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Steele SR, Hull TL, Hyman N, et al. The ASCRS Textbook of Colon and Rectal Surgery: 4th edition. Springer Nature; 2023.
Galandiuk S, Netz U, Morpurgo E, et al. Chapter 52: Colon and Rectum. Sabiston Textbook of Surgery. 21st edition. Elsevier; 2021: 1365-1369.
Hassan C, Antonelli G, Dumonceau J, et al. Post-polypectomy colonoscopy surveillance: European society of gastrointestinal endoscopy (ESGE) guideline – update 2020. Endoscopy. 2020 Aug;52(8), 687-700. PMID: 32572858.
Gupta S, Lieberman D, Anderson J. C., et al. Recommendations for follow-up after colonoscopy and polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2020 Mar;91(3):463-485.e5. PMID: 32044106; PMCID: PMC7389642.
Dubé C, McCurdy T, Pollett A, et al. Colon Cancer Check Recommendations for Post-Polypectomy Surveillance. Cancer Care Ontario; 2019: 1-46.
Hayashi N, Tanaka S, Hewett DG, et al. Endoscopic Prediction of Deep Submucosal Invasive Carcinoma: Validation of the Narrow-Band Imaging International Colorectal Endoscopic (NICE) Classification. Gastrointest Endoscopy. 2013 Oct; 78(4): 625-632. PMID: 23910062.
Tanaka S, Oka S, Hirata M, et al. Pit pattern diagnosis for colorectal neoplasia using narrow band imaging magnification. Digestive Endoscopy. 06 July 2006; 18(s1): S52-S56.
DefinitionTop
Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]) is the most common hereditary colon cancer syndrome. It is inherited in an autosomal dominant pattern and caused by a mutation of one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS1, PMS2) or the EPCAM gene.
Colorectal cancer in Lynch syndrome usually develops in the right part of the colon (the risk of occurrence is 70%-80% throughout a patient’s lifetime). Moreover, it is also associated with the risk of developing cancers of the endometrium (30%-60%), ovary, stomach, small intestine (3%-5%), and pancreas, as well as transitional cell carcinoma of the ureters and renal pelvis.
DiagnosisTop
The diagnosis of Lynch syndrome requires confirmation of the MMR gene mutation. Genetic tests should be performed in adult relatives of patients with diagnosed Lynch syndrome and in people who meet the clinical criteria for suspecting this syndrome (ie, Amsterdam II criteria: ≥3 relatives with histologically confirmed colorectal cancer or other neoplasm falling within the scope of Lynch syndrome [including ≥1 first-degree relative]; cancer occurring in ≥2 generations of the same family; ≥1 occurrence at an age <50 years; exclusion of familial adenomatous polyposis. If a patient has an MLH1 mutation, they must subsequently undergo BRAF testing, as BRAF mutations can drive MLH1 mutations, in which case colon cancer is not associated with Lynch syndrome but is rather sporadic (this has important implications for treatment).
TreatmentTop
The occurrence of colorectal cancer associated with Lynch syndrome is an indication for total abdominal colectomy (due to an increased risk of metachronous [independent] colon cancer) with ileorectal anastomosis and annual endoscopic evaluation of the rectum. In the case of microsatellite instability, which is a characteristic genetic feature of Lynch syndrome, immunotherapy (nivolumab, pembrolizumab) can be used either in the neoadjuvant setting (for locally advanced disease [ie, T4 stage]) or, more commonly, in the adjuvant setting.
SurveillanceTop
Colonoscopy should be performed every 2 years (or immediately if symptoms are present), starting from the age of 20 to 25 years (depending on the mutation found); in women aged 20 to 25 years, the annual evaluation of serum cancer antigen (CA)-125 concentration and gynecologic examination with transvaginal ultrasonography of the reproductive organ and biopsy of the uterine mucosa are recommended. As part of cancer prevention, consideration should be given to hysterectomy with oophorectomy in women aged >40 years with a confirmed mutation who are not planning pregnancy.
