Juvenile Polyps Research Articles

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.

Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.

Colorectal, hamartomatous juvenile polyps occur as part of different hereditary syndromes, including Juvenile polyposis syndrome and PTEN-hamartoma tumour syndrome. However, based on clinical manifestations alone, it is difficult to differentiate between the syndromes, and genetic analysis with an NGS-panel is often used to aid diagnostics. We report a 59-year-old male with colorectal juvenile polyps, who had been referred to genetic testing but had normal genetic analysis. He did not fulfil the clinical criteria of PTEN- hamartoma tumour syndrome, but the clinical criteria of Juvenile polyposis syndrome. With Whole Genome Sequencing we detected a novel intronic variant of unknown significance in PTEN (NC_000010.11:g.89687361 A > G(chr10, hg19), NM_000314.8:c.209 + 2047 A > G). RNA analysis classified the variant as likely pathogenic as it results in a pseudoexon inclusion introducing a frameshift and a premature stop codon. The patient was then diagnosed with PTEN-hamartoma Tumour syndrome. To our knowledge this is the first report of a variant resulting in pseudoexon inclusion in PTEN.

Self-amputated rectal juvenile polyp: An entity to consider in the differential diagnosis of rectal prolapse in childhood

Self-amputated rectal juvenile polyp: An entity to consider in the differential diagnosis of rectal prolapse in childhood

Role of the bicarbonate transporter SLC4γ in stony-coral skeleton formation and evolution.

Coral reefs are highly diverse ecosystems of immense ecological, economic, and aesthetic importance built on the calcium-carbonate-based skeletons of stony corals. The formation of these skeletons is threatened by increasing ocean temperatures and acidification, and a deeper understanding of the molecular mechanisms involved may assist efforts to mitigate the effects of such anthropogenic stressors. In this study, we focused on the role of the predicted bicarbonate transporter SLC4γ, which was suggested in previous studies to be a product of gene duplication and to have a role in coral-skeleton formation. Our comparative-genomics study using 30 coral species and 15 outgroups indicates that SLC4γ is present throughout the stony corals, but not in their non-skeleton-forming relatives, and apparently arose by gene duplication at the onset of stony-coral evolution. Our expression studies show that SLC4γ, but not the closely related and apparently ancestral SLC4β, is highly upregulated during coral development coincident with the onset of skeleton deposition. Moreover, we show that juvenile coral polyps carrying CRISPR/Cas9-induced mutations in SLC4γ are defective in skeleton formation, with the severity of the defect in individual animals correlated with their frequencies of SLC4γ mutations. Taken together, the results suggest that the evolution of the stony corals involved the neofunctionalization of the newly arisen SLC4γ for a unique role in the provision of concentrated bicarbonate for calcium-carbonate deposition. The results also demonstrate the feasibility of reverse-genetic studies of ecologically important traits in adult corals.

Solitary Juvenile Polyp Presenting as an Ileo-Ileal Intussusception in an Infant: A Case Report

Juvenile polyposis syndrome (JPS) was first described in 1964. It is a rare (approximately one in every 100,000 individuals) autosomal dominant disease that is characterized by the occurrence of several juvenile polyps in the gastrointestinal tract. Juvenile polyp is a specific type of hamartomatous polyp. The term ‘juvenile’ refers to the polyp histology rather than the age of onset of the polyp. An isolated juvenile polyp is not diagnostic of JPS and occurs in approximately 2% of children and adolescents. Here we present a case of a 7 month old baby boy who presented with recurrent vomiting and abdominal pain and on examination revealed RIF mass and tenderness. Clinically, the diagnosis of intussusception was suspected and confirmed on sonographic examination. Exploration of the abdomen revealed ileo-ileal intussusception. Further, Juvenile polyp was identified by the presence of cystically dilated glands lined by cuboidal to columnar epithelium, filled with secretions, abundance of edematous lamina propria with inflammatory cells on histopathological examination. The relevance of this case report lies on the fact that appearance of juvenile polyp in ileum is rare.

Juvenile Colorectal Polyposis in Children: About a Clinical Case

Juvenile polyposis syndrome is a rare autosomal dominant hereditary disease characterized by the presence of several juvenile polyps in the gastrointestinal tract. This disease predisposes to colorectal cancer, hence the importance of an early detection and a rigorous endoscopic screening [1]. We report the case of a juvenile colorectal polyposis in a 16 years old child revealed by a chronic rectal bleeding.

Characterization of Colonoscopies in Preschool Children.

The indications, diagnostic yield, complications, and cecal and ileal intubation rates (CIR and IIR) for colonoscopies in children aged <6 years, denoted preschoolers, is unclear since there is limited information for this group. We aimed to describe the above parameters in our cohort of preschoolers undergoing a colonoscopy. Retrospective review of all colonoscopies in a tertiary pediatric hospital between December 1, 2014 to December 31, 2020 was undertaken. Demographic factors, indication for colonoscopy, extent of colonoscopy, CIR, IIR, and histologic findings were noted. Preschoolers were further subdivided into those aged <2 years, and those aged 2 to <6 years. One thousand six hundred seventy-one total colonoscopies were performed, of which 13% (n = 219) were in preschoolers with median age 3.9 (range 0.3-5.9) years. Most common indications in preschoolers were rectal bleeding 35% (n = 78), inflammatory bowel disease 24% (n = 53), diarrhea 13% (n = 30), iron-deficiency anemia 11% (n = 25), and abdominal pain 7% (n = 16). IIR and CIR were lower in preschoolers compared to older children, 81% vs 92% ( P = 0.0001), and 93% vs 96.4% ( P = 0.02), respectively, and even lower in those aged <2 years, 48.1% IIR ( P = 0.0001) and 85.1% CIR. Juvenile polyps, 31% (n = 27), were the most common positive finding in preschool children. Rectal bleeding was the most common indication and juvenile polyps the most common finding at colonoscopy in preschoolers. A high IIR is achievable in young children but rates are increasingly lower the younger the child.

Flexible Sigmoidoscopy Utility in the Diagnosis of Pediatric Gastrointestinal Disorders.

Although flexible sigmoidoscopy (FS) is utilized in children for the diagnosis of pediatric gastrointestinal conditions, such as inflammatory bowel disease and juvenile polyp disorders, the diagnostic yield of FS in pediatric patients is unknown. We retrospectively reviewed FS cases in children under 18 years of age over a five-year period at our institution.Indications for the procedure, endoscopic visual findings, histologic findings, final diagnosis, and any management changes based on FS findings were included. A total of 354 cases were included in the analysis for which 40 cases (11.3%) had abnormal visual findings, 48 cases (13.6%) had abnormal histologic findings, and 13 cases (3.7%) had both abnormal endoscopic visual and histologic findings.Of the 88 cases with abnormal visual and/or histologic abnormalities, only the results of 34 of these FS cases led to a change in management based on endoscopic findings (9.6%).Most patients with a non-diagnostic FS had a final diagnosis of functional abdominal pain; most patients with a diagnostic FS had a final diagnosis of colitis, not otherwise specified. Our findings suggest that FS is not a helpful diagnostic endoscopic intervention in pediatric patients, especially in children with reassuring history and physical exam findings.

Clinical, Endoscopic and Pathological Characteristics of Colorectal Polyps in Children and Adolescents

Background and Aim: Polyps of the gastrointestinal tract (GI) are apparent protrusions from the mucosal surface. The majority of polyps is asymptomatic and goes unnoticed; however in symptomatic situations, the most common clinical manifestations include abdominal discomfort, and rectal prolapse, intestinal blockage, and GI bleeding. The present study intended to assess the colorectal polyps characteristics based on clinical, pathological, and endoscopy in children and adolescents. Patients and Methods: This retrospective study was conducted on 78 children and adolescents (&lt;18 years) with colorectal polyps in Gastroenterology Department of DHQ Teaching Hospital and Mufti Mahmood Memorial Hospital, Dera Ismail Khan from January 2020 to September 2022. Participants were assessed for various clinical variables such as age, gender, colonoscopy-related signs and symptoms, polyp identification, symptom’s onset age, duration between colonic polyp’s endoscopic diagnosis and symptoms onset, and intestinal polyps family history. Polyp’s characteristics involved: frequency, histology, morphological type, and distribution. SPSS version 26 was used for data analysis. Results: The overall mean age was 8.6±2.4 years with an age range 3 to 18 years. Of the total 78 colonic polyps, there were 48 (61.5%) male and 30 (38.5%) females. The most prevalent symptom was rectal bleeding present in 94.6% (n=74) cases with 13.8±16 months. Juvenile was the prevalent polyps found in 76.9% (n=60), out of which 96.7% (n=58) were in left colon. The prevalence of Solitary polyps, multiple polyps, familial adenomatous polyposis, and Peutz-Jeghers syndrome (PJS) was 10.3% (n=8), 6.4% (n=5), 3.8% (n=3), and 2.6% (n=2) respectively. Polyposis syndrome cases were more likely to have old age, diarrhea, anemia, and abdominal pain. Peutz-Jeghers syndrome majority patients experienced intestinal partial blockage with acute episodes, abdominal pain, and emergency laparotomy, resulting in increased morbidity. Conclusion: The present study found that clinical signs of polyposis syndrome include anemia, diarrhea, abdominal pain, polypectomy history, and older age at presentation. Despite the fact that the most commonly diagnosed kind of polyp was juvenile colonic polyps, the current investigation recognized a substantial number of polyposis syndromes children, which are related with individual’s higher rate of morbidity. Keywords: Colonic polyps, Clinical features, Endoscopic characteristics, Colonoscopy

An Isolated Intestinal Juvenile Polyp Diagnosed by Abdominal Ultrasonography and Resected by Double-Balloon Endoscopy: A Case Report and Literature Review.

Juvenile polyps, typically localized in the rectum and sigmoid colon, are a common cause of pediatric bloody stool. An isolated small intestinal juvenile polyp is uncommon and generally difficult to diagnose. The first case of an isolated juvenile polyp diagnosed by abdominal ultrasonography before acute abdomen had developed and resected by double-balloon endoscopy is presented along with a review of previous reports including this case. A two-year-old Japanese boy was referred to our institute for further evaluation of anemia persisting from one year of age. Laboratory findings showed mild iron deficiency anemia and elevated fecal human hemoglobin (Hb) and fecal calprotectin values. Upper and lower endoscopic findings showed no abnormalities. Because the abdominal ultrasonography performed one year later demonstrated a 15 mm jejunal polyp, combined with a similar finding on small intestinal capsule endoscopy, this was diagnosed as an isolated lesion. The lesion was resected by cautery with double-balloon endoscopy and diagnosed as a juvenile polyp pathologically. All clinical symptoms disappeared, and all laboratory data improved after treatment, without recurrence for more than one year after the procedure. Abdominal ultrasonographic screening and the fecal calprotectin value led to the diagnosis and non-surgical invasive treatment of an isolated small intestinal juvenile polyp.

Pathologists’ overview of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome

PTEN hamartoma tumour syndrome (PHTS) is a rare cancer predisposition syndrome, caused chiefly by pathogenic and likely pathogenic (P/LP) variants in the PTEN gene. The rarity of this disease, involvement of multiple sites and the absence of pathognomonic features hamper early diagnosis, limiting opportunities for cancer screening. We wondered whether PHTS patients’ prior biopsies may provide clues to this syndrome. With ethics approval, through a collaboration with our state-wide Adult Genetics Unit, we undertook a 28-year survey (1990–2018) of prior biopsies of 12 women known to have P/LP PTEN variants. One woman had a family history of PHTS. The earliest biopsy was at age 19. Multiple benign mucocutanous lesions affected 10 women, including benign vascular lesions: eight patients, fibromatous skin and mucosal lesions: six patients, one ganglioneuroma and one juvenile polyp. Ten women developed breast cancer, four under 40 years. Five women developed a second breast cancer, two synchronously and three at interval of 3–11 years. Other neoplasms included endometrial carcinoma two patients and dysplastic cerebellar gangliocytoma three patients. Overview of the biopsy histories of PTEN P/LP variant carriers may be a clue to the diagnosis, so clinical and genetic counselling and evaluation may be considered.

Fecal Calprotectin Levels Significantly Correlate with Polyp Size in Children and Adolescents with Juvenile Colorectal Polyps

We aimed to investigate factors that correlate with fecal calprotectin (FC) levels in children and adolescents with colorectal polyps. Pediatric patients aged <19 years who underwent colonoscopic polypectomy for a juvenile polyps (JPs) and FC tests were simultaneously conducted in a multicenter, retrospective study. Baseline demographics, colonoscopic and histological findings, and laboratory tests, including FC levels, were investigated. Correlations between the factors were investigated, and linear regression analysis revealed factors that correlated with FC levels. FC levels measured after polypectomies were investigated and the FC levels pre- and post-polypectomies were compared. A total of 33 patients were included in the study. According to Pearson correlation analysis, the polyp size was the only factor that showed a statistically significant correlation with FC levels (r=0.75, p<0.001). Furthermore, according to the multivariate linear regression analysis, polyp size was the only factor that showed a statistically significant correlation with FC levels (adjusted R2 =0.5718, β=73.62, p<0.001). The median FC level was 400 mg/kg (interquartile range [IQR], 141.6-1,000 mg/kg), and the median polyp size was 14 mm (IQR, 9-20 mm). Nineteen patients underwent post-polypectomy FC tests. FC levels showed a significant decrease after polypectomy from a median of 445.2 mg/kg (IQR, 225-1,000) to 26.5 mg/kg (11.5-51) (p<0.001). FC levels significantly correlated with polyp size in children and adolescents with JPs.

Disease patterns among Saudi children undergoing colonoscopy for lower gastrointestinal bleeding: Single tertiary care center experience.

: The yield of colonoscopy in cases presenting with lower gastrointestinal bleeding (LGIB) in previously published studies varies according to several factors, including endoscopic skills, histopathological experience, and pattern of colonic pathology in different countries. The local literature is limited to a single small 20-year-old study. Our objective was to provide updated data on the diagnostic yield of colonoscopy in Saudi children with LGIB in Saudi Arabia. : This was a retrospective analysis of pediatric patients (0-14 years of age) who underwent colonoscopy for LGIB at the King Fahad Medical City (KFMC), from 2008 to 2018. LGIB was defined as fresh or dark blood per rectum. : During the study period, 175 children underwent colonoscopy for LGIB (99 males, mean age 7.05 ± 3.81 years), which constituted 53.5% of indications for colonoscopy procedures (n = 327) in our center. The terminal ileum was intubated in 81% of the procedures. Overall, inflammatory bowel disease (IBD) was the most commonly identified cause of LGIB (32% ) followed by colonic lymphonodular hyperplasia (CLNH) in 17% and juvenile polyp and rectal mucosal prolapse syndrome (RMPS), 11% each. On sub-analysis, cow's milk protein allergy (CMPA) and CLNH were the most common causes in infants and toddlers, 35% each; IBD (26.5%) and polyps (22.4%) in young children (2-6 years), and IBD (36%), CLNH (14.9%) and RMPS (14%) in older children (6-14 years). In comparing the IBD to the non-IBD group, IBD patients were older (mean 8.37 vs. 6.46 years, P = 0.002) and more likely to have diarrhea, weight loss, high erythrocyte sedimentation rate, anemia, and hypoalbuminemia (odds ratio 24, 11, 10.7, 6.5, and 4, respectively). Colonoscopy had a sensitivity of 97%, specificity of 100%, positive predictive value of 100%, negative predictive value of 81.4%, and accuracy of 97% in diagnosing LGIB. : Colonoscopy is an effective diagnostic tool in children with LGIB with a high diagnostic yield. Besides IBD, CLNH and RMPS are two other important pathologic entities that need to be considered in a child with LGIB.

Spectrum of Colorectal Polyps in Southern India: A Twin Centre Ambispective Study

Introduction: Intestinal polyps are grossly visible tumours which protrude (into lumen of gastrointestinal tract). Majority of the polyps are benign in the paediatric age group. However in adults, they may be harbingers of more serious genetic, familial or developmental disorders and some of them may be premalignant. Aim: Our aim was to study the distribution, histological varieties of colorectal polyps and to examine dysplasia in adenomatous polyps and its determinants. Materials and Methods: This is a four years retrospective and one year prospective study from June 2017 to May 2022 conducted at Upgraded Department of pathology, Osmania General Hospital and a tertiary care centre, Shadan institute of medical sciences, Hyderabad. A total of 110 cases of polyps were studied which included 62 cases in adults and 48 cases in children (0-12 years). Predictors of dysplasia in adenomatous polyps were studied. Results were analysed using PSPP software. Results: There were 62.73% (69) males and 37.27% (41) females. The commonest clinical presentation was bleeding from rectum 64.54% (71) cases. Rectosigmoid was the commonest site in 83.64% (92) cases. Juvenile polyps were the commonest in children and constituted 89.58% (43 cases). In adults, there were 63.07% (41) adenomatous polyps. A statistically significant association has been observed between high grade dysplasia and size (p-value 0.015) and villous architecture (p-value 0.02). There was no statistically significant association with site (p-value 0.2). Conclusion: A rising incidence of Colorectal Cancer (CRC) has necessitated identification of preneoplastic Adenomatous polyps which may progress to carcinoma via the Adenomacarcinoma sequence. Polyps occurring as part of polyposis syndromes have increased neoplastic potential. Their detection and treatment carries significant implications both for the patients and their families. In India, there is a need for screening colonoscopy in asymptomatic individuals which can be a potential cancer prevention tool.

A juvenile polyp on screening colonoscopy

A juvenile polyp on screening colonoscopy

Practice Patterns of Colorectal Polypectomy in Pediatric Endoscopic Specialists in South Korea: A Nationwide Survey Study

Total colonoscopy is recommended if colorectal polyps are clinically suspected. This study aimed to investigate the performance status of pediatric colonoscopic polypectomy in Korea. We surveyed pediatric endoscopic specialists who perform colonoscopic polypectomy in Korea using a questionnaire of 13 questions on pediatric colonoscopic polypectomy performance status. The survey was conducted at 45 institutions, and 32 specialists (71.1%) responded. Among the respondents, 31.2% (10/32) said colonoscopy was performed in all age groups, while 12.5% (4/32) said sigmoidoscopy was performed in all age groups. Meanwhile, 56.2% (18/32) said that sigmoidoscopy was performed in young children, while colonoscopy was performed in older children. Among them, 38.9% (7/18) believe that 4-6 years were young, and 44.5% (8/18) believe that 7-9 years were young. Regarding surveillance examinations, 21.9% (7/32) said they would perform a surveillance colonoscopy or sigmoidoscopy in the future if less than five juvenile polyps were found in the colon. Meanwhile, if less than five adenomatous polyps were found in the colon, 93.8% (30/32) said they would perform surveillance colonoscopy or sigmoidoscopy in the future. More than half of the pediatric endoscopic specialists in Korea choose between a colonoscopy and sigmoidoscopy depending on the patient's age, contrary to the generally accepted recommendation of total colonoscopy if colorectal polyps are suspected in children and adolescents. In this survey, most pediatric endoscopists used the age range of 4-9 years as the reference age.

Juvenile polyp in a pediatric patient with adenocarcinoma.

TableS 1 Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Clinical and Anatomo-Pathological Study of Digestive Polyps at Point G Teaching Hospital

Introduction: The aim of our study was to describe the aspects clinical and pathology of digestive polyps. Methods: This was a descriptive and analytical study with retrospective and prospective collection from January 2014 to September 2020, i.e. a duration of 72 months. Our study focused on all cases of non-cancerous digestive pathologies. The data were collected from registers, medical files and reports from the anatomy and pathological cytology department of the Point G University Hospital. All of this data was entered on an individual survey form. This sheet includes demographic data, qualitative and quantitative variables. Results: We conducted a study of 131 cases of digestive polyps. The frequency of digestive polyps was 3.65%. The mean age of our patients was 44.6 ± 21 years with extremes of 2 years and 79 years, with a male predominance and a sex ratio of 1.01. The biopsy was the type of sample most represented in 77.1%. The digestive polyps were located in stomach in 37.4%; the colon in 27.5% then the rectum 21.4%. The polyp sessile accounted for 65.6%. Histological examination revealed that adenomatous polyps were predominant in 77% of cases, followed by juvenile polyps in 9.2%, then hyperplastic polyps in 6.2%. Low grade dysplasia was found in adenomatous polyps in 61.53% and high grade found in 38.4%. Gastritis due to Helicobacter pylori (Hp) was found in 16% of cases. Conclusion: Digestive polyps are common in the general population. The prognosis is linked to the risk of neoplastic degeneration of adenomas.

Prolapsed Juvenile Polyp of the Anus in 2 Cases

Prolapsed Juvenile Polyp of the Anus in 2 Cases

Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome.

Bone morphogenetic protein receptor type 1A (BMPR1A) is responsible for two individual Mendelian diseases: juvenile polyposis syndrome and hereditary mixed polyposis syndrome 2, which have overlapping phenotypes. This study aimed to elucidate whether these two syndromes are just two subtypes of a single syndrome rather than two isolated syndromes. We sequenced the BMPR1A gene in 186 patients with polyposis and colorectal cancer, and evaluated the clinicopathological features and phenotypes of the probands and their available relatives with BMPR1A mutations. BMPR1A germline mutations were found in six probands and their three available relatives. The numbers of frameshift, nonsense, splice-site, and missense mutations were one, one, two, and two, respectively; two of the six mutations were novel. Typical juvenile polyps were found in only three patients. Two patients had colorectal cancer rather than any polyps. Diseases in BMPR1A germline mutation carriers vary from mixed polyposis to sole colorectal cancer, and typical juvenile polyps do not always occur in these carriers. The variety of phenotypes reflected the features of BMPR1A-mutation carriers, which should be recognized as a spectrum of one syndrome. Genetic testing may be a good approach to identifying BMPR1A-related syndromes.