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Juvenile polyposis syndrome is a condition distinguished by numerous hyperproliferative polyps that can affect the entire gastrointestinal tract, though they are uncommon in the stomach. We report a rare case of a 70-year-old woman with a three-year history of epigastric pain and severe bloating who was referred to our department for gastric outlet obstruction due to massive gastric juvenile polyps also causing gastroparesis. The patient was successfully treated with a total gastrectomy.
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Juvenile polyposis syndrome lies within the family of hamartomatous polyposis syndromes characterized by polyps that appear benign but harbor an increased risk of colorectal and gastric cancer. This 27-year-old man with severe ulcerative colitis was discovered to have concomitant juvenile polyposis syndrome during diagnostic workup for gastrointestinal bleeding. The implications of this rare association complicate both diagnostic and treatment modalities since both diseases confer an increased risk of cancer.
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Bezoares , Pólipos , Humanos , Bezoares/diagnóstico , Bezoares/diagnóstico por imagen , Estómago , Cabello , Pólipos/diagnóstico , Pólipos/cirugíaRESUMEN
BACKGROUND: Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45-60% of JPS cases, with BMPR1a DCVs accounting for 17-38% of JPS cases. Within those with either a BMPR1a or SMAD4 DCV, there is phenotypic variability in location of polyps, risk of malignancy and extra-intestinal manifestations with limited published reports of gene-phenotype association or genotype-phenotype correlation. We aimed to identify any gene-phenotype association or genotype-phenotype correlation in BMPR1a to inform surveillance recommendations, and gene-specific modification to the ACMG classification of pathogenicity of DCVs. METHODS: A literature search was performed through EMBASE, MEDLINE and PubMed. Studies that were included explored BMPR1a DCV-related JPS or contiguous deletion of PTEN and BMPR1a. Data was also drawn from the BMPR1a specific databases on LOVD and ClinVar. RESULTS: There were 211 DCVs in BMPR1a identified, 82 from patients with JPS in the literature, and 17 from LOVD and 112 from ClinVar classified as pathogenic or likely pathogenic. These included missense, nonsense and frameshift variants and large deletions, occurring across all functional domains of the gene. Unlike in SMAD4 carriers, gastric polyposis and malignancy were not identified in our review in BMPR1a carriers, but colonic polyposis and malignancy occurred in carriers of either BMPR1a or SMAD4 DCVs. Those with contiguous deletion of PTEN and BMPR1a can present with JPS of infancy, with a severe phenotype of GI bleeding, diarrhoea, exudative enteropathy and rectal prolapse. No specific BMPR1a genotype-phenotype correlation could be ascertained including by variant type or functional domain. CONCLUSION: Phenotypic characteristics cannot be used to inform variant location in BMPR1a. However, the phenotypic characteristics of BMPR1a DCV carriers, being almost exclusively related to the colon and rectum, can assist in pathogenicity assessment of BMPR1a variants. Given these findings, we propose that carriers of BMPR1a DCVs should only require surveillance for colorectal polyps and malignancy, and that surveillance for gastric polyps and malignancy may be unnecessary. However variant location within BMPR1a does not support differential surveillance recommendations.
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Background: There are occasional reports of osseous metaplasia (OM) occurring in gastrointestinal polyps. We report 4 cases occurring in juvenile retention polyps. Case reports: Four juvenile retention polyps presented with rectal bleeding. Microscopically there was osseous metaplasia in addition to the typical surface ulceration and granulation tissue appearance. Discussion/conclusion: Osseous metaplasia was only detected on histopathologic examination of the resected polyps. Although the clinical significance is not established, OM suggests that the polyps have been present for a longer period of time.
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Coristoma , Pólipos , Humanos , Pólipos/patología , Recto/patología , Metaplasia/patología , Relevancia ClínicaRESUMEN
Introduction: Intestinal ganglioneuromatosis (IGN) is a rare condition with enteric involvement. Herein, we report a case series of pediatric IGN with a novel phenotypic and genotypic profile. Methods: The clinical presentation, histopathology, immunochemistry, molecular features, treatment, and prognosis of 3 cases of IGN were assessed. Results: The cases involved 3 boys with an age range of 1 year and 4 months to 8 years, mimicking juvenile polyps or pseudomembranous enteritis. One patient carried a novel germline mutation in RTEL1 (c.296C > T/p.Pro99Leu) along with variants in F11 (c.1489C > T/p.Arg497Xaa), NBAS (c.1514delC/p.Pro505Hisfs*15), and FECH (c.315-48T > C/splicing), who died due to intractable inflammation. The other two patients underwent recurrence without significant signs of systemic syndrome or malignant progression. Conclusion: This case series added to the phenotypic and genotypic spectrum of pediatric IGN, which requires the accumulation of more cases and research for in-depth understanding.
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OBJECTIVES: To describe a facilitated procedure of colorectal filling contrast ultrasonography (CFCUS) and explore its value in the diagnosis of pediatric juvenile polyps. METHODS: One hundred and eleven children with clinical signs of colorectal polyps admitted to our hospital between May 2018 and May 2021 were retrospectively reviewed. All children underwent conventional transabdominal ultrasonography (CTUS) and CFCUS prior to undergoing colonoscopy. Pathologic findings were used as the gold standard. Chi-squared tests and Mann-Whitney U tests were used for the statistical analysis. RESULTS: Forty-five children with fifty-two colorectal polyps were confirmed via pathological examination. The sensitivity, specificity, positive predictive value, and negative predictive value of CFCUS vs. CTUS were 92.3% versus 80.7%, 100% versus 100%, 100% versus 100%, and 93.3% versus 84.8%, respectively. The missed polyps were significantly smaller than the polyps detected in diameter (7.50 ± 2.12 mm vs. 19.62 ± 7.89 mm, p < 0.0001) by CTUS. A significant difference between CTUS and CFCUS was observed in the detection rate of polyps with a diameter < 1 cm (p = 0.031) and pedicles (p < 0.001). The kappa values for the assessment of Yamada's classification between CTUS and colonoscopy and CFCUS and colonoscopy were 0.51 and 0.84, respectively. Moreover, CFCUS incidentally revealed a punctate hyperechoic area on the surface of colonic polyps in six cases, which may be suggestive of a correlation with erosion and bleeding findings. CONCLUSION: CFCUS can increase the detection rate of polyps and pedicles, especially polyps with diameters <1 cm, and accurately evaluate Yamada's classification, providing useful preoperative information for colonoscopy.
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Pólipos del Colon , Neoplasias Colorrectales , Niño , Pólipos del Colon/diagnóstico por imagen , Colonoscopía , Humanos , Estudios Retrospectivos , Sensibilidad y Especificidad , Ultrasonografía/métodosRESUMEN
BACKGROUND: Colorectal juvenile polyps are rare and generally considered benign in adults. Carcinogenesis or neoplastic changes are rarely mentioned in the literature. We systematically evaluated the characteristics and potential malignancy of colorectal juvenile polyps in adults. METHODS: We retrospectively reviewed the medical records of 103 adults diagnosed with colorectal juvenile polyps from September 2007 to May 2020 at our hospital. The characteristics, endoscopic findings, occurrence of intraepithelial neoplasia, carcinogenesis and diagnostic value of chicken skin mucosa (CSM) were analyzed. RESULTS: The average age of patients with juvenile polyps was 43.2 years (range, 19 to 78 years). A total of 101 patients (101/103, 98.1%) had a single juvenile polyp, and two patients had multiple polyps (107 polyps in total). Polyp sizes ranged from 0.5 to 5 cm. One (1/107, 0.9%) juvenile polyp was cancerous, and 7 (7/107, 6.5%) developed low-grade intraepithelial neoplasia. Neoplasia and cancerization did not appear in the two patients with multiple polyps. A 27-year-old female had a 2-cm polyp with well-differentiated adenocarcinoma in the mucosa in the sigmoid colon with erosion on the surface. CSM was observed adjacent to 17 polyps, which were all located in the rectum and sigmoid colon, and one polyp showed low-grade intraepithelial neoplasia. CONCLUSIONS: Colorectal juvenile polyps occur in a wide range of locations and in variable sizes and numbers. These polyps are solitary in most patients and have neoplastic potential. CSM is not a tumorigenic marker in colorectal juvenile polyps and usually occurs in the distant colorectum. Colorectal juvenile polyps in adults may progress from low-grade intraepithelial neoplasia to high-grade intraepithelial neoplasia and then to carcinoma and should be treated when discovered and regularly followed as colorectal adenomas.
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Adenoma , Pólipos del Colon , Neoplasias Colorrectales , Adenoma/diagnóstico , Adulto , Anciano , Pólipos del Colon/patología , Colonoscopía , Neoplasias Colorrectales/patología , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
To advance the diagnostic accuracy of juvenile polyposis syndrome, an important yet often difficult diagnosis, we describe in detail a new and medically significant presentation. This hereditary and high-risk GI cancer syndrome is often associated with hereditary hemorrhagic telangiectasia, as in this 47-year-old female patient with a SMAD4 germline pathogenic mutation. Total gastrectomy revealed giant gastric folds with inflamed foveolar hyperplasia consuming most of the gastric cardia and body but sparing the antrum. Together, this gross and histologic pathology mimics Ménétrier's disease, an exceedingly rare and acquired protein-losing hypertrophic gastropathy. Classical gastric juvenile polyposis almost always and principally involves the antrum with multiple distinctive inflammatory polyps rather than the newly illustrated giant gastric folds of this case. No reports of giant gastric folds in juvenile polyposis have appeared in the literature. The distinction between juvenile polyposis and Ménétrier's disease is essential due to their disparate clinical outcomes and management. The differential considerations for giant gastric folds and inflamed gastric foveolar hyperplasia are fully reviewed. On the basis of this report, the differential for giant gastric folds must now expand to include juvenile polyposis syndrome. Genetic testing for pathogenic germline mutations of the 2 known causative genes of this syndrome, namely SMAD4 and BMPR1A, are readily available and should become part of the evaluation of giant gastric folds, particularly in view of the neoplastic and hereditary aspects of juvenile polyposis syndrome.
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BACKGROUND/AIMS: In childhood, clinical presentation of intes- tinal polyps is variable. Painless rectal red blood loss is the most common presenting sign. Most polyps are sporadic, isolated and benign. However, it is important to correctly identify exceptions. Rare inherited polyposis syndromes need to be recognized because of their increased risk of intestinal and extra-intestinal malignancies. Furthermore, a correct diagnosis and treatment of rare gastro-intestinal malignancies is crucial. METHODS: Between 2016 and 2018 we encountered 4 different types of intestinal polyps. A database search was performed and patient files were checked for clinical manifestations and histo- pathology. Literature was searched to recapitulate red flags for these syndromes, probability of underlying genetic disorders and diagnostic criteria. RESULTS: Between 2016 and 2018, 28 patients presented at the Ghent University Hospital with 30 juvenile polyps. Furthermore, we diagnosed juvenile polyposis syndrome, Li Fraumeni syndrome and familial adenomatous polyposis (FAP) in 1 patient each, whilst 2 FAP patients were in follow-up. Each of these diagnoses has a different lifetime risk of (extra)-intestinal malignancy and requires a different approach and follow-up. Histopathology and genetic testing play an important role in identifying these syndromes in pediatric patients. CONCLUSION: Although most intestinal polyps in childhood are benign juvenile polyps that require no follow-up, rare inherited syndromes should be considered and correctly diagnosed since adequate follow-up is necessary to reduce morbidity and mortality from both gastrointestinal and extraintestinal complications and malignancies.
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Poliposis Adenomatosa del Colon , Poliposis Intestinal , Pólipos Intestinales , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/genética , Adolescente , Niño , Pruebas Genéticas , Humanos , Poliposis Intestinal/diagnóstico , Poliposis Intestinal/genética , Pólipos Intestinales/diagnóstico , Pólipos Intestinales/genéticaRESUMEN
Juvenile polyposis syndrome (JPS) patients can have a significantly high burden of polyposis. Patient who undergoes prophylactic colectomy for polyps not amenable to endoscopic treatments requires close clinical surveillance to negate risk of malignancy from interval polyposis.
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Juvenile polyposis syndrome (JPS) is a non-cancerous benign growth predominant in a young population with an estimated incidence of one in 1, 00,000 to 1, 60,000 per year. It is a rare genetic presentation, which can occur sporadically as well. There is a 39% evident risk of developing colorectal carcinoma. Herein, we present an unusual case of a 13-year-old girl from a rural area with a negative family history of juvenile polyposis, who had complaints of rectal prolapse and rectal bleeding which were more pronounced after defecation. Her contrast computed tomography (CT) scan revealed a distended large bowel studded with multiple juvenile polyps throughout, the largest of which was detected on the mid rectum. Colo-colic intussusception was also found due to a large polyp at the hepatic flexure, inferiorly extending up to ascending colon and caecum. Pan proctocolectomy with ileoanal J pouch anastomosis was performed, bearing in mind the risk for colorectal cancer and her general state of health.
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BACKGROUND/AIMS: Colorectal polyps are a common cause of lower gastrointestinal bleeding in children. Our aim was to study the causes of isolated lower gastrointestinal bleeding and to analyze the characteristics of the colorectal polyps found in our cohort. METHODS: We retrospectively reviewed colonoscopic procedures performed between 2007 and 2015. Children with isolated lower gastrointestinal bleeding were included in the study. RESULTS: A total of 185 colonoscopies were performed for isolated lower gastrointestinal bleeding. The median patient age was 8 years, and 77 patients (41.6%) were found to have colonic polyps. Normal colonoscopy findings were observed and acute colitis was detected in 77 (41.6%) and 14 (7.4%) patients, respectively. Single colonic polyps and 2-3 polyps were detected in 73 (94.8%) and 4 (5.2%) patients with polyps, respectively. Of the single polyps, 69 (94.5%) were juvenile polyps, among which 65 (94.2%) were located in the left colon. CONCLUSION: Single left-sided juvenile polyps were the most common cause of isolated lower gastrointestinal bleeding in our study. It was rare to find multiple polyps and polyps proximal to the splenic flexure in our cohort. A full colonoscopy is still recommended in all patients in order to properly diagnose the small but significant group of patients with pathologies found proximal to the splenic flexure.
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BACKGROUND/AIMS: Colorectal polyps are a common cause of lower gastrointestinal bleeding in children. Our aim was to study the causes of isolated lower gastrointestinal bleeding and to analyze the characteristics of the colorectal polyps found in our cohort. METHODS: We retrospectively reviewed colonoscopic procedures performed between 2007 and 2015. Children with isolated lower gastrointestinal bleeding were included in the study. RESULTS: A total of 185 colonoscopies were performed for isolated lower gastrointestinal bleeding. The median patient age was 8 years, and 77 patients (41.6%) were found to have colonic polyps. Normal colonoscopy findings were observed and acute colitis was detected in 77 (41.6%) and 14 (7.4%) patients, respectively. Single colonic polyps and 2–3 polyps were detected in 73 (94.8%) and 4 (5.2%) patients with polyps, respectively. Of the single polyps, 69 (94.5%) were juvenile polyps, among which 65 (94.2%) were located in the left colon. CONCLUSIONS: Single left-sided juvenile polyps were the most common cause of isolated lower gastrointestinal bleeding in our study. It was rare to find multiple polyps and polyps proximal to the splenic flexure in our cohort. A full colonoscopy is still recommended in all patients in order to properly diagnose the small but significant group of patients with pathologies found proximal to the splenic flexure.
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Niño , Humanos , Estudios de Cohortes , Colitis , Colon , Colon Transverso , Pólipos del Colon , Colonoscopía , Hemorragia , Patología , Pólipos , Estudios RetrospectivosRESUMEN
OBJECTIVES: Juvenile polyps involving the stomach are uncommon. Massive gastric juvenile polyposis is even rarer. METHODS: We describe the clinicopathologic features of nine cases of massive gastric juvenile polyposis. RESULTS: All patients had anemia; four had hypoalbuminemia. The polyps were composed predominantly of dilated crypts lined by columnar epithelium and abundant edematous stroma with mixed inflammatory infiltrates. One patient had a poorly differentiated adenocarcinoma, arising in juvenile polyp-associated intraepithelial neoplasia. A second patient had a well-differentiated intramucosal adenocarcinoma arising in a juvenile polyp with high-grade dysplasia. Three of our cases had polyposis restricted to the stomach. Six (66.6%) had loss of SMAD4 immunoreactivity, making them subject to severe bleeding and hypoproteinemia, as well as developing severe dysplasia or adenocarcinoma. CONCLUSIONS: SMAD4 immunohistochemstry is a helpful ancillary diagnostic test in cases of suspected juvenile polyposis syndrome involving the stomach.
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Adenocarcinoma/patología , Pólipos Adenomatosos/patología , Poliposis Intestinal/congénito , Síndromes Neoplásicos Hereditarios/patología , Proteína Smad4/metabolismo , Neoplasias Gástricas/patología , Adenocarcinoma/diagnóstico , Adenocarcinoma/genética , Pólipos Adenomatosos/diagnóstico , Pólipos Adenomatosos/genética , Adulto , Análisis Mutacional de ADN , Epitelio/metabolismo , Epitelio/patología , Femenino , Mucosa Gástrica/metabolismo , Humanos , Inmunohistoquímica , Poliposis Intestinal/diagnóstico , Poliposis Intestinal/genética , Poliposis Intestinal/patología , Masculino , Persona de Mediana Edad , Mutación , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/genética , Estudios Retrospectivos , Proteína Smad4/genética , Estómago/patología , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Adulto JovenRESUMEN
OBJECTIVES: Colorectal polyps are among the common causes for rectal bleeding in children. We studied the clinical, colonoscopic, and histopathological features of colorectal polyps and polyposis syndrome in Indian children and adolescents. METHODS: Medical records of children and adolescents with colorectal polyps and polyposis syndrome were retrospectively reviewed from 2001 to 2014 at Department of Gastroenterology, in large tertiary care center of Mumbai. RESULTS: A total of 120 patients were found to have colonic polyps during study period. Mean age of presentation in children was 7.31 ± 4.05 years (range 2 to 19 years), with male-to-female ratio of 2.16:1. Rectal bleeding was presenting symptom in 95.8 % with mean duration of 12.6 ± 15 months. Majority of polyps (77.5 %) were juvenile, and 97.2 % were located in left colon. Solitary polyps were seen in 76.6 %, multiple polyps in 11.6 %, juvenile polyposis syndrome in 6.6 %, familial adenomatous polyposis in 4.2 %, and Peutz-Jeghers syndrome in 0.8 % of the children. The polyposis syndrome group had higher age at presentation (p = 0.00006), greater likelihood of anemia, abdominal pain, and diarrhea (p = 0.0001, 0.0002, and 0.0051, respectively). Likelihood of adenomatous change in polyps was higher in polyposis syndrome group (p = 0.0003). Left colonic polyps were more common in non-polyposis group, whereas pan-colonic polyps were more common in polyposis syndrome group (p < 0.00001). CONCLUSION: Presence of anemia, abdominal pain, diarrhea, higher age at presentation (more than 10 years), and history of polypectomy are clinical indicators of polyposis syndrome.
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Poliposis Adenomatosa del Colon/patología , Pólipos del Colon/patología , Dolor Abdominal/etiología , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/cirugía , Adolescente , Factores de Edad , Anemia/etiología , Niño , Preescolar , Pólipos del Colon/complicaciones , Pólipos del Colon/cirugía , Diarrea/etiología , Femenino , Hemorragia Gastrointestinal/etiología , Humanos , India , Lactante , Masculino , Enfermedades del Recto/etiología , Síndrome , Adulto JovenRESUMEN
Juvenile polyps are the most common colorectal polyps in children,usually present with painless,intermittent rectal bleeding.Colonoscopy is used to diagnose and juvenile polyps should be removed once found.The etiology and pathogenesis of juvenile polyps is still unclear.Histologically,the typical juvenile polyp is hamartoma with a prominent lamina propria,infiltration with inflammatory cells and cystic glands.This article reviewed the recent progress in the study of the clinical manifestation,histological characteristics,biological characteristics,diagnosis,treatment,pathogeny and molecular mechanisms of colorectal juvenile polyps in children.
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Juvenile polyps are relatively common polyps that affect predominantly young patients and may occur in isolated, multiple, and/or familial forms. They have been considered to be benign lesions without neoplastic potential, but for patients with multiple juvenile polyposis, the cumulative malignant risk is greater than fifty percents. In patients with a solitary polyp, the risks are minimal, and only a few cases of malignant change from a solitary juvenile polyp have been reported. We describe the case of a twenty one year old female with one solitary juvenile polyp, which contained a signet ring cell carcinoma in the mucosal layer.
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Juvenile polyps are relatively common polyps that affect predominantly young patients and may occur in isolated, multiple, and/or familial forms. They have been considered to be benign lesions without neoplastic potential, but for patients with multiple juvenile polyposis, the cumulative malignant risk is greater than fifty percents. In patients with a solitary polyp, the risks are minimal, and only a few cases of malignant change from a solitary juvenile polyp have been reported. We describe the case of a twenty one year old female with one solitary juvenile polyp, which contained a signet ring cell carcinoma in the mucosal layer.
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Femenino , Humanos , Carcinoma de Células en Anillo de Sello , Colon , Pólipos del Colon , PóliposRESUMEN
PURPOSE: The manner of rectal bleeding of auto-amputated polyps (AP) is similar to juvenile polyps (JP) or Meckel's diverticula (MD). We conducted this study to characterize the clinical spectrum of AP. METHODS: Fourteen patients were enrolled this study who were diagnosed AP due to painless rectal bleeding. The clinical data of AP was assessed and then compared with the clinical data of JP and MD retrospectively. RESULTS: The prevalence of AP was 10.4% (14/135) and high in younger patients compared with that of JP (p=0.042 below 2 years). Whereas JP was more common in patients aged 2 to 5 years (p=0.005). Male was predominant in AP (p=0.008 AP vs JP). The manner of rectal bleeding in AP group was sudden and transient. There was no significant difference in time interval between onset of rectal bleeding and diagnosis between the 3 groups. However AP was diagnosed in 9 patients (64.3%) within 7 days after onset of rectal bleeding, but JP was diagnosed in 5 patients (4.1%) in the same period (p<0.001). All of AP were located in the rectum and the sigmoid colon. The mean hemoglobin was 11.3+/-1.5 g/dL in AP, 11.8+/-1.3 g/dL in JP, and 8.4+/-1.2 g/dL in MD (p<0.001, only significant in MD). CONCLUSION: AP may be considered in male older than 1 year with transient and sudden onset or increase of painless rectal bleeding without drop of hemoglobin level.