Gastrointestinal Polyps Research Articles

THU533 Cowden Syndrome: A Rare Disease With A Lasting Impact

Abstract Disclosure: C.S. Hastings: None. S.A. Patrick: None. D. James: None. Introduction: Cowden Syndrome (CS) is a genetic condition caused by an autosomal dominant mutation in the phosphatase and tensin homolog (PTEN) tumor suppressor gene. The prevalence of CS is approximately one in 200,000 and onset is typically in the second decade of life. It is characterized by multiple benign or malignant skin tumors, non-medullary thyroid cancer, breast carcinoma, endometrial carcinoma, gastrointestinal hamartomas, renal cell carcinoma, and/or developmental delay. CS is typically underdiagnosed due to the variety of phenotypic presentations. Case Description: We present a case series of Cowden Syndrome. The first patient was a 51-year-old male with follicular thyroid cancer status post radiation and thyroidectomy, multiple gastrointestinal polyps, trichilemmomas, and an extensive family history of cancer. These factors led to an increased suspicion for CS. The patient underwent genetic testing for PTEN mutations in 2022 and was heterozygous for the c.723dupT pathogenic PTEN mutation as well as p.S598L mutation. The second patient was an 18-year-old female with developmental delay, autoimmune hypothyroidism, multinodular goiter who presented with an increasing number of thyroid nodules on annual thyroid ultrasounds. Her thyroid nodule biopsy revealed follicular and papillary thyroid carcinoma requiring total thyroidectomy. Her mother had a known history of CS. Genetic testing revealed she was heterozygous for the p.S1701 pathogenic mutation in the PTEN gene. Diagnosis of CS involves a combination of family history, presence of mucocutaneous lesions, and either thyroid, breast, or endometrial carcinoma. Given the higher likelihood of cancers in these patients, routine screening for thyroid, breast, kidney, and colon cancers should begin at an earlier age. Treatment includes topical agents such as fluorouracil or excision surgery for skin lesions. Treatment of malignancy is similar to sporadic counterparts and involves systemic immunosuppressants, chemotherapy, or surgery. Conclusion: Cowden Syndrome is a rare genetic condition resulting in tumors in a variety of organ systems, placing patients at a higher risk of malignancy. A strong family history of malignancy, as well as skin, breast, GI, or thyroid findings should prompt further investigation. Collaboration between dermatology, oncology, gastroenterology, endocrinology, and neurology is essential for successful treatment. Routine screening for these patients includes thyroid studies every 3-4 months, thyroid ultrasound yearly, colonoscopy every two years, and renal CT or MRI yearly. Early diagnosis of the condition is pivotal for close cancer surveillance and management. Presentation: Thursday, June 15, 2023

Detection and Classification of Gastrointestinal Diseases by using Machine Learning: A Review

Currently, gastrointestinal diseases claim the lives of up to two million people worldwide. GI disease treatment can be challenging, time-consuming, and expensive. One of the most recent advancements in medical imaging is the use of video endoscopy to diagnose gastrointestinal illnesses such stomach ulcers, bleeding, and polyps. Doctors require a lot of time to review all the images produced by medical video endoscopy since there are so many of them. This makes manual diagnosis difficult and has encouraged research into computer-aided approaches to diagnose all of the generated images quickly and accurately. The innovative aspect of the suggested methodology is the creation of a system for the diagnosis of digestive disorders. Machine learning techniques have the potential to significantly lower the cost of examination procedures while increasing the accuracy and speed of diagnosis. This paper describes a method for classifying GI illnesses using machine learning techniques.

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia

BackgroundWNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype–phenotype analysis currently challenging.Case presentationWe present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature.ConclusionsAlthough the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations.

Endoscopic measurement of the size of gastrointestinal polyps using an electromagnetic tracking system and computer vision-based algorithm

PurposePolyp size is an important factor that may influence diagnosis and clinical management decision, but estimation by visual inspection during endoscopy is often difficult and subject to error. The purpose of this study is to develop a quantitative approach that enables an accurate and objective measurement of polyp size and to study the feasibility of the method.MethodsWe attempted to estimate polyp size and location relative to the gastro-oesophageal junction by integrating data from an electromagnetic tracking sensor and endoscopic images. This method is based on estimation of the three-dimensional coordinates of the borders of the polyp by combining the endoscope camera position and the corresponding points along the polyp border in endoscopic images using a computer vision-based algorithm. We evaluated the proposed method using a simulated upper gastrointestinal endoscopy model.ResultsThe difference between the mean of ten measurements of one artificial polyp and its actual size (10 mm in diameter) was 0.86 mm. Similarly, the difference between the mean of ten measurements of the polyp distance from the gastroesophageal junction and its actual distance (~ 22 cm) was 1.28 mm. Our results show that the changes in camera positions in which the images were taken and the quality of the polyp segmentation have the most impact on the accuracy of polyp size estimation.ConclusionThis study demonstrated an innovative approach to endoscopic measurements using motion tracking technologies and computer vision and demonstrated its accuracy in determining the size and location of the polyp. The observed magnitude of error is clinically acceptable, and the measurements are available immediately after the images captured. To enhance accuracy, it is recommended to avoid identical images and instead utilise control wheels on the endoscope for capturing different views. Future work should further evaluate this innovative method during clinical endoscopic procedures.

Correlation of Coagulation Dysfunction with Infection and Hypercapnia in Acute Exacerbation of COPD Patients.

This study aims to explore the factors influencing the coagulation function of patients with chronic obstructive pulmonary disease (COPD) and its effects on thrombosis. A total of 155 COPD patients, including 118 patients with acute exacerbation of COPD (AECOPD) and 37 patients with stable COPD (SCOPD), were enrolled in this study. Meanwhile, 50 patients with gastrointestinal polyps found during physical examination and treated with surgery in the same period were enrolled as the control group. The basic data, routine blood tests, C-reactive protein (CRP), procalcitonin (PCT), and coagulation indexes of the three groups were collected, as well as arterial blood gas indexes of AECOPD patients. The differences in erythrocyte count and hemoglobin among groups were not statistically significant. Compared with the SCOPD group and control group, white blood cell (WBC), neutrophil percentage, PCT, CRP, prothrombin time (PT), and fibrinogen (FIB) in the AECOPD group increased significantly, while the international normalized ratio (INR) decreased (P < 0.05). The differences in activated partial thromboplastin time (APTT) and D-dimer among groups were not statistically significant (P > 0.05). Thrombin time (TT) in the AECOPD group was shorter than that of the control group, and PT was longer than that of the SCOPD group (P < 0.05). Five patients with AECOPD and one patient with SCOPD had venous thrombosis. The abnormal coagulation function in AECOPD patients is related to the degree of infection and hypercapnia, which may be a risk factor for thrombosis.

Deep learning-based prediction model for diagnosing gastrointestinal diseases using endoscopy images

BackgroundGastrointestinal (GI) infections are quite common today around the world. Colonoscopy or wireless capsule endoscopy (WCE) are noninvasive methods for examining the whole GI tract for abnormalities. Nevertheless, it requires a great deal of time and effort for doctors to visualize a large number of images, and diagnosis is prone to human error. As a result, developing automated artificial intelligence (AI) based GI disease diagnosis methods is a crucial and emerging research area. AI-based prediction models may lead to improvements in the early diagnosis of gastrointestinal disorders, assessing severity, and healthcare systems for the benefit of patients as well as clinicians. The focus of this research is on the early diagnosis of gastrointestinal diseases using a convolution neural network (CNN) to enhance diagnosis accuracy. MethodsVarious CNN models (baseline model and using transfer learning (VGG16, InceptionV3, and ResNet50)) were trained on a benchmark image dataset, KVASIR, containing images from inside the GI tract using n-fold cross-validation. The dataset comprises images of three disease states—polyps, ulcerative colitis, and esophagitis—as well as images of the healthy colon. Data augmentation strategies together with statistical measures were used to improve and evaluate the model's performance. Additionally, the test set comprising 1200 images was used to evaluate the model's accuracy and robustness. ResultsThe CNN model using the weights of the ResNet50 pre-trained model achieved the highest average accuracy of approximately 99.80% on the training set (100% precision and approximately 99% recall) and accuracies of 99.50% and 99.16% on the validation and additional test set, respectively, while diagnosing GI diseases. When compared to other existing systems, the proposed ResNet50 model outperforms them all. ConclusionThe findings of this study indicate that AI-based prediction models using CNNs, specifically ResNet50, can improve diagnostic accuracy for detecting gastrointestinal polyps, ulcerative colitis, and esophagitis. The prediction model is available at https://github.com/anjus02/GI-disease-classification.git.

22: Unexpected upper gastrointestinal polyps in patients with short bowel syndrome treated with teduglutide: need for a close monitoring

22: Unexpected upper gastrointestinal polyps in patients with short bowel syndrome treated with teduglutide: need for a close monitoring

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.

Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased risk of gastrointestinal cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however in a significant number of patients with JPS, the etiology is unknown. From Danish registers, and genetic department and laboratories, we identified all patients in Denmark with a clinical diagnosis of JPS and/or a pathogenic variant in BMPR1A or SMAD4. In patients where no variant had been detected, we performed genetic analysis, including whole genome sequencing. We collected clinical information on all patients to investigate the phenotypic spectrum. Sixty-six patients (mean age 40years) were included of whom the pathogenic variant was unknown in seven patients. We detected a pathogenic variant in SMAD4 or PTEN in additional three patients and thus ≈95% of patients had a pathogenic germline variant. Endoscopic information was available in fifty-two patients (79%) and of these 31 (60%) fulfilled the clinical criteria of JPS. In 41 patients (79%), other types of polyps than juvenile had been removed. Our results suggest that almost all patients with a clinical diagnosis of JPS has a pathogenic variant in mainly BMPR1A, SMAD4, and more rarely PTEN. However, not all patients with a pathogenic variant fulfil the clinical criteria of JPS. We also demonstrated a wide clinical spectrum, and that the histopathology of removed polyps varied.

Unexpected upper gastrointestinal polyps in patients with short bowel syndrome treated with teduglutide: need for close monitoring

BackgroundTeduglutide is a GLP-2 analog indicated for the treatment of short bowel syndrome (SBS) since 2015. Its efficacy in reducing parenteral nutrition (PN) has been shown in patients with SBS. ObjectivesBecause teduglutide is a trophic factor, the aim of this study was to assess risk of developing polypoid intestinal lesions during treatment. MethodsA retrospective study was conducted in 35 patients with SBS treated with teduglutide for ≥1 y in a home PN expert center. All patients underwent ≥1 follow-up intestinal endoscopy during treatment. ResultsIn the 35 patients, the small bowel length was 74 cm (IQR: 25–100), and 23 patients (66%) had a colon in continuity. Upper and lower gastrointestinal endoscopy was performed after a mean treatment duration of 23 mo (IQR: 13–27), and polypoid lesions were found in 10 patients (6 with a colon in continuity, 4 with an end jejunostomy) and no lesion in 25 patients. In 8 out of the 10 patients, the lesion was found in the small bowel. Five of these lesions presented an aspect of hyperplastic polyp without dysplasia, and 3 of a traditional adenoma with low-grade dysplasia. ConclusionsOur study highlights the importance of performing follow-up upper and lower gastrointestinal endoscopy in SBS patients treated with teduglutide and the potential need to make changes to the recommendations with respect to treatment initiation and follow-up.

Intestinal intussusception in a child with Peutz-Jeghers syndrome: case report.

A clinical observation of a 5-year-old patient with a complicated course of PJS is presented. Emphasis on recurring episodes of acute abdomen, clinical diagnosis including polyp histopathology, and surgical management is emphasised. While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2-4mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5-10mm in size). Acute intussusception of the intestine was discovered by ultrasonography. A mid-median laparotomy was performed alongside manual disinvagination with gut viability intact. Histopathology of excised polyps revealed smooth muscle hyperplasia and Ki67 protein (MIB-1) positivity with small intestinal hamartomatous polyps seen macroscopically. Conservative management was initiated for standard postoperative care and intestinal motility. Patient was discharged 9 days postoperatively. Based on literature data, modern ideas concerning aetiology, diagnosis, and management of patients with PJS are considered. Attention is focused on the high risk of developing cancer of various localisation in PJS, recommendations are given for cancer screening and clinical observation of patients with hereditary gastrointestinal syndromes in childhood.

A Rare Case of Huge Schistosomiasis-Associated Cecal Polyp Mimicking Colon Carcinoma

Schistosomiasis is a parasitic infection caused by Schistosoma species, commonly found in tropical and subtropical regions. It affects millions of people worldwide and can lead to different clinical presentations like abdominal pain, weight loss, anemia, and chronic colonic schistosomiasis. In rare cases, chronic infection can result in the development of polyps, which can mimic colon carcinoma, posing a diagnostic challenge. Here, we present a rare case of a huge Schistosomiasis-associated cecal polyp in a patient initially suspected to have colon cancer. The patient's clinical history and the histopathological analysis confirmed the diagnosis, emphasizing the importance of considering parasitic infections in the differential diagnosis of gastrointestinal polyps in Schistosomiasis-endemic areas. This case report highlights the need for increased awareness among healthcare professionals of the potential for Schistosomiasis-associated polyps and the importance of multidisciplinary management in such cases.

Evaluation of non-gastric upper gastrointestinal system polyps: an epidemiological assessment

Non-gastric upper gastrointestinal system polyps are detected rarely and mostly incidentally during upper gastrointestinal endoscopy. While the majority of lesions are asymptomatic and benign, some lesions have the potential to become malignant, and may be associated with other malignancies. Between May 2010 and June 2022, a total of 127,493 patients who underwent upper gastrointestinal endoscopy were retrospectively screened. Among these patients, those who had polyps in the esophagus and duodenum and biopsied were included in the study. A total of 248 patients with non-gastric polyps were included in this study. The esophageal polyp detection rate was 80.00/100,000, while the duodenal polyp detection rate was 114.52/100,000. In 102 patients (41.1%) with esophageal polyps, the mean age was 50.6 ± 15.1, and 44.1% (n = 45) were male. The most common type of polyps was squamous papilloma (n = 61, 59.8%), followed by inflammatory papilloma (n = 18, 17.6%). In 146 patients (58.9%) with duodenal polyps, the mean age of patients was 58.3 ± 16.5, and 69.8% (n = 102) were male. Brunner's gland hyperplasia, inflammatory polyp, ectopic gastric mucosa, and adenomatous polyp were reported to be the most prevalent types of polyps in the duodenum overall (28.1%, 27.4%, 14.4%, and 13.7%, respectively). It is crucial to identify rare non-gastric polyps and create an effective follow-up and treatment plan in the era of frequently performed upper gastrointestinal endoscopies. The epidemiological assessment of non-gastric polyps, as well as a follow-up and treatment strategy, are presented in this study.

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

BackgroundPTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosigmoid area, and provides a literature review of PHTS case reports published between March 2010 and March 2022.Case presentationA 39-year-old Iranian female with a family history of gastric cancer in a first-degree relative presented with minimal bright red blood per rectum and resistant dyspepsia. Colonoscopy revealed the presence of over 20 polyps in the rectosigmoid area, while the rest of the colon appeared normal. Further upper endoscopy showed multiple small polyps in the stomach and duodenum, leading to a referral for genetic evaluation of hereditary colorectal polyposis. Whole-exome sequencing led to a PHTS diagnosis, even though the patient displayed no clinical or skin symptoms of the condition. Further screenings identified early-stage breast cancer and benign thyroid nodules through mammography and thyroid ultrasound.Method and results of literature reviewA search of PubMed using the search terms “Hamartoma syndrome, Multiple” [Mesh] AND “case report” OR “case series” yielded 43 case reports, predominantly in women with a median age of 39 years. The literature suggests that patients with PHTS often have a family history of breast, thyroid and endometrial neoplasms along with pathogenic variants in the PTEN/MMAC1 gene. Gastrointestinal polyps are one of the most common signs reported in the literature, and the presence of acral keratosis, trichilemmomas and mucocutaneous papillomas are pathognomonic characteristics of PHTS.ConclusionWhen a patient presents with more than 20 rectosigmoid polyps, PHTS should be considered. In such cases, it is recommended to conduct further investigations to identify other potential manifestations and the phenotype of PHTS. Women with PHTS should undergo annual mammography and magnetic resonance testing for breast cancer screening from the age of 30, in addition to annual transvaginal ultrasounds and blind suction endometrial biopsies.

Lower Gastrointestinal Bleeding in Children

Background: Bleeding per rectum is a fairly common clinical problem in children. Gastrointestinal infections, anal fissures, and polyps are the most common causes. However, many cases remain undiagnosed due to the nonavailability of diagnostic modalities. This prospective hospital-based study was designed to study clinical profiles and outcomes in children with lower gastrointestinal bleeding. Materials and Methods: Fifty-six children (1–12 years) presenting with bleeding per rectum were enrolled in the study. History and detailed examination were recorded. Investigations were done on basis of the clinical scenario. Children with bleeding per rectum were analyzed for demographic profile, clinical presentation, etiology, diagnostic investigations, and outcome in bleeding per rectum. Results and Observations: Anal fissure (67.3%) was the most common cause followed by colorectal polyp (16.4%), nonspecific colitis (7.3%), invasive amoebiasis (1.8%), intussusception (1.8%), and rectal mucosal prolapse (1.8%). Colonoscopy was diagnostic in 73% of children. Conclusion: Anal fissures and colorectal polyps are the most common noninfective cause of bleeding per rectum. Undiagnosed chronic cases of bleeding per rectum can result in complications such as anemia and malnutrition. The availability of diagnostic modalities can help in early diagnosis and treatment for better outcomes.

A stalk with no polyp-A muco-submucosal elongated polyp in the duodenum.

A 62-year-old Caucasian man was referred for upper GI endoscopy with a 6-month history of intermittent abdominal pain, nausea and bloating. Endoscopy revealed a 5-cm elongated lesion arising in D2. A pedunculated polyp (0-Ip) was suspected; however, deeper intubation revealed no polyp at the end of the stalk (Figure 1). Narrow band imaging did not reveal any adenomatous or suspicious features (Figure 2). The base of the polyp was injected with EMR solution (gelofusin, methylene blue and adrenaline 1:100,000), resected by snare cautery (Figure 3) and the defect was closed with two endoclips. Histopathology confirmed a 42 mm × 15 mm cylindrical lesion of hyperplastic duodenal mucosa with submucosal expansion by fibroconnective tissue. Histological analysis demonstrated features of a prominent submucosal vascular component with dilated lymphovascular structures, the absence of inflammatory infiltrate and the absence of significant architectural disturbance (Figure 4). These findings were consistent with a diagnosis of a muco-submucosal elongated polyp.1, 2 Muco-submucosal elongated polyp of the GIT under white light. Muco-submucosal elongated polyp of the GIT under narrow band imaging (NBI). Muco-submucosal elongated polyp of the GIT following resection. Histology section (2X) through the polyp shows architecturally normal small intestinal mucosa (yellow arrow) overlying a core of submucosa containing abundant adipose tissue (blue arrow) with submucosal vessels (green arrows). No significant inflammation is seen. Enteric muco-submucosal elongated polyps are rare, benign gastrointestinal polyps with an elongated, cylindrical ‘worm-like’ endoscopic appearance that is a hallmark of the disease.2, 3 Initially identified in the colon,1 few cases have been reported in the small bowel.3 It is hypothesised that peristaltic movements serve as mechanical traction for redundant mucosa, creating a nidus for polyp growth in these mucosal areas. They can mimic a number of other enteric lesions, in particular prolapsing mucosal folds (associated with diverticular disease) and filiform polyps (associated with inflammatory bowel disease). Immunohistochemistry demonstrates positivity for endothelial vascular markers (CD31) and endothelial lymphatic vessels (D2-40/podoplanin). Endoscopic ultrasound (EUS) can demonstrate the mucosal and submucosal layers of the polyp, with characteristic microcystic components aiding the diagnosis. Symptomatic patients can be treated by endoscopic resection, although treatment may be considered in asymptomatic cases given case reports suggesting an associated risk of intussusception,4 diverticulitis5 and non-polypoid neoplasia.6, 7 Surveillance gastroscopy 3 and 12 months post resection did not reveal any residual polyps. The authors wish to acknowledge the patients who attend, and staff who work in the Endoscopy Unit and the contribution they make to clinical research. There was no funding source for this research. The authors have no conflicts of interest to declare. Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

Deep vein thrombosis in a patient with Cronkhite-Canada syndrome: a complex case report

BackgroundCronkhite-Canada syndrome (CCS) is a rare disease characterized by generalized gastrointestinal polyps, ectodermal abnormalities and variable gastrointestinal symptoms. Few cases to date have described complications with deep vein thrombosis (DVT). Here we reported a rare case of CCS concomitant with DVT. The patient’s clinical details, endoscopic findings, safety, and efficacy are reported.Case presentationA 58-year-old patient was admitted to our hospital with recurrent diarrhea, overall abnormal appearance, including hyperpigmentation, hair loss and onychodystrophy, and multiple polyps distributed along the gastrointestinal tract except the esophagus. After considerable assessment, the patient was diagnosed with CCS. She was also diagnosed with concurrent DVT, nephrotic syndrome, and infectious enteritis during the course of disease. After treatment with a combination of methylprednisolone, mesalazine, antibiotics, rivaroxaban, and nutritional support during the 24 months of following the patient in this case, the clinical manifestations and endoscopic findings reached complete remission two years after the diagnosis.ConclusionTo our knowledge, this study is the first case of CCS complicated with DVT reported in China. Although rare, it is important to consider that DVT may occur after CCS and that it is vital to conduct careful follow-up.

Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases.

Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment. To explore the clinical features, diagnosis, and treatment of PJS in a Chinese medical center. The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized. A clinical database was established covering age, gender, ethnicity, family history, age at first treatment, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, quantity, and diameter, frequency of hospitalization, frequency of surgical operations, etc. The clinical data was retrospectively analyzed using SPSS 26.0 software, with P < 0.05 considered statistically significant. Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%. The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyps intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.

Endoscopic mucosal resection of gastrointestinal polyps with a novel low-temperature plasma radio frequency generator: a non-inferiority multi-center randomized control study.

To evaluate the efficacy and safety of novel plasma radio frequency generator and its single-use polypectomy snares for endoscopic mucosal resection (EMR) of gastrointestinal (GI) polyps. A total of 217 patients with 413 GI polyps were recruited from four centers in China. Patients were assigned to experimental or control groups using a central randomization method. The experimental group used the novel plasma radio frequency generator and its matched single-use polypectomy snares (Neowing, Shanghai), while the control group used the high-frequency electrosurgical unit (Erbe, Germany) and disposable electrosurgical snares (Olympus, Japan). The primary endpoint was the en bloc resection rate, and the non-inferiority margin was set at 10%. Secondary endpoint included operation time, coagulation success rate, intraoperative and postoperative bleeding rate, and perforation rate. The en bloc resection rate was 97.20% (104/107) in the experimental group and 95.45% (105/110) in the control group (P = 0.496). The operation time was 29.14 ± 20.21min in the experimental group and 30.26 ± 18.74min in the control group (P = 0.671). The average removal time of a single polyp in the experimental group was 7.52 ± 4.45min, which was slightly shorter than that in the control group 8.90 ± 6.67min, with no statistical difference (P = 0.076). The intraoperative bleeding rates of the experimental group and control group were 8.41% (9/107) and 10.00% (11/110), respectively (P = 0.686). No intraoperative perforation occurred in either group. The postoperative bleeding rates of the experimental group and the control group were 1.87% (2/107) and 4.55% (5/110), respectively (P = 0.465). No postoperative perforation occurred in the experimental group (0/107), while one case of delayed perforation occurred in the control group (1/110, 0.91%). There was no statistical difference between the two groups. Endoscopic mucosal resection of GI polyps with the novel plasma radio frequency generator is safe and effective, and non-inferior to the conventional high-frequency electrosurgical system.

Bannayan Zonana Syndrome: An Unusual Cause of Intussusception and Protein Losing Enteropathy in a Child

Bannayan-Zonana syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly, numerous soft tissue and visceral hamartomas, and lipomas. Because of the risk of fatal bleeding and visceral neoplasia in adulthood, recognizing this disease is critical. We reported a new pediatric case of BRRS in an 18-month-old female infant with lipomas, macrocephaly, and gastrointestinal hamartomatous polyps that prompted ileo-ileal intussusception and protein-losing enteropathy. Patients with BRRS require a comprehensive approach. Our case is unique in its sporadic occurrence and the presence of protein-losing enteropathy as a gastrointestinal polyposis manifestation. Pediatric patients with multiple lipomas, protein-losing enteropathy, and intestinal intussusception should be assessed for BRRS.

Hamartomatous polyps: Diagnosis, surveillance, and management.

Hereditary polyposis syndrome can be divided into three categories: Ade-nomatous, serrated, and hamartomatous polyps. Hamartomatous polyps, malformations of normal tissue presenting in a disorganized manner, are characterized by an autosomal dominant inheritance pattern. These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious and diligent monitoring. Peutz-Jeghers syndrome, Cowden syndrome, and juvenile polyposis syndrome are the most common displays of hamartomatous polyposis syndrome (HPS). Diagnosis can be pursued with molecular testing and endoscopic sampling. Early identification of these autosomal dominant pathologies allows to optimize malignancy sur-veillance, which helps reduce morbidity and mortality in both the affected patient population as well as at-risk family members. Endoscopic surveillance is an important pillar of prognosis and monitoring, with many patients eventually requiring surgical intervention. In this review, we discuss the diagnosis, surveillance, and management of HPS.