BACKGROUND: Patients with familial adenomatous polyposis (FAP) develop early colorectal adenomas and if left untreated, progression to cancer is an inevitable event. Prophylactic surgery does not prevent further development of cancer in the rectal remnant, rectal cuff in patients with ileal pouch anal anastomosis (IPAA) and even on the ileal mucosa of the pouch body. The aim of this review is to assess long-term rates of cancer and adenoma development in patients with FAP after prophylactic surgery and to summarise current recommendations for endoscopic management and surveillance of these patients.
METHODS: A systematic literature search of studies from January 1946 through to June 2023 was conducted using the PRISMA checklist. The electronic database PubMed was searched.
RESULTS: Fifty-four papers involving 5010 patients were reviewed. Cancer rate in the rectal remnant was 8.8-16.7% in the western population and 37% in the eastern population. The cumulative risk of cancer 30 years after surgery was 24%. Mortality due to cancer in the rectal remnant is 1.1-11.1% with a 5-year survival rate of 55%. The adenoma rate after primary IPAA was 9.4-85% with a cumulative risk of 85% 20 years after surgery and a cumulative risk of 12% for advanced adenomas 10 years after surgery. Cumulative risk for adenomas after ileorectal anastomosis (IRA) was 85% after 5 and 100% after 10 years. Adenomas developed more frequently after stapled (33.9-57%) compared to hand-sewn (0-33%) anastomosis. We identified reports of 45 cancers in patients after IPAA of which 30 were in the pouch body and 15 in the rectal cuff or at the anastomosis.
CONCLUSIONS: There was a significant incidence of cancer and adenomas in the rectal remnant and ileal pouch of FAP patients during the long-term follow-up. Regular endoscopic surveillance is recommended, not only in IRA patients, but also in pouch patients after proctocolectomy.

Adult pancreatoblastoma (PBL) is a rare pancreatic malignancy, with recent evidence suggesting a possible link to familial adenomatous polyposis (FAP). This study aims to review the latest evidence and explore a possible association between adult PBL and FAP.
Two independent literature reviews were conducted: (1) on PBL and FAP, and (2) on PBL in the adult population not diagnosed with FAP.
Out of 26 articles on PBL and FAP screened, 5 were selected for systematic review, including 1 additional case. We identified eight FAP-related PBL cases, with a median age of 40 (IQR: 34-50). Of these, seven (87%) occurred in adults. We found 65 cases of adult PBL not FAP-related; thus, 7 out of 65 cases (10.7%) of adult PBL reported in the literature are associated with a clinical diagnosis of FAP or were carriers of APC germline pathogenic variants (GPVs).
Data suggest a non-random association between adult PBL and FAP. Further research is essential to optimise surveillance protocols and develop more effective treatment strategies.

BACKGROUND: Since cancer development is inevitable in patients with familial adenomatous polyposis (FAP), we aimed to determine the incidence of incidental malignancy in prophylactic colectomy specimens.
METHODS: The files of patients who underwent prophylactic surgery for FAP between 2010 and 2020 were retrospectively reviewed. The incidence of incidental malignancy in histopathological specimens was examined and a comprehensive literature review was made.
RESULTS: Fifty-five patients were included in the study, of whom 30 patients had a diagnosis of primary malignancy. Prophylactic colectomy was performed on 25 patients. The pathology results indicated that the specimens were benign in 12 patients (48%) and revealed carcinoma in situ in 11 patients (44%). Incidental malignancy was detected in 2 patients (8%). In the literature review, there were 243 patients who underwent prophylactic colectomy and incidental cancer was detected in 25 patients (10.3%) with the stages of 1 (7.4%), 2 (2.1%), and 3 (0.8%), respectively.
CONCLUSIONS: Incidental cancer is not rare in patients who have undergone prophylactic colectomy for FAP. Hopefully. they are usually at early stages and unexpected advanced cancers are seen rarely.

BACKGROUND: Germline mutations in the APC gene located on chromosome 5q 21-22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. As a rare extracolonic manifestation, thyroid cancer is diagnosed in about 2.6% of FAP patients. The genotype-phenotype correlation in FAP patients with thyroid cancer remains unclear.
METHODS: We present a 20-year-old female of FAP with thyroid cancer as the initial manifestation. The patient was asymptomatic and developed colon cancer liver metastases 2 years after the diagnosis of thyroid cancer. The patient underwent multiple surgical treatments in several organs, and regular colonoscopy with endoscopic polypectomy was performed. Genetic testing demonstrated the c.2929delG (p.Gly977Valfs*3) variant in exon 15 of the APC gene. This represents a previously undescribed APC mutation. This mutation causes loss of multiple structures on the APC gene including the 20-amino acid repeats, the EB1 binding domain, and the HDLG binding site, which may be pathogenic through β-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation.
CONCLUSIONS: We report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and review APC germline mutations in patients with FAP-associated thyroid cancer.

Gardner\'s syndrome (GS) is a combination of polyposis, osteomas, fibromas, and sebaceous cysts. The aim of the study is to highlight whether maxillofacial osteoma could represent an early detection symptom of GS. Patients with suspected osteoma of the jaw underwent genetic and radiographical examinations. The database gathered 19 patients with oral osteoma that was histologically diagnosed; the whole sample was positive for APC gene mutation. Other cranial and peripheral locations were reported. Osteoma of the jaw is a crucial predictive factor of GS, and dentists and oral and maxillofacial surgeons must be aware of the importance of a timely diagnosis.

Familial adenomatous polyposis (FAP) is an autosomal inheritance disease characterized by 100 or more adenomatous polyps in the colon and rectum with a high risk of developing colorectal carcinoma (CRC). The management of this disease is based on early screening and timely follow up, with subsequent planning of risk-reducing or therapeutic surgeries. We present a case of a patient with a strong family history of FAP with a \"de novo\" diagnosis of CRC. Furthermore, a literature discussion of current and future perspectives of treatment is performed.

Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) has become standard surgical treatment of choice in patients with ulcerative colitis (UC) and familial adenomatous polyposis (FAP) in which the medical management fails. Despite the wide use of laparoscopic method, the enhanced and innovative features that come with the robotic platform, such as endo-wrist technology, 3D visualization, surgeon-controlled camera and motion scaling, make it an appealing choice. This study aims to investigate the feasibility and safety of robotic approach for proctectomy or proctocolectomy with IPAA as compared to conventional laparoscopic approach. A systematic review was completed for studies done between 2010 and 2022 comparing the robotic approach with the laparoscopic approach. Nine studies were found to be feasible to be included in this review. In terms of the outcomes, although the mean operating time was slightly higher than the laparoscopic approach, the other outcomes, such as mean blood loss, return of the bowel movement, mean hospital stay, and conversion to open, were found to be significantly lower in the robotic approach as compared to both laparoscopic and conventional open techniques. Despite the overall increased rate of complications combined from all the studies, the rate of significant complications such as anastomotic leaks requiring readmission and return to theater was also found to be substantially less. This study concludes that although robotic approach is in its initial stages for pelvic surgeries, it can be safely employed due to improved dexterity and visibility.

UNASSIGNED: Robotic surgery has been progressively implemented for colorectal procedures but is still limited for multiquadrant abdominal resections. The present study aims to describe our experience in robotic multiquadrant colorectal surgeries and provide a systematic review and meta-analysis of the literature investigating the outcomes of robotic total proctocolectomy (TPC), total colectomy (TC), subtotal colectomy (STC), or completion proctectomy (CP) compared to laparoscopy.
UNASSIGNED: At our institution 16 consecutive patients underwent a 2- or 3-stage totally robotic total proctocolectomy (TPC) with ileal pouch-anal anastomosis. A systematic review of the literature was performed to select studies on robotic and laparoscopic multiquadrant colorectal procedures. Meta-analyses were used to compare the two approaches.
UNASSIGNED: In our case series, 14/16 patients underwent a 2-stage robotic TPC for ulcerative colitis with a mean operative time of 271.42 (SD:37.95) minutes. No conversion occurred. Two patients developed postoperative complications. The mean hospital stay was 8.28 (SD:1.47) days with no readmissions. Mortality was nil. All patients underwent loop-ileostomy closure, and functional outcomes were satisfactory. The literature appraisal was based on 23 retrospective studies, including 736 robotic and 9,904 laparoscopic multiquadrant surgeries. In the robotic group, 36 patients underwent STC, 371 TC, 166 TPC, and 163 CP. Pooled data analysis showed that robotic TC and STC had a lower conversion rate (OR = 0.17;95% CI, 0.04-0.82; p = 0.03) than laparoscopic TC and STC. The robotic approach was associated with longer operative time for TC and STC (MD = 104.64;95% CI, 18.42-190.87; p = 0.02) and TPC and CP (MD = 38.8;95% CI, 18.7-59.06; p = 0.0002), with no differences for postoperative complications and hospital stay. Reports on urological outcomes, sexual dysfunction, and quality of life were missing.
UNASSIGNED: Our experience and the literature suggest that robotic multiquadrant colorectal surgery is safe and effective, with low morbidity and mortality rates. Nevertheless, the overall level of evidence is low, and functional outcomes of robotic approach remain largely unknown.
UNASSIGNED: https://www.crd.york.ac.uk/prospero/, identifier: CRD42022303016.

Restorative proctocolectomy results in the formation of a pouch that adapts to a more colonic phenotype. The incidence of cancer of the pouch is thought to be low with most societal guidelines differing on their recommendations for surveillance.
We conducted a systematic review with meta-analysis to report the incidence of cancer in all pouch patients.
The Embase, Embase classic and PubMed databases were searched between June 1979- June 2021. A random effects model was performed to find the pooled incidence of pouch cancer. In addition, we also looked for risk factors for pouch cancers.
Forty-six studies were included. In 19,964 patients with Ulcerative Colitis (UC) the pooled incidence of pouch cancer was 0.0030 (95% CI: 0.0016 -0.0055). In 3741 patients with Familial Adenomatous Polyposis (FAP) the pooled incidence of pouch cancer was 0.01 (95% CI: 0.01 - 0.02). In UC most pouch cancers were found to occur in the pouch body (0.59 (95% CI: 0.29-0.84)).
The findings suggest that the pooled incidence of pouch cancer in UC is similar to that which was previously published, and this is the first meta-analysis to report a pooled incidence for pouch cancer in FAP.

Familial adenomatous polyposis (FAP) with protein-losing enteropathy is a rare disorder and is difficult to treat medically. A 74-year-old female patient was referred to our hospital with a chief complaint of anorexia. Lower gastrointestinal endoscopy showed multiple adenomas from the ascending colon to the rectum and adenocarcinoma in the sigmoid colon and descending colon. Laboratory findings showed hypoalbuminemia (albumin 1.6 mg/dl). Protein leak scintigraphy using 99mTc-HSAD found a protein leak from the colon. Although hypercaloric infusion was administered, the nutritional status was not improved and albumin transfusion was required. The patient underwent laparoscopic total proctocolectomy, ileal pouch-anal anastomosis, and temporary ileostomy. She had a good postoperative course and the hypoalbuminemia normalized in a few weeks. The patient underwent temporary ileostomy reversal. Here we report a case of FAP with protein-losing enteropathy who underwent laparoscopic total proctocolectomy, which resulted in improvement of the protein leak as well as cancer treatment.