Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

OBJECTIVE: A subgroup of patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer. The distinction between patients with one or few polyps and patients with a syndrome can be difficult. A pathogenic germline mutation can be detected in a majority of HPS patients. This study investigates whether patients with one or few hamartomatous polyps could have a syndrome based on genetic screening of relevant genes. METHODS: We designed a gene panel including 26 hamartomatous polyposis-associated genes. Using targeted Next Generation Sequencing, DNA samples from 77 patients with 84 hamartomatous polyps were sequenced. The detected germline variants were classified into pathogenicity classes. RESULTS: We detected several germline variants, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4. Although some of the detected variants have been reported previously none could be definitely pathogenic or likely pathogenic. CONCLUSIONS: Our study points towards that genetic testing for the Hamartomatous Polyposis Syndromes in patients with one or few polyps does not improve diagnostics, however we illustrate that the clinical significance of genetic variants can be difficult to interpret. A family history of polyps, cancer, or extraintestinal findings or a minimum of 3-5 polyps seems to be relevant information to include before genetic testing.

Transanal completion proctectomy with close rectal dissection and ileal pouch-anal anastomosis for ulcerative colitis.

INTRODUCTION: Laparoscopic dissection in the pelvis is still a challenge. A transanal approach to rectal dissection allows better visualization during the dissection of the rectum and the creation of an anastomosis. Although initially used for patients with rectal cancer, the transanal approach may also have benefits in the surgical treatment of ulcerative colitis (UC). The aim of this study was to describe our initial experience with transanal completion proctectomy and ileal pouch-anal anastomosis for UC. METHODS: This study included all consecutive patients who underwent transanal completion proctectomy and ileal pouch-anal anastomosis for UC between September 2017 and February 2018. RESULTS: Eleven patients were included in the study; they had a median age of 30 years (range, 13-51 years). The median operative time was 285 min (range, 190-375 min). There were no intraoperative complications or conversions to open surgery. Postoperative complications occurred in only one patient (anastomotic leak), and the median length of hospital stay was 7 days (range, 5-37 days). CONCLUSION: Our initial experience with transanal completion proctectomy and ileal pouch-anal anastomosis shows promising results, demonstrating the feasibility of the transanal approach in patients with UC.

[Treatment of gastroduodenal obstruction with self-expanding stent]. / Behandling af gastroduodenal obstruktion med selvekspanderende stent.

Self-expanding metal stents are used in some centres as non-surgical palliation for malignant gastric outlet obstruction as an alternative to surgery. No randomized studies exist comparing these two treatment modalities. Descriptive series have shown high success rates of 82-100% for stent placement, and 75-100% of the patients experience relief of the vomiting and ability to eat semisolid to solid food. Reobstruction was seen in about 15% of the patients requiring a second stenting. Serious complications to the stenting procedure have been reported in case studies. It is recommended to perform randomized studies of stenting versus open and laparoscopic surgical bypass for malignant gastric outlet obstruction.

[Xanthogranulomatous pyelonephritis]. / Xantogranulomatøs pyelonephritis.

Xanthogranulomatous pyelonephritis is a rare disease probably caused by long-standing obstruction and secondary infection. We report a case in a 47-year-old woman with no previous history of renal stones. Preoperative diagnostic workout included ultrasonography, CT scan, and drainage. Nephrectomy was performed, and the patient's postoperative recovery was uneventful. The difficulties of correct preoperative diagnosis are discussed.

Hamartomatous polyposis syndromes: a review.

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.

[Laparoscopic rectum resection with salpingo-oophorectomy via a single incision]. / Laparoskopisk rectumresektion med salpingo-ooforektomi gennem en enkelt incision.

Single-Incision Laparoscopic Surgery (SILS) is an evolving alternative to conventional laparoscopic surgery. We present the case of a low anterior resection combined with left salpingo-oophorectomy performed as a SILS procedure. The patient was a 83-year-old woman, who had a T3N1 rectal cancer 10 cm from the anal verge and a 7 cm left-sided ovarian cyst. Perioperative data and oncological outcomes were comparable to those of conventional laparoscopic procedures. Use of the SILS procedure for pelvic surgery is feasible in carefully selected patients. Prospective comparative studies are needed in the future.