Clinical and Pathological Characterization of Lynch-Like Syndrome.

BACKGROUND & AIMS: Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins-this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features. METHODS: We collected data from a nationwide-registry of patients with colorectal cancer (CRC) in Spain. We identified patients whose colorectal tumors had loss of MSH2, MSH6, PMS2, or MLH1 (based on immunohistochemistry), without the mutation encoding V600E in BRAF (detected by real-time PCR), and/or no methylation at MLH1 (determined by methylation-specific multiplex ligation-dependent probe amplification), and no pathogenic mutations in MMR genes, BRAF, or EPCAM (determined by DNA sequencing). These patients were considered to have LLS. We collected data on demographic, clinical, and pathology features and family history of neoplasms. The χ2 test was used to analyze the association between qualitative variables, followed by the Fisher exact test and the Student t test or the Mann-Whitney test for quantitative variables. RESULTS: We identified 160 patients with LLS; their mean age at diagnosis of CRC was 55 years and 66 patients were female (41%). The Amsterdam I and II criteria for Lynch syndrome were fulfilled by 11% of cases and the revised Bethesda guideline criteria by 65% of cases. Of the patients with LLS, 24% were identified in universal screening. There were no proportional differences in sex, indication for colonoscopy, immunohistochemistry, pathology findings, or personal history of CRC or other Lynch syndrome-related tumors between patients who met the Amsterdam and/or Bethesda criteria for Lynch syndrome and patients identified in universal screening for Lynch syndrome, without a family history of CRC. CONCLUSIONS: Patients with LLS have homogeneous clinical, demographic, and pathology characteristics, regardless of family history of CRC.

Evaluation of the short- and long-term effectiveness and safety of fully covered self-expandable metal stents for drainage of pancreatic fluid collections: results of a Spanish nationwide registry.

BACKGROUND AND AIMS: Initial reports suggest that fully covered self-expandable metal stents (FCSEMSs) may be better suited for drainage of dense pancreatic fluid collections (PFCs), such as walled-off pancreatic necrosis. The primary aim was to analyze the effectiveness and safety of FCSEMSs for drainage of different types of PFCs in a large cohort. The secondary aim was to investigate which type of FCSEMS is superior. METHODS: This was a retrospective, noncomparative review of a nationwide database involving all hospitals in Spain performing EUS-guided PFC drainage. From April 2008 to August 2013, all patients undergoing PFC drainage with an FCSEMS were included in a database. The main outcome measurements were technical success, short-term (2 weeks) and long-term (6 months) effectiveness, adverse events, and need for surgery. RESULTS: The study included 211 patients (pseudocyst/walled-off pancreatic necrosis, 53%/47%). The FCSEMSs used were straight biliary (66%) or lumen-apposing (34%). Technical success was achieved in 97% of patients (95% confidence interval [CI], 93%-99%). Short-term- and long-term clinical success was obtained in 94% (95% CI, 89%-97%) and 85% (95% CI, 79%-89%) of patients, respectively. Adverse events occurred in 21% of patients (95% CI, 16%-27%): infection (11%), bleeding (7%), and stent migration and/or perforation (3%). By multivariate analysis, patient age (>58 years) and previous failed drainage were the most important factors associated with negative outcome. CONCLUSIONS: An FCSEMS is effective and safe for PFC drainage. Older patients with a history of unsuccessful drainage are more likely to fail EUS-guided drainage. The type of FCSEMS does not seem to influence patient outcome.

Flexible single-incision surgery: a fusion technique.

INTRODUCTION: The development of natural orifice transluminal endoscopic surgery has led to other techniques, such as single-incision surgery. The use of the flexible endoscope for single-incision surgery paves the way for further refinement of both surgical methods. OBJECTIVE: To describe a new, single-incision surgical technique, namely, flexible single-incision surgery. PATIENTS AND METHODS: Assessment of the safety and effectiveness of endoscopic cholecystectomy in a series of 30 patients. This technique consists of a single umbilical incision through which a flexible endoscope is introduced and consists of 2 parallel entry ports that provide access to nonarticulated laparoscopic instruments. RESULTS: The technique was applied in all patients for whom it was prescribed. No general or surgical wound complications were noted. Surgical time was no longer than usual for single-port surgery. CONCLUSIONS: Flexible single-incision surgery is a new single-site surgical technique offering the same level of patient safety, with additional advantages for the surgeon at minimal cost.

Prospective randomized clinical trial comparing laparoscopic cholecystectomy and hybrid natural orifice transluminal endoscopic surgery (NOTES) (NCT00835250).

BACKGROUND AND STUDY AIMS: Natural orifice transluminal endoscopic surgery (NOTES) is a technique still in experimental development whose safety and effectiveness call for assessment through clinical trials. In this paper we present a three-arm, noninferiority, prospective randomized clinical trial of 1 year duration comparing the vaginal and transumbilical approaches for transluminal endoscopic surgery with the conventional laparoscopic approach for elective cholecystectomy. PATIENTS AND METHODS: Sixty female patients between the ages of 18 and 65 years who were eligible for elective cholecystectomy were randomized in a ratio of 1:1:1 to receive hybrid transvaginal NOTES (TV group), hybrid transumbilical NOTES (TU group) or conventional laparoscopy (CL group). The main study variable was parietal complications (wound infection, bleeding, and eventration). The analysis was by intention to treat, and losses were not replaced. RESULTS: Cholecystectomy was successfully performed on 94% of the patients. One patient in the TU group was reconverted to CL owing to difficulty in maneuvering the endoscope. After a minimum follow-up period of 1 year, no differences were noted in the rate of parietal complications. Postoperative pain, length of hospital stay, and time off from work were similar in the three groups. No patient developed dyspareunia. Surgical time was longer among cases in which a flexible endoscope was used (CL, 47.04 min; TV, 64.85 min; TU, 59.80 min). CONCLUSIONS: NOTES approaches using the flexible endoscope are not inferior in safety or effectiveness to conventional laparoscopy. The transumbilical approach with flexible endoscope is as effective and safe as the transvaginal approach and is a promising, single-incision approach.

Hybrid natural orifice transluminal endoscopic cholecystectomy: prospective human series.

BACKGROUND: Natural orifice transluminal endoscopic surgery (NOTES) makes it possible to perform intraperitoneal surgical procedures with a minimal number of access points in the abdominal wall. Currently, it is not possible to perform these interventions without the help of abdominal wall entryways, so these procedures are hybrids fusing minilaparoscopy and transluminal endoscopic surgery. This report presents a prospective clinical series of 25 patients who underwent transvaginal hybrid cholecystectomy for cholelithiasis. METHODS: The study comprised a clinical series of 25 consecutive nonrandomized women who underwent a fusion transvaginal NOTES and minilaparoscopy procedure with two trocars for cholelithiasis: one 5-mm umbilical trocar and one 3-mm trocar in the upper left quadrant. The study had no control group. RESULTS: The scheduled surgical intervention was performed for all 25 women. No intraoperative complications occurred. One patient had mild hematuria that resolved in less than 12 h, but no other complications occurred during an average follow-up period of 140 days. Of the 25 women, 20 were discharged in 24 h, and 5 were discharged less than 12 h after the procedure. CONCLUSION: Hybrid transvaginal cholecystectomy, combining NOTES and minilaparoscopy, is a good surgical model for minimally invasive surgery. It can be performed in surgical settings where laparoscopy is practiced regularly using the instruments normally used for endoscopy and laparoscopic surgery. Due to the reproducibility of the intervention and the ease of vaginal closure, hybrid transvaginal cholecystectomy will permit further development of NOTES in the future.

Antral localization worsens the efficacy of enteral stents in malignant digestive tumors.

BACKGROUND AND AIMS: Malignant gastric outlet obstruction can be treated by means of enteral stenting or surgical gastrojejunalanatomosis. We evaluated in a prospective and multicentre study the efficacy of the enteral stent on food intake, the quality of life impact, and the relationship between efficacy and determined clinical and technical parameters. PATIENTS AND METHODS: Seventy one patients affected by symptoms arising from gastroduodenal obstruction due to malignant tumors, with criteria of irresecability, metastatic disease or very high surgical risk, were treated by means of self expanding metal stents. We used the GOOSS index to evaluate efficacy, and the Euro Qol-5D index to evaluate quality of life. RESULTS: Before stenting patients with GOOSS 0 and 1 were 68 (98.5%). After stenting patients with GOOSS 2 and 3 (semisolid and solid food) were 58 (84,1%) (P<.0001). The Euro Qol-5D index measured before and a month after stenting were 10.17 and 10.04 respectively (P=.6). The median survival was 91 days (9-552). The enteral stents for localised tumors in the duodenum and the gastrojejunalanastomosis were effective in 26 patients (70.2%) and 13 patients respectively (86.6%), while the enteral stents of tumors in the antrum were effective in only 5 patients (29.4%). CONCLUSIONS: The palliative treatment of malignant gastric outlet obstruction with a uncovered metal stent produces a significant improvement of oral food intake and maintains the overall quality of life index. The antral localization is associated with a lower efficacy of the procedure.

Hybrid transvaginal cholecystectomy, NOTES, and minilaparoscopy: analysis of a prospective clinical series.

INTRODUCTION: Natural orifice transluminal endoscopic surgery (NOTES) makes it possible to perform intraperitoneal surgical procedures with a minimal number of access points in the abdominal wall. It is not yet possible to perform these interventions without the help of abdominal wall entryways, so these procedures are hybrids, a fusion of minilaparoscopy and transluminal endoscopic surgery. In this paper we present a prospective clinical series of 15 patients who underwent transvaginal hybrid cholecystectomy for cholelithiasis. METHODS: This was a prospective clinical series of 15 consecutive female patients, nonrandomly chosen and without a control group, who underwent a fusion transvaginal NOTES and minilaparoscopy procedure with two entryways for cholelithiasis. One was umbilical and measured 5 mm in diameter, and the other was in the right upper quadrant and measured 3 mm in diameter. RESULTS: The scheduled surgical intervention was performed on the 15 patients in whom it had been indicated. There were no intraoperative complications. One patient had mild hematuria that resolved in less than 12 h; there were no other complications after average follow-up of 124 days. Nine patients were discharged in 24 h, and two were discharged less than 12 h after the procedure. DISCUSSION: Hybrid transvaginal cholecystectomy is a good surgical model for minimally invasive surgery, a combination of NOTES and minilaparoscopy. It can be performed in surgical settings where laparoscopy is practised regularly, using the instruments normally used for endoscopy and laparoscopic surgery. Owing to the reproducibility of the intervention and the ease of vaginal closure, hybrid transvaginal cholecystectomy will permit further development of NOTES in the future.

Primary monophasic synovial sarcoma of the duodenum confirmed by cytogenetic analysis with demonstration of t(X;18): a case report.

Synovial sarcoma (SS) is an uncommon malignant neoplasm of the soft tissues. It mainly affects the periarticular tissues of the extremities in young adults, but has been described at nearly all sites; nevertheless, the gastrointestinal tract is an exceptional location. We report a case of a primary synovial sarcoma of the duodenum in a 69-year-old woman. Histological study showed a monophasic pattern. The tumor cells demonstrated diffuse vimentin and Bcl-2 expression, partial EMA expression and focal AE1/3 positivity. The differential diagnosis includes gastrointestinal stromal tumors. Cytogenetic analysis confirmed the diagnosis, with detection of the X;18 translocation. The patient presented postoperative complications and died one month following the intervention.

[Non-randomised, comparative, prospective study of transvaginal endoscopic cholecystectomy versus transparietal laparoscopic cholecystectomy]. / Estudio comparativo, prospectivo y no aleatorizado de la colecistectomía endoscópica transvaginal frente a la colecistectomía laparoscópica transparietal.

INTRODUCTION: We present a non-randomised comparative study of two patients series followed up prospectively, in which convention laparoscopic cholecystectomy is compared with transvaginal cholecystectomy, a hybrid transluminal endoscopic procedure, with the objective of assessing the clinical safety of the procedures and its efficacy in the resolution of cholelithiasis. PATIENTS AND METHOD: A non-randomised prospective clinical series of 40 female patients, operated on for cholelithiasis using endoscopic surgery, 20 with a conventional laparoscopic approach and 20 using a transvaginal endoscopic approach. Surgical wound infection, urinary infection, evisceration, eventration, mortality and other complications. RESULTS: Scheduled operations were performed on the 40 patients as indicated. There were no complications during the operations. There was no mortality associated with the procedures and there was only one post-surgical complication, a urinary tract infection in one patient operated on by the transvaginal approach. The mean follow up was the same in both groups (9 months). The mean hospital stay was less than 0.8 days in both groups. The duration of the surgery was longer in the transvaginal approach group, with a mean of 69.5 min, compared to 46.2 min in the laparoscopy group. CONCLUSIONS: Although the cosmetic benefit is obvious, no differences were found as regards parietal problems in this series. The duration of the transvaginal surgery is higher than that of the transparietal, but the times of both are acceptable. In this study, the non-inferiority in the safety and efficacy of the transvaginal approach is able to be assessed.

Drug-induced hepatitis superimposed on the presence of anti-SLA antibody: a case report.

INTRODUCTION: Autoimmune hepatitis is a necroinflammatory disorder of unknown etiology characterized by the presence of circulating antibodies, hypergammaglobulinemia, and response to immunosuppression. It has the histological features of chronic hepatitis. The onset is usually insidious, but in some patients the presentation may be acute and occasionally severe. Certain drugs can induce chronic hepatitis mimicking autoimmune hepatitis. Different autoantibodies have been associated with this process but they are not detectable after drug withdrawal and clinical resolution. CASE PRESENTATION: We describe a case of drug-induced acute hepatitis associated with antinuclear, antisoluble liver-pancreas and anti-smooth muscle autoantibodies in a 66-year-old woman. Abnormal clinical and biochemical parameters resolved after drug withdrawal, but six months later anti-soluble liver-pancreas antibodies remained positive and liver biopsy showed chronic hepatitis and septal fibrosis. Furthermore, our patient has a HLA genotype associated with autoimmune hepatitis. CONCLUSION: Patient follow-up will disclose whether our patient suffers from an autoimmune disease and if the presence of anti-soluble liver antigens could precede the development of an autoimmune hepatitis, as the presence of antimitochondrial antibodies can precede primary biliary cirrhosis.