Melaena with Peutz-Jeghers syndrome: a case report

Introduction: Peutz-Jeghers syndrome (PJS) is a rare familial disorder characterised by mucocutaneous pigmentation, gastrointestinal and extragastrointestinal hamartomatous polyps and an increased risk of malignancy. Peutz-Jeghers polyps in the bowel may result in intussusception. This complication usually manifests with abdominal pain and signs of intestinal obstruction. Case Presentation: We report the case of a 24-year-old Caucasian male who presented with melaena. Pigmentation of the buccal mucosa was noted but he was pain-free and examination of the abdomen was unremarkable. Upper gastrointestinal endoscopy revealed multiple polyps. An urgent abdominal computed tomography (CT) scan revealed multiple small bowel intussusceptions. Laparotomy was undertaken on our patient, reducing the intussusceptions and removing the polyps by enterotomies. Bowel resection was not needed. Conclusion: Melaena in PJS needs to be urgently investigated through a CT scan even in the absence of abdominal pain and when clinical examination of the abdomen shows normal findings. Although rare, the underlying cause could be intussusception, which if missed could result in grave consequences

Impact of microsatellite status in early-onset colonic cancer

Background The molecular profile of early-onset colonic cancer is undefined. This study evaluated clinicopathological features and oncological outcomes of young patients with colonic cancer according to microsatellite status. Methods Anonymized data from an international collaboration were analysed. Criteria for inclusion were patients younger than 50 years diagnosed with stage I-III colonic cancer that was surgically resected. Clinicopathological features, microsatellite status, and disease-specific outcomes were evaluated. Results A total of 650 patients fulfilled the criteria for inclusion. Microsatellite instability (MSI) was identified in 170 (26.2 per cent), whereas 480 had microsatellite-stable (MSS) tumours (relative risk of MSI 2.5 compared with older patients). MSI was associated with a family history of colorectal cancer and lesions in the proximal colon. The proportions with pathological node-positive disease (45.9 versus 45.6 per cent; P = 1.000) and tumour budding (20.3 versus 20.5 per cent; P = 1.000) were similar in the two groups. Patients with MSI tumours were more likely to have BRAF (22.5 versus 6.9 per cent; P < 0.001) and KRAS (40.0 versus 24.2 per cent; P = 0.006) mutations, and a hereditary cancer syndrome (30.0 versus 5.0 per cent; P < 0.001; relative risk 6). Five-year disease-free survival rates in the MSI group were 95.0, 92.0, and 80.0 per cent for patients with stage I, II, and III tumours, compared with 88.0, 88.0, and 65.0 per cent in the MSS group (P = 0.753, P = 0.487, and P = 0.105 respectively). Conclusion Patients with early-onset colonic cancer have a high risk of MSI and defined genetic conditions. Those with MSI tumours have more adverse pathology (budding, KRAS/BRAF mutations, and nodal metastases) than older patients with MSI cancers. Data on 650 patients aged less than 50 years diagnosed with stage I-III colonic cancer and undergoing surgery with curative intent were collected, and the impact of microsatellite instability (MSI) on clinicopathological features and disease-specific outcomes was assessed. Patients with early-onset disease had a high risk of MSI and defined genetic conditions. Those with MSI tumours had more adverse pathology (budding, KRAS/BRAF mutations, and nodal metastases) than older patients with MSI cancers

Idiopathic adult intussusception

Intussusception is an uncommon cause of abdominal pain in adults and poses diagnostic challenges for emergency physicians, due to its varied presenting symptoms and time course. Diagnosis is thus often delayed and results in surgical intervention due to the development of bowel ischaemia. We report on a young patient who presented with an ileo-ileal intussusception in whom there were no underlying lesions identified as a causal factor

A comparison of surgical devices for grade II and III hemorrhoidal disease. Results from the LigaLongo Trial comparing transanal Doppler-guided hemorrhoidal artery ligation with mucopexy and circular stapled hemorrhoidopexy

PURPOSE: Little is presently known on the impact of device type for Doppler-guided hemorrhoidal artery ligation/mucopexy (DGHAL) or circular stapled hemorrhoidopexy (CSH) when a surgical treatment is considered for hemorrhoidal disease (HD). In this study, we aimed to compare the outcome in terms of adverse events and recurrence rate, of patients included in the multicenter LigaLongo RCT ( ClinicalTrials.gov NCT01240772) according to the type of devices used. METHODS: In the DGHAL arm (N = 193), the procedure was done with transanal hemorrhoidal dearterialization (THD)™ (THD, Correggio, Italy) (104 patients) and with HAL-RAR™ (Agency for Medical Innovations (AMI) GmbH, Feldkirch, Austria) (89 patients). In the CSH arm (N = 184), procedure for prolapse and hemorrhoids (PPH)-03™ (Ethicon Endo-Surgery, Cincinnati OH) and hemorrhoidopexy and prolapse (HEM)™ (Covidien, Inc.) staplers were used in respectively 106 and 78 cases. Surgery-related morbidity at 90 postoperative days (POD) based on the Clavien-Dindo procedure-related complication score and clinical outcome in terms of recurrence and reoperation rate at 12 postoperative months (POM) was collected. RESULTS: Three hundred and seventy-seven patients were randomized according to HD grade. In the DGHAL arm, the number of ligations and mucopexies was higher in the AMI group (p &lt; 0.0001); at 90 POD, the overall morbidity was similar between the two groups. In the CSH arm, donut sizes were similar; at 90 POD, the PPH group had a higher risk of postoperative grade 1 morbidity (anal urgency or incontinence) compared to the HEM group (p = 0.003). At 12 POM, no statistical difference was found between the two groups of each arm in terms of grade III recurrence or reoperation. CONCLUSION: Postoperative morbidity and outcome at 1 year were similar regardless of the type of devices used. These findings suggest that device type has little impact on HD treatment results. TRIAL REGISTRATION: clinicaltrials.gov -Identifier NCT01240772

Ileal Intussusception Caused by Vanek's Tumor: A Case Report

Inflammatory fibroid polyps (Vanek's tumor) are rare benign localized lesions originating in the submucosa of the gastrointestinal tract. Intussusceptions due to inflammatory fibroid polyps are uncommon; moreover, ileo-ileal intussusception with small bowel necrosis and perforation has rarely been reported. We report a 56-year-old woman who was admitted two days after complaints of nausea and vomiting. Abdominal examination revealed distension, signs of gastrointestinal perforation and clanging intestinal sounds. The patient underwent a emergency laparotomy which found a 17-cm invaginated mid-ileal segment with necrosis, perforation and fecal peritonitis. The ileal segment was resected and single-layer end-to-end anastomosis was performed. Histopathological analysis showed an ulcerative lesion with variable cellularity, formed by spindle cells with small number of mitosis and an abundant inflammatory infiltrate comprising mainly eosinophils. Immunohistochemistry confirmed the diagnosis of ileal Vanek's tumor. Although inflammatory fibroid polyps are seen very rarely in adults, they are among the probable diagnoses that should be considered in obstructive tumors of the small bowel causing intussusception with intestinal necrosis and perforation

Characteristics of Early-Onset vs Late-Onset Colorectal Cancer: A Review.

The incidence of early-onset colorectal cancer (younger than 50 years) is rising globally, the reasons for which are unclear. It appears to represent a unique disease process with different clinical, pathological, and molecular characteristics compared with late-onset colorectal cancer. Data on oncological outcomes are limited, and sensitivity to conventional neoadjuvant and adjuvant therapy regimens appear to be unknown. The purpose of this review is to summarize the available literature on early-onset colorectal cancer. Within the next decade, it is estimated that 1 in 10 colon cancers and 1 in 4 rectal cancers will be diagnosed in adults younger than 50 years. Potential risk factors include a Westernized diet, obesity, antibiotic usage, and alterations in the gut microbiome. Although genetic predisposition plays a role, most cases are sporadic. The full spectrum of germline and somatic sequence variations implicated remains unknown. Younger patients typically present with descending colonic or rectal cancer, advanced disease stage, and unfavorable histopathological features. Despite being more likely to receive neoadjuvant and adjuvant therapy, patients with early-onset disease demonstrate comparable oncological outcomes with their older counterparts. The clinicopathological features, underlying molecular profiles, and drivers of early-onset colorectal cancer differ from those of late-onset disease. Standardized, age-specific preventive, screening, diagnostic, and therapeutic strategies are required to optimize outcomes

Post-Operative Functional Outcomes in Early Age Onset Rectal Cancer

Background: Impairment of bowel, urogenital and fertility-related function in patients treated for rectal cancer is common. While the rate of rectal cancer in the young (&lt;50 years) is rising, there is little data on functional outcomes in this group. Methods: The REACCT international collaborative database was reviewed and data on eligible patients analysed. Inclusion criteria comprised patients with a histologically confirmed rectal cancer, &lt;50 years of age at time of diagnosis and with documented follow-up including functional outcomes. Results: A total of 1428 (n=1428) patients met the eligibility criteria and were included in the final analysis. Metastatic disease was present at diagnosis in 13%. Of these, 40% received neoadjuvant therapy and 50% adjuvant chemotherapy. The incidence of post-operative major morbidity was 10%. A defunctioning stoma was placed for 621 patients (43%); 534 of these proceeded to elective restoration of bowel continuity. The median follow-up time was 42 months. Of this cohort, a total of 415 (29%) reported persistent impairment of functional outcomes, the most frequent of which was bowel dysfunction (16%), followed by bladder dysfunction (7%), sexual dysfunction (4.5%) and infertility (1%). Conclusion: A substantial proportion of patients with early-onset rectal cancer who undergo surgery report persistent impairment of functional status. Patients should be involved in the discussion regarding their treatment options and potential impact on quality of life. Functional outcomes should be routinely recorded as part of follow up alongside oncological parameters