Functional outcome after pouch-anal reconstruction with primary and secondary mucosectomy for patients with familial adenomatous polyposis (FAP).

INTRODUCTION: Restorative proctocolectomy and ileal pouch-anal reconstruction is the surgical standard for the majority of patients with familial adenomatous polyposis (FAP). The pouch-anal anastomosis may be performed handsewn after primary mucosectomy or by double stapling. Better functional results favour the latter; however, higher rates of remaining rectal mucosa with adenomas often necessitate secondary mucosectomy. Data on functional outcome after secondary mucosectomy is scarce. The aim of the study was to analyse whether patients who undergo secondary mucosectomy maintain their functional benefits compared to patients with primary mucosectomy. PATIENTS AND METHODS: Twenty patients after secondary mucosectomy and 31 patients after primary mucosectomy were compared with respect to their functional outcome, using the MSKCC score, the Wexner score and ano-rectal physiology testing. RESULTS: The MSKCC global score and the Wexner score showed a non-significant trend towards slightly better results after secondary mucosectomy (63.1 vs. 56.6, p = 0.0188 and 9.5 vs. 11, p = 0.3780). Patients after secondary mucosectomy also showed a tendency towards less bowel movements per 24 h (7 (range 4-11) vs. 8.5 (range 3-20), p = 0.1518). Resting pressures were slightly higher after secondary (44 vs. 39.6 mmHg, p = 0.4545) and squeeze pressures slightly higher after primary mucosectomy (87.6 vs. 81.2 mmHg, p = 0.6126). However, the results did not reach statistical significance. CONCLUSION: The results of this study cannot ultimately resolve the controversy concerning handsewn versus stapled ileal pouch-anal anastomosis. Our results suggest a trend towards better functional results after stapled anastomosis with secondary mucosectomy.

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.

We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the BRCA2 mutation only and another brother is supposed to have developed pancreatic cancer due to multiple non-genetic risk factors. We outline the impact of a double germline mutation in two tumor predisposition genes in one individual and proven heterogeneity of multiple cases of pancreatic tumors in one family. With the growing implementation of next generation sequence based panel testing for multiple genes involved in tumor predisposition syndromes, relevant variants in two (or more) genes will be found more frequently. This family illustrates the importance of family studies, especially when using gene panel tests.

Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports.

Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with APC gene mutations and therefore with familial adenomatous polyposis (FAP). So far there is only very limited literature on GF in the neonatal period. We present two children with GF diagnosed at birth and subsequent FAP with very different clinical courses. In one case, the disease led to extensive surgery of the thoracic wall and detection of FAP in the father with the need of immediate proctocolectomy. In the other patient (with a positive family history for FAP) the disease remained stable. Our cases indicate that the diagnosis of GF in the neonatal period requires the exclusion of FAP both in the child as well as the parents. Since the clinical behavior of GF cannot be predicted, continuous monitoring is mandatory. Depending on tumor site and growth, individual therapeutic options must be thoroughly considered. Surgical resection, if necessary, has to be inevitably total to prevent recurrence.

Residual rectal mucosa after stapled vs. handsewn ileal J-pouch-anal anastomosis in patients with familial adenomatous polyposis coli (FAP)--a critical issue.

INTRODUCTION: Restorative proctocolectomy has become the standard surgical procedure for familial adenomatous polyposis (FAP) patients. The use of stapler devices has initiated a controversial discussion concerning the ileal pouch-anal reconstruction. Some authors advocate a handsewn anastomosis after transanal mucosectomy. A double-stapled anastomosis leads to better functional results but seems to bear a higher risk of residual rectal mucosa with dysplasia and adenomas. The present study systematically analyses the rate of residual rectal mucosa after restorative proctocolectomy and handsewn vs. stapled anastomosis. PATIENTS AND METHODS: One hundred FAP patients after restorative proctocolectomy undergoing regular follow-up at our outpatient clinic were included in the study. Proctoscopy with standardised biopsy sampling was performed. RESULTS: Of the 100 patients, 50 had undergone a stapled and 50 a handsewn anastomosis. Median follow-up was 146.1 months (handsewn) vs. 44.8 months (stapled) (P < 0.0001). Eighty-seven patients received a proctoscopy with standardised biopsy sampling. Thirteen patients had been diagnosed with residual rectal mucosa before. Sixty-three patients (63 %) showed remaining rectal mucosa (42 (66.6 %) stapler, 21 (33.3 %) handsewn, P < 0.0001). Patients after stapled anastomosis had higher rates of circular rectal mucosa seams, while small mucosa islets predominated in the handsewn group. The rate of rectal adenomas was significantly higher in the stapler group (21 vs. 10, P = 0.02). CONCLUSION: Rectal mucosa, especially wide mucosa seams, as well as rectal adenomas are found significantly more often after a stapled than after a handsewn anastomosis. As the follow-up interval in the stapler group was significantly shorter, the impact of these findings may still be underestimated.