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2.
Clin J Gastroenterol ; 17(2): 258-262, 2024 Apr.
Article En | MEDLINE | ID: mdl-38270839

Most adult intussusceptions are secondary to various pathological conditions that serve as a lead point. Because of their serious nature, intussusceptions often require emergency surgery. We report a surgical case of amyloidosis associated with intussusception, probably due to polypoid protrusions and bleeding tendencies. An 80-year-old man with abdominal pain was suspected of having jejunal intussusception on computed tomography. He had been prescribed warfarin for atrial fibrillation, and excessive anticoagulation was observed with a prolonged prothrombin time/international normalized ratio of 5.44 at presentation. After the excessive anticoagulation was resolved, emergency surgery was performed. The intussuscepted jejunum was resected, and a 7 cm long dark-red pedunculated polyp was identified as the lead point, which was accompanied by multiple small pedunculated polyps. Histopathological examination showed that these were all hemorrhagic polyps. Amyloid depositions were observed in the muscularis mucosae, submucosa, and the walls of the blood vessels. Immunohistochemical analysis revealed immunoglobulin light chain amyloidosis. This case is informative to discuss the clinical sequelae of gastrointestinal amyloid deposition.


Amyloidosis , Immunoglobulin Light-chain Amyloidosis , Intussusception , Male , Adult , Humans , Aged, 80 and over , Intussusception/diagnostic imaging , Intussusception/etiology , Intussusception/surgery , Immunoglobulin Light-chain Amyloidosis/complications , Intestinal Polyps/complications , Intestinal Polyps/surgery , Intestinal Polyps/diagnosis , Amyloidosis/complications , Anticoagulants/therapeutic use
3.
Dig Dis Sci ; 69(2): 349-354, 2024 Feb.
Article En | MEDLINE | ID: mdl-38183558

Solitary hamartomatous polyps with identical pathological features of the typical hamartomas of the Peutz-Jegher syndrome are extremely rare. These solitary lesions lack the associated intestinal polyposis, classic mucocutaneous pigmentation, and family history typifying the Peutz-Jegher syndrome. We describe the case of a 31-year-old woman with a giant solitary gastric hamartoma endoscopically diagnosed and laparoscopically resected.


Adenomatous Polyps , Hamartoma , Peutz-Jeghers Syndrome , Stomach Neoplasms , Female , Humans , Adult , Peutz-Jeghers Syndrome/complications , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/surgery , Stomach Neoplasms/pathology , Intestinal Polyps/complications , Intestinal Polyps/surgery , Intestinal Polyps/pathology , Hamartoma/diagnostic imaging , Hamartoma/surgery , Hamartoma/pathology
5.
Genes (Basel) ; 14(10)2023 10 05.
Article En | MEDLINE | ID: mdl-37895258

Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.


Hamartoma Syndrome, Multiple , Humans , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Frameshift Mutation , PTEN Phosphohydrolase/genetics , Mutation , Intestinal Polyps/complications
6.
Medicine (Baltimore) ; 102(43): e35448, 2023 Oct 27.
Article En | MEDLINE | ID: mdl-37904372

RATIONALE: Juvenile polyps (JPs) are the most common polyp type and can be observed in 1% of all preschoolers. The peak incidence is observed at ages 3 to 5 years, constituting 90% of all polyps in children. Elevated levels of fecal calprotectin (FC) are often seen in children with JPs. PATIENT CONCERNS: A 15-month-old girl was referred to our hospital for blood on the stool surface persisting for 3 months. She was healthy, with no abdominal pain, diarrhea, anorexia, or weight loss and no complaints other than hematochezia. Her physical examination, vital signs and laboratory date were unremarkable. DIAGNOSIS: JPs. INTERVENTION: Total colonoscopy for her found 2 JPs in the sigmoid colon, which were subsequently resected endoscopically. OUTCOMES: At the age of 5 years, this patient again had bloody stools. Her FC measurement at that time was 1020 mg/kg, which normalized to 42 mg/kg 3 months after her second resection. LESSONS: Single or multiple solitary JPs require follow-up that fully considers the possibility of recurrence. Establishing a method for early confirmation of JP recurrence based on bloody stools, fecal occult blood testing, and FC measurement is necessary.


Colonic Polyps , Colorectal Neoplasms , Humans , Child , Female , Child, Preschool , Infant , Intestinal Polyps/complications , Colonoscopy/adverse effects , Feces , Colon, Sigmoid , Colorectal Neoplasms/complications , Gastrointestinal Hemorrhage/etiology , Leukocyte L1 Antigen Complex , Colonic Polyps/diagnosis , Colonic Polyps/surgery
8.
J Coll Physicians Surg Pak ; 33(6): 633-637, 2023 Jun.
Article En | MEDLINE | ID: mdl-37300257

OBJECTIVE: To investigate the frequency of recurrence after colonoscopic high-frequency electroresection of intestinal polyps and analyse the risk factors associated with recurrence. STUDY DESIGN: Observational study. Place and Duration of the Study: Second People's Hospital of Hefei, China, from January 2017 to January 2021. METHODOLOGY: Clinical data of 240 patients with intestinal polyps who underwent high-frequency electroresection were analysed. After two years, patients with recurring polyps were categorised into recurrence or non-recurrence groups. Intestinal polyp recurrence was the dependent variable, and patient characteristics, medical history, and gastrointestinal parameters were independent variables. Variables significant in univariate analysis were included in unconditional binary logistic regression analysis. RESULTS: No significant difference was found in gender, BMI, smoking history, drinking history, previous gastrointestinal bleeding, location of polyps, intestinal cleanliness, and high-fat diet between groups (p >0.05). Age (≥60 years), number of polyps (≥3), diameter (≥2 cm), adenomatous polyps, Helicobacter pylori infection, metabolic syndrome proportion, and C-reactive protein levels were significantly higher in the recurrent group (p <0.05). Multivariate analysis revealed age (≥60 years), number of polyps (≥3), diameter (≥2 cm), adenomatous polyps, and metabolic syndrome as the factors associated with recurrence (p<0.05). CONCLUSION: Age, greater number of intestinal polyps, larger diameter, histopathological type, and the presence of metabolic syndrome are factors influencing intestinal polyp recurrence after endoscopic high-frequency electroresection. KEY WORDS: Intestinal polyps, Colonoscope, High-frequency electroresection, Recurrence.


Adenomatous Polyps , Colonic Polyps , Helicobacter Infections , Helicobacter pylori , Metabolic Syndrome , Humans , Middle Aged , Helicobacter Infections/complications , Intestinal Polyps/surgery , Intestinal Polyps/complications , Adenomatous Polyps/complications , Risk Factors , Colonic Polyps/surgery , Colonic Polyps/complications , Colonic Polyps/pathology
9.
BMJ Case Rep ; 16(6)2023 Jun 02.
Article En | MEDLINE | ID: mdl-37270178

We present a patient who developed an ileocolic intussusception within a few hours of undergoing an endoscopic polypectomy found on screening colonoscopy. She underwent a laparoscopic right hemicolectomy with intracorporeal anastomosis. Final histopathological examination showed no evidence of malignancy. Intussusception after colonoscopy is a rare complication, and only 11 cases have been reported prior to this case. Laparoscopic resection with intracorporeal anastomosis is a safe and feasible option in patients who are not candidates or failed conservative management.


Intussusception , Laparoscopy , Female , Humans , Intussusception/etiology , Intussusception/surgery , Intussusception/diagnosis , Colectomy/adverse effects , Colonoscopy/adverse effects , Intestinal Polyps/surgery , Intestinal Polyps/complications , Laparoscopy/adverse effects , Anastomosis, Surgical/adverse effects
10.
J Dig Dis ; 24(4): 271-277, 2023 Apr.
Article En | MEDLINE | ID: mdl-37269540

OBJECTIVES: Cronkhite-Canada syndrome (CCS) is a rare nonhereditary gastrointestinal hamartomatous polyposis syndrome with a high risk of colorectal cancerogenesis. It is challenging to discriminate adenomas from nonneoplastic colorectal polyps macroscopically. This study aimed to explore the endoscopic features of different histopathological patterns of colorectal polyps in CCS. METHODS: Sixty-seven lesions from 23 CCS patients were prospectively biopsied or resected during the colonoscopic examination for histopathological analysis. The Fisher's exact test and multivariate logistical analysis were conducted to reveal the predictive endoscopic features of CCS polyps with low-grade dysplasia (LGD) and adenomas. RESULTS: There were seven (10.4%) adenomas, 20 (29.9%) CCS-LGD, and 40 (59.7%) nonneoplastic CCS polyps. Polyps were large (>20 mm) in none of the adenomas, 30.0% of CCS-LGD polyps, and 2.5% of nonneoplastic CCS polyps (P < 0.001). The color of the polyps was whitish for 71.4% of adenomas, 10.0% of CCS-LGD polyps, and 15.0% of nonneoplastic CCS polyps (P = 0.004). Pedunculated polyps were detected in 42.9% of adenomas, 45.0% of CCS-LGD polyps, and 5.0% of nonneoplastic CCS polyps (P < 0.001). The proportions of types IV and VI in the Kudo classification were 42.9%, 95.0%, and 35.0% in adenomatous, CCS-LGD, and nonneoplastic CCS polyps, respectively (P = 0.002). The endoscopic activity was in remission for 71.4% of adenomas, 5.0% of CCS-LGD polyps, and 10.0% of nonneoplastic CCS polyps (P < 0.001). CONCLUSION: Endoscopic features, including the size, color, sessility, Kudo's pit pattern classification of polyps, and endoscopic activity, help identify the histopathological patterns of colorectal polyps in CCS.


Adenoma , Colonic Polyps , Intestinal Polyposis , Humans , Colonic Polyps/diagnosis , Colonoscopy , Intestinal Polyposis/complications , Intestinal Polyps/complications , Adenoma/complications , Adenoma/diagnosis
13.
Arch Iran Med ; 26(6): 355-357, 2023 Jun 01.
Article En | MEDLINE | ID: mdl-38310437

An inflammatory fibroid polyp is a rare benign lesion of the gastrointestinal tract, which can cause obstruction or intussusception when it reaches a large diameter. We present a case of a 46-year-old female admitted to our clinic with recurrent ileus attacks. We performed segmental resection of the small bowel due to a 3-cm pedunculated polypoid lesion located in the terminal ileum that caused ileo-ileal intussusception and whose pathology was reported as an inflammatory fibroid polyp. In adults presenting with ileus, the possibility of intussusception should be kept in mind.


Gastrointestinal Neoplasms , Ileal Diseases , Ileus , Intestinal Obstruction , Intussusception , Leiomyoma , Adult , Female , Humans , Middle Aged , Intussusception/surgery , Intussusception/complications , Intestinal Polyps/complications , Intestinal Polyps/surgery , Intestinal Polyps/pathology , Ileal Diseases/diagnosis , Ileal Diseases/etiology , Ileal Diseases/surgery , Ileum/pathology , Ileus/complications , Ileus/pathology
14.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(9): 1327-1332, 2022 Sep 06.
Article Zh | MEDLINE | ID: mdl-36207899

To analyze the clinical and endoscopic characteristics of colorectal polyps in children, and to explore the detection rate, age and gender distribution characteristics, endoscopic treatment effect and follow-up monitoring of colorectal polyps in children, so as to provide reference for disease management of colorectal polyps in children. The clinical and endoscopic characteristics of children with colorectal polyps in Xi 'an Children's Hospital from January 2019 to December 2019 were retrospectively analyzed. The patients were divided into 5 groups according to age (y): 0

Colonic Polyps , Child , Child, Preschool , Colonoscopy , Female , Gastrointestinal Hemorrhage/complications , Humans , Intestinal Polyps/complications , Intestinal Polyps/diagnosis , Intestinal Polyps/surgery , Male , Retrospective Studies
16.
Med J Malaysia ; 77(Suppl 1): 35-37, 2022 07.
Article En | MEDLINE | ID: mdl-35899886

Intussusception is a common cause of intestinal obstruction in children, especially in those of age <5 years. The typical signs and symptoms of this condition is colicky abdominal pain, bloody mucous stool, and palpated abdominal mass, with a classic target sign finding on abdominal ultrasound. In older children, the symptoms may vary, which necessitates investigation of the cause of intussusception, as it is often caused by a pathologic lead point. We report here the case of a 14-year-old girl with total bowel obstruction, hematochezia, a very dilated reverse C-shaped bowel loop, and intestinal pneumatosis on abdominal X-ray. During laparotomy, we detected jejunojejunal intussusception caused by jejunal polyp. After bowel resection and anastomosis, the patient recovered well and had no other events during follow-up.


Intestinal Obstruction , Intussusception , Jejunal Diseases , Adolescent , Child , Child, Preschool , Female , Gastrointestinal Hemorrhage/surgery , Humans , Intestinal Obstruction/surgery , Intestinal Polyps/complications , Intestinal Polyps/surgery , Intussusception/diagnostic imaging , Intussusception/etiology , Intussusception/surgery , Jejunal Diseases/diagnostic imaging , Jejunal Diseases/etiology , Jejunal Diseases/surgery , Laparotomy/adverse effects
18.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(5): 530-535, 2022 May 15.
Article Zh | MEDLINE | ID: mdl-35644193

OBJECTIVES: To study the clinical features of intestinal polyps and the risk factors for secondary intussusception in children. METHODS: A retrospective analysis was performed for the medical data of 2 669 children with intestinal polyps. According to the presence or absence of secondary intussusception, they were divided into two groups: intussusception (n=346) and non-intussusception (n=2 323). Related medical data were compared between the two groups. The multivariate logistic regression analysis was used to identify the risk factors for secondary intussusception. RESULTS: Among the children with intestinal polyps, 62.42% were preschool children, and the male/female ratio was 2.08∶1; 92.66% had hematochezia as disease onset, and 94.34% had left colonic polyps and rectal polyps. There were 346 cases of secondary intussusception, with an incidence rate of 12.96% (346/2 669). Large polyps (OR=1.644, P<0.001), multiple polyps (≥2) (OR=6.034, P<0.001), and lobulated polyps (OR=93.801, P<0.001) were the risk factors for secondary intussusception. CONCLUSIONS: Intestinal polyps in children often occur in preschool age, mostly in boys, and most of the children have hematochezia as disease onset, with the predilection sites of the left colon and the rectum. Larger polyps, multiple polyps, and lobulated polyps may increase the risk of secondary intussusception, and endoscopic intervention is needed as early as possible to improve prognosis.


Intussusception , Child, Preschool , Female , Gastrointestinal Hemorrhage , Humans , Intestinal Polyps/complications , Intussusception/complications , Male , Retrospective Studies , Risk Factors
19.
Am J Gastroenterol ; 117(6): 846-864, 2022 06 01.
Article En | MEDLINE | ID: mdl-35471415

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This US Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.


Colorectal Neoplasms , Hamartoma Syndrome, Multiple , Hamartoma , Intestinal Polyposis , Neoplastic Syndromes, Hereditary , Peutz-Jeghers Syndrome , Telangiectasia, Hereditary Hemorrhagic , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/genetics , Colorectal Neoplasms/therapy , Gastrointestinal Hemorrhage/complications , Hamartoma/complications , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Humans , Intestinal Polyposis/complications , Intestinal Polyposis/congenital , Intestinal Polyposis/diagnosis , Intestinal Polyposis/genetics , Intestinal Polyps/complications , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics , Neoplastic Syndromes, Hereditary/therapy , Peutz-Jeghers Syndrome/complications , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/genetics , Telangiectasia, Hereditary Hemorrhagic/complications
20.
Gastrointest Endosc ; 95(6): 1025-1047, 2022 06.
Article En | MEDLINE | ID: mdl-35487765

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This U.S. Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.


Colorectal Neoplasms , Hamartoma Syndrome, Multiple , Hamartoma , Intestinal Polyposis , Peutz-Jeghers Syndrome , Telangiectasia, Hereditary Hemorrhagic , Colorectal Neoplasms/complications , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/genetics , Gastrointestinal Hemorrhage/complications , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Humans , Intestinal Polyposis/complications , Intestinal Polyposis/congenital , Intestinal Polyposis/diagnosis , Intestinal Polyposis/genetics , Intestinal Polyps/complications , Neoplastic Syndromes, Hereditary , Peutz-Jeghers Syndrome/complications , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/genetics , Telangiectasia, Hereditary Hemorrhagic/complications
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