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Fund af tarmpolypper ved endoskopiske undersøgelser er hyppige, idet man antager, at 30-50% af befolkningen har en eller flere polypper i tyktarmen efter 50-årsalderen [1]. Som oftest foretages der polypektomi, og patienten kontrolleres efterfølgende i overensstemmelse med gældende retningslinjer for de forskellige underliggende årsager/sygdomme. Polypperne kan dog være en manifestation af et arveligt polyposesyndrom, som er vigtigt at kende, da patienterne og deres familiemedlemmer har en høj risiko for udvikling af kræft i både gastrointestinalkanalen og andre organer. Nogle af syndromerne er også karakteriseret ved ekstraintestinale manifestationer. Behandling og opfølgning afhænger af det tilgrundliggende syndrom.

Hereditary polyposis syndromes (HPS) are a group of rare, inherited syndromes characterised by the presence of histopathological specific or numerous intestinal polyps and a high risk of intestinal and extraintestinal cancer. During the last decade, several new HPS have been discovered, as it is possible to detect pathogenic germline variants in genes not previously known to be associated with polyposis. This review summarises the current knowledge on the syndromes and discusses genetic testing as part of the diagnostic pipeline when suspecting a polyposis syndrome.

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that increases risk for colorectal cancer (CRC). We assessed changes in the incidence and prevalence of CRC, and survival times, of patients with FAP participating in the Danish follow-up study.We collected data from the Danish Polyposis Registry, a nationwide, complete registry of patients with FAP that includes clinical information, surgical procedures, follow-up findings, and pathology reports. We compared data between the periods of 1990-1999 and 2000-2017. In 2017, the registry contained 226 families with 721 individuals with FAP. Probands were defined as patients diagnosed based on bowel symptoms, without any knowledge of hereditary bowel disease. Call-up patients were defined as those found to have FAP during screening and due to a diagnosis of FAP in first-degree relatives.Although the mean incidence rate of FAP was stable from 1990-1999 (0.19/100,000/year) to 2000-2017 (0.32/100,000/year) (P = .91), the point prevalence increased from 4.86/100,000 in 1999 to 6.11/100,000 by the end of 2017 (P = .005). During 2000-2017, 25 of 72,218 CRC cases were associated with FAP (0.03%)-this was a significant decrease from 1990-1999 (26/30,005 cases; 0.09%) (P = .001). The risk of CRC was significantly higher for probands (n = 191; 61.6%) than call-up cases (n = 5; 1.9%) (P.001). All CRCs in call-up patients were detected at the diagnosis of FAP (no cases were identified in the follow-up program). The median life expectancy for call-up patients was 72.0 years (95% CI, 63.3-80.7), compared to 55.0 years for probands (95% CI, 51.2-58.8) (P.001). Therefore, the tracing and follow-up program increased life expectancy by 17.0 years for first-degree family members.The Danish Polyposis Registry enables close monitoring of patients with FAP, reducing risk of CRC and prolonging life.

BACKGROUND: Single-port access laparoscopic surgery is emerging as a method to improve the morbidity and cosmetic benefits of conventional laparoscopic surgery and minimize the surgical trauma. However, the feasibility of this procedure in rectal surgery has not yet been determined. OBJECTIVE: This study aimed to evaluate our initial experience using single-port access in laparoscopic rectal surgery. DESIGN: This investigation was designed as a prospective clinical study. SETTINGS: The study took place in a university hospital. PATIENTS: Ten patients with nonmetastatic rectal cancer underwent rectal resections. MAIN OUTCOME MEASURES: The main outcome measures are perioperative data including intraoperative and postoperative complications, pathological outcome, length of stay, and short-term follow-up. RESULTS: The median age of the patients was 67 (range, 49-83) and the median body mass index was 23.5 kg/m 2 (range, 20-25 kg/m 2 ). Six patients had previously had abdominal surgery. The operations were 6 low anterior resections (4 receiving diverting ileostomy), 2 anterior resections, 1 Hartmann procedure, and 1 abdominoperineal resection. The median operative time was 229 minutes (range, 185-318), and blood loss ranged from 0 to 100 mL. In 2 cases, it was necessary to add an extra 5-mm port to deal with intraoperative complications. The median hospital stay was 7 days (range, 4-14). There were no anastomotic leaks and no mortality. All of the resection margins were clear, and the circumferential resection margin was a median of 11 mm (range, 2.5-25). The median number of lymph nodes examined was 14 (range, 3-20). LIMITATIONS: This study's limitations include the lack of registration of postoperative pain, immunological parameters, and long-term clinical and oncological outcome. The small sample size makes it difficult to ascertain complication and conversion rates. CONCLUSIONS: Single-port access laparoscopic surgery for rectal cancer can be performed safely in slim patients with a small tumor. This technique can be an alternative option for selected patients in the hands of skilled laparoscopic surgeons. Prospective comparative studies are needed to determine the role for this technique approach in the future.

Background and Aims It is not possible to accurately count adenomas in many patients with familial adenomatous polyposis (FAP). Nevertheless, polyp counts are critical in evaluating each patient's response to interventions. However, the U.S. Food and Drug Administration no longer recognizes the decrease in polyp burden as a sufficient chemoprevention trial treatment endpoint requiring a measure of "clinical benefit." To develop endpoints for future industry-sponsored chemopreventive trials, the International Society for Gastrointestinal Hereditary Tumors (InSIGHT) developed an FAP staging and intervention classification scheme for lower-GI tract polyposis. Methods Twenty-four colonoscopy or sigmoidoscopy videos were reviewed by 26 clinicians familiar with diagnosis and treatment of FAP. The reviewers independently assigned a stage to a case by using the proposed system and chose a stage-specific intervention for each case. Our endpoint was the degree of concordance among reviewers staging and intervention assessments. Results The staging and intervention ratings of the 26 reviewers were highly concordant (ρ = 0.710; 95% credible interval, 0.651-0.759). Sixty-two percent of reviewers agreed on the FAP stage, and 90% of scores were within ±1 stage of the mode. Sixty percent of reviewers agreed on the intervention, and 86% chose an intervention within ±1 level of the mode. Conclusions The proposed FAP colon polyposis staging system and stage-specific intervention are based on a high degree of agreement on the part of experts in the review of individual cases of polyposis. Therefore, reliable and clinically relevant means for measuring trial outcomes can be developed. Outlier cases showing wide scatter in stage assignment call for individualized attention and may be inappropriate for enrollment in clinical trials for this reason.

A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma in the inflamed rectum stump. The malignant growth was surrounded by a filiform polyposis, grossly considered as pseudopolyps. The histology disclosed, however, a morphology corresponding to the recently described filiform subset of serrated adenoma (FSA). The clustering of the FSA amounted to a filiform serrated adenomatous polyposis, a hitherto unreported observation. It is speculated that neoplastic transformation of pre-existing pseudopolyps and prolaps-related events lead to this peculiar morphology. Minor zones with a villous structure were admixed as were small areas of traditional serrated adenoma and patches of flat dysplasia. Although a combined gastric and intestinal (positivity for MUC5AC, MUC2, MUC6, CDX2) immunoprofile characterized the adenomatous component, a downregulation of the gastric mucin along with a loss of the serrated attribute accompanied the malignant transformation. An added dynamic shift during the adenoma carcinoma sequence included the acquisition of CK7 expression in the malignant portion. Gastric mucin may play a role in the initial step of the neoplastic evolution and CK7 may denote neoplastic progression. This case confirms the notion of a widely variegated morphology of precursor lesions of colorectal carcinoma arising in a chronically inflamed bowel as opposed to the generally more monotonous appearance of adenomas in a sporadic context.

In order to throw light upon the eventual need for iodine supplementation in Denmark, four age groups of women (15, 30, 45 and 60 years) from the Holbaek municipality were invited for a clinical and ultrasound study of thyroid volume, structure and function. Of the 570 women invited, 391 accepted and were divided into the following groups: group I: 15 years, N = 113; group II: 30 years, N = 100; group III: 45 years, N = 98; group IV: 60 years, N = 80. The results were as follows the thyroid gland was palpable in 39% and visible in 16% of the entire group; 19% had a family history of thyroid disorders and 7.6% had a previous thyroid disorder. Thyroid volumes (median (range)) as measured by ultrasound were 12 ml (4-29 ml), 18 ml (5-47 ml), 18 ml (7-64 ml) and 18 ml (9-51 ml) in groups I-IV, respectively. The calculated 24-h iodine excretion was 65 micrograms (19-365 micrograms), 88 micrograms (15-274 micrograms), 97 micrograms (40-737 micrograms) and 83 micrograms (50-999 micrograms) in groups I-IV, respectively. An abnormal echo structure was present in 3, 10, 21 and 30%, respectively. Defining a goitre as a thyroid volume above 28 ml indicated a goitre prevalence of 17% in females aged 30-60 years in the Holbaek area of Denmark. Among the 60-year-old women, 3% had a clinically significant goitre (WHO grade III). Thyroid volume did not correlate with iodine excretion. The benefit of iodine supplementation is discussed.