflammation-dysplasia-carcinoma sequence; aneuploidy, TP53, APC, and KRAS mutations |
HCCS + IBD | Can be located in any segment, can present multiple neoplasia (synchronous/metachronous) | Mixed and heterogeneous aspects; polypoid, non-polypoid, or invisible; multifocal | From mucinous (moderately differentiated) to partly signet ring cell carcinoma (poorly differentiated), or micropapillary, partly mucinous | Unknown; possible DNA damage linked to inflammation, with worsened impairment/suppression of MMR |
Surveillance Recommendations for Genetic and High-Risk CRC Individuals | ||||
---|---|---|---|---|
Age to Begin Surveillance (Years) | Surveillance Interval (Years) | Surveillance Procedures | Reference | |
Inflammatory Bowel Diseases | ||||
6–8 after symptoms onset | 1–3–5 according to risk stratification | Colonoscopy | [15,78] | |
Hereditary Colorectal Cancer Syndrome | ||||
Lynch Syndrome | ||||
MLH1 | 20–25 | 1–2 a | Colonoscopy | [7] |
20–25 b | 1–2 | Colonoscopy | [79] | |
MSH2 | 20–25 | 1–2 | Colonoscopy | [7] |
20–25 b | 1–2 | Colonoscopy | [79] | |
MSH6 | 25–30 | 1–2 | Colonoscopy | [7] |
30–35 c | 1–3 | Colonoscopy | [79] | |
PSM2 | 25–30 | 1–2 | Colonoscopy | [7] |
30–35 c | 1–3 | Colonoscopy | [79] | |
Familial Adenomatous Polyposis | ||||
APC | 10–15 | 1–2 | Flexible RSS or Colonoscopy d | [7] |
10–15 | 1 | Colonoscopy | [79] |
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Brandaleone, L.; Dal Buono, A.; Gabbiadini, R.; Marcozzi, G.; Polverini, D.; Carvello, M.; Spinelli, A.; Hassan, C.; Repici, A.; Bezzio, C.; et al. Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies. Cancers 2024, 16, 2967. https://doi.org/10.3390/cancers16172967
Brandaleone L, Dal Buono A, Gabbiadini R, Marcozzi G, Polverini D, Carvello M, Spinelli A, Hassan C, Repici A, Bezzio C, et al. Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies. Cancers. 2024; 16(17):2967. https://doi.org/10.3390/cancers16172967
Chicago/Turabian StyleBrandaleone, Luca, Arianna Dal Buono, Roberto Gabbiadini, Giacomo Marcozzi, Davide Polverini, Michele Carvello, Antonino Spinelli, Cesare Hassan, Alessandro Repici, Cristina Bezzio, and et al. 2024. "Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies" Cancers 16, no. 17: 2967. https://doi.org/10.3390/cancers16172967