A Solitary Peutz-Jeghers Hamartomatous Polyp in the Gastric Body: A Case Report.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic condition characterized by the development of hamartoma-type intestinal polyposis and areas of skin pigmentation, among other signs. Additionally, the occurrence of solitary Peutz-Jeghers polyps is exceedingly rare. We present the case of a 50-year-old female with a medical history of hypothyroidism, chronic gastritis, and dyslipidemia, who presented with dyspeptic symptoms and occasional rectal bleeding. Endoscopic examination revealed a solitary hamartomatous polyp in the gastric body and other gastrointestinal abnormalities. The patient underwent treatment and is being monitored with regular endoscopic studies and evaluations for other potential neoplasms. This case underscores the importance of considering the syndrome as a potential differential diagnosis. It emphasizes the necessity of a multidisciplinary approach to managing and monitoring such cases, particularly the early detection of possible neoplasms.

Polyposis of gastrointestinal tract after COVID-19 mRNA vaccination: a report of two cases.

Cronkhite-Canada syndrome is a rare gastrointestinal polyposis syndrome with distinctive clinical features and endoscopic findings. Diagnosis can be challenging without suspicion, and the disease carries high mortality due to complications such as infection, gastrointestinal bleeding, and malignancies. This paper presents two cases of Cronkhite-Canada syndrome occurring after coronavirus disease 2019 (COVID-19) mRNA vaccination. Both cases exhibited typical clinical findings, including hypogeusia, onychodystrophy, alopecia, and weight loss. Typical polyposis in the gastrointestinal tract was confirmed through endoscopies. As symptomatic treatment did not improve the symptoms, corticosteroids were administered, and symptoms and laboratory test results improved immediately. The patients improved upon corticosteroids tapering. These cases illustrate typical presentations of Cronkhite-Canada syndrome and the course of the disease following corticosteroid treatment. Additionally, they suggest the possibility that Cronkhite-Canada syndrome may be triggered by COVID-19 mRNA vaccination.

A rare case of Gardner syndrome in an African adult male: A case report.

Gardner's syndrome with the complete manifestation of colonic and extracolonic features is uncommon. Therefore, every clinician should view extracolonic features with a high index of suspicion. This may be key to early diagnosis, definitive management in these patients and importantly, helps prevent malignant transformation of existing colonic polyps.

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

Peutz-Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous polyps, and a higher incidence of gastrointestinal tract, genitourinary, and extracolonic malignancies. Recurrent acute intestinal obstruction, in particular intussusception in the young, is a serious sequalae of PJS. Case presentation: 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. Clinical findings and investigations: While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72 g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2-4 mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5-10 mm in size). Acute intussusception of the intestine was discovered by ultrasonography. Interventions and outcome: 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. Relevance and impact: 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.

Atypical Whipple's disease with special endoscopic manifestations: A case report.

BACKGROUND: Whipple's disease is a rare systemic infection caused by Tropheryma whipplei. Most patients present with nonspecific symptoms, and routine laboratory and imaging examination results also lack specificity. The diagnosis often relies on invasive manipulation, pathological examination, and molecular techniques. These difficulties in diagnosing Whipple's disease often result in misdiagnosis and inappropriate treatments. CASE SUMMARY: This paper reports on the case of a 58-year-old male patient who complained of fatigue and decreased exercise capacity. The results of routine blood tests indicated hypochromic microcytic anemia. Results of gastroscopy and capsule endoscopy showed multiple polypoid bulges distributed in the duodenal and proximal jejunum. A diagnosis of small intestinal adenomatosis was initially considered; hence, the Whipple procedure, a pylorus-preserving pancreaticoduodenectomy, was performed. Pathological manifestations showed many periodic acid-Schiff-positive macrophages aggregated in the intestinal mucosa of the duodenum, upper jejunum, and surrounding lymph nodes. Based on comprehensive analysis of symptoms, laboratory findings, and pathological manifestations, the patient was finally diagnosed with Whipple's disease. After receiving 1 mo of antibiotic treatment, the fatigue and anemia were significantly improved. CONCLUSION: This case presented with atypical gastrointestinal manifestations and small intestinal polypoid bulges, which provided new insight on the diagnosis of Whipple's disease.

Gardner's syndrome: Simultaneous diagnosis and treatment in monozygotic twins.

Gardner's syndrome (GS) is a very rare autosomal dominant multisystem disease. Osteomas, skin and soft tissue tumors are present with gastrointestinal polyposis. The polyps have very high malignancy potentials. If prophylactic resection is not performed, colorectal cancer development is inevitable in all patients with GS. Polyposis is usually asymptomatic. Therefore, careful evaluation of extraintestinal findings of the disease is very important for early diagnosis. In this article, diagnosis and treatment of GS are presented in monozygotic twins, which have not been previously described in the literature. The diagnostic process, which started with dental complaints of one case, was carried out in an effective manner and then, prophylactic surgery was performed in twins. This article aimed to make clinicians and dentists attentive for early diagnosis of disease and to review treatment options.

AXIN2-associated adenomatous colorectal polyposis

Abstract: Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ~3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The adenomatous polyposis coli (APC) andmutY DNA glycosylase (MUTYH) germline mutations are the main genetic causes related to colorectal polyposis. Nevertheless, in many cases mutations in these genes have not been identified. The aim of the present case report is to describe a rare case of genetic colorectal polyposis associated with the axis inhibition protein 2 (AXIN2) gene. Case Report: The first colonoscopy screening of a 61-year-old male patient with no known family history of CRC revealed ~ 50 colorectal polyps. A histological evaluation of the resected polyps showed low-grade tubular adenomas. Germline genetic testing through a multigene panel for cancer predisposition syndromes revealed a pathogenic variant in the AXIN2 gene. In addition to colorectal polyposis, the patient had mild features of ectodermal dysplasia: hypodontia, scant body hair, and onychodystrophy. Discussion: The AXIN2 gene acts as a negative regulator of the Wnt/β -catenin signaling pathway, which participates in development processes and cellular homeostasis. Further studies are needed to support the surveillance recommendations for carriers of the AXIN2 pathogenic variant. (AU)

Aggressive infantile myofibromatosis with intestinal involvement.

BACKGROUND: Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM. CASE PRESENTATION: We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy. CONCLUSIONS: PDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.

[Weight loss, diarrhea and dystrophic alterations of the fingernails in an 80-year-old male patient]. / Gewichtsverlust, Diarrhöen und dystrophe Veränderungen der Fingernägel bei einem 80-jährigen Patienten.

Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhea. We report the case of an 80-year-old patient presenting with weight loss, diarrhea and dystrophic changes of the fingernails. The symptoms began 3 months prior to the admission. In the outpatient area an esophagogastroduodenoscopy and a coloscopy had already been performed, showing a polyposis of the stomach and an unclear generalized colitis. The admission was due to a progressive worsening of the patient's physical condition including further weight loss. The endoscopy showed an unusual continuous ileopancolitis as well as a polyposis of the stomach. The histological examination revealed hyperplastic polyps with a marked stromal edema. Together with the ectodermal changes a CCS was diagnosed and treatment with corticosteroids, intravenous nutrition and proton pump inhibitors was initiated. In the further course of the hospital stay a moderately reduced left ventricular function was diagnosed and the patient had to be temporarily monitored in the intensive care unit due to a prolonged QTc time. In the follow-up 3 months later the patient showed good clinical and endoscopic response to the treatment with cessation of the diarrhea, weight gain of 8 kg and regrowth of the fingernails and head hair; however, the left ventricular function remained moderately impaired.

Serrated Polyposis Syndrome with a Synchronous Colon Adenocarcinoma Treated by an Endoscopic Mucosal Resection.

Serrated polyposis syndrome (SPS) can transform to malignant lesions through the sessile serrated pathway and traditional serrated pathway. These pathways may cause rapid neoplastic progression compared to the adenoma-carcinoma sequence, which may cause interval colorectal cancer. The authors experienced a case of SPS with a synchronous colon adenocarcinoma that was treated with an endoscopic mucosal resection. In pathology reviews, other parts of the adenocarcinoma showed sessile serrated adenoma. Therefore, patients with SPS have a potential for malignant transformation, highlighting the need for strict colonoscopy surveillance starting at the time of SPS diagnosis.

Cronkhite-Canada syndrome: report of a rare case and review of the literature.

Cronkhite-Canada syndrome is rarely encountered in clinical practice. Notably, most patients with Cronkhite-Canada syndrome exhibit hypoalbuminemia. Because the cause of Cronkhite-Canada syndrome is unknown, no specific treatment method has been established. Here, we describe a 59-year-old woman with Cronkhite-Canada syndrome in whom clinical manifestations were considerably relieved after treatment with prednisone.

Gardner syndrome with maxillofacial manifestation: A case report.

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Since the maxillofacial findings usually precede gastrointestinal polyps, the dentist plays a crucial role in the diagnosis of Gardner syndrome, and panoramic radiography is an important tool in the diagnosis of the disease. We report here a case of Gardner syndrome in a patient showing mandibular osteomas and impacted teeth. Also, cases of Gardner syndrome with maxillofacial manifestations reported in the literature were reviewed and compared with ours. According to the findings, osteomas are important manifestations of this syndrome, and regardless of the absence of family history of intestinal polyposis, their occurrence should prompt diagnostic evaluation for this disease.

[Clinicopathologic features of Cronkhite-Canada syndrome and the significance of IgG4-positive plasma cells infiltration].

Objective: To analyze the clinical and pathological features of Cronkhite-Canada syndrome (CCS), and to investigate the significance of IgG4 positive plasma cell infiltration. Methods: Clinical presentations, endoscopic appearances and morphological features of 18 patients diagnosed with CCS at Peking Union Medical College Hospital during 2000-2016 were included in the study.There were 11 male and 7 female patients. IgG4 and IgG immunohistochemical stains were performed in total of 55 biopsies from the patients (36 polyps, 10 adenoma and 9 surrounding mucosa) and a control group of 58 cases (19 colonic mucosa, 7 colonic hyperplastic polyps, 9 inflammatory bowel disease and 23 adenoma). Results: Average age of CCS was 59 years (range 47-69 years) and the male to female ratio was 11∶7. All patients had at least one ectoderm lesion. Fourteen cases had testicular abnormalities. Digestive tract symptoms were encountered in most cases. Four patients had a history of connective tissue disease. Endoscopically, multiple polyps were found to involve entire gastrointestinal tract except the esophagus. Morphologically, CCS polyps were characterized by prominent mucosal edema, mild to moderate inflammation, glands hyperplasia and cystic dilatation. Ten cases had colonic adenoma and one case had rectal adenocarcinoma. While none of the cases reached the diagnostic criteria of IgG4 disease, the positive rate of IgG4 positive plasma cells in adenoma of CCS was significantly higher than that in polyps and surrounding mucosa of CCS (60.0%∶13.9%∶0, P<0.01). The positive rate of IgG4 positive plasma cells of adenoma and polyp of CCS had an increased tendency compared to that of adenoma and polyp of control group (60.0%∶34.8%; 13.9%∶0). Conclusion: The findings in the study do not support that CCS is a variant of IgG4 disease, although IgG4 positive plasma cells may be involved in the pathogenesis of CCS, which may be explored in future investigations.

Collaborating genomic, transcriptomic and microbiomic alterations lead to canine extreme intestinal polyposis.

Extreme intestinal polyposis in pet dogs has not yet been reported in literature. We identified a dog patient who developed numerous intestinal polyps, with the severity resembling human classic familial adenomatous polyposis (FAP), except the jejunum-ileum junction being the most polyp-dense. We investigated this dog, in comparison with 22 other dogs with spontaneous intestinal tumors but no severe polyposis, and with numerous published human cancers. We found, not APC mutation, but three other alteration pathways as likely reasons of this canine extreme polyposis. First, somatic truncation mutation W411X of FBXW7, a component of an E3 ubiquitin ligase, over-activates MYC and cell cycle-promoting network, accelerating crypt cell proliferation. Second, genes of protein trafficking and localization are downregulated, likely associated with germline mutation G406D of STAMBPL1, a K63-deubiquitinase, and MYC network activation. This inhibits epithelial apical-basolateral polarity establishment, preventing crypt cell differentiation. Third, Bacteroides uniformis, a commensal gut anaerobe, thrives and expresses abundantly thioredoxin and nitroreductase. These bacterial products could reduce oxidative stress linked to host germline mutation R51X of CYB5RL, a cytochrome b5 reductase homologue, decreasing cell death. Our work emphasizes the close collaboration of alterations across the genome, transcriptome and microbiome in promoting tumorigenesis.

Descripción del uso de cápsula endoscópica en un hospital público pediátrico / Description of capsule endoscopy use in a pediatric public hospital

INTRODUCCIÓN: La cápsula endoscópica (CE) es a una técnica no invasiva que permite la visualización de la mucosa del intestino delgado. Se utiliza para el diagnóstico de lesiones no accesibles con otros exámenes. El objetivo fue describir la experiencia de uso de CE en un hospital público pediátrico en Chile. PACIENTES Y MÉTODO: Estudio retrospectivo en que se revisaron los casos en que se utilizó CE en el Hospital Dr. Luis Calvo Mackenna desde 2010 hasta la fecha. Se registraron datos demográficos, clínicos, hallazgos, complicaciones, diagnóstico y conducta. RESULTADOS: Se realizaron 20 procedimientos en 16 pacientes, 11 varones (69%), mediana de edad 12 años (rango 3 a 15 años). Las indicaciones incluyeron estudio de poliposis (60%), sospecha de enfermedad de Crohn (20%), hemorragia digestiva de origen desconocido (15%) y anemia de causa desconocida (5%). Diecisiete estudios estaban alterados (85%) y 11 llevaron a un diagnóstico o cambio de conducta clínica (55%). Los hallazgos principales fueron pólipos y erosiones intestinales. No se produjeron complicaciones. CONCLUSIONES: La CE es una técnica útil y segura en niños, factible de realizar en un hospital público pediátrico.

INTRODUCTION: Capsule endoscopy (CE) is a non-invasive technique that allows visualization of small intestine mucosa. It is used for diagnosis of lesions not accessible with other tests. Our goal was to describe the experience using CE in a pediatric public hospital in Chile. PATIENTS AND METHOD: A retrospective study was carried out to review the cases in which CE was used at Dr. Luis Calvo Mac kenna Hospital from 2010 to date. Demographic and clinical data, findings, complications, diagnosis and treatment were recorded. RESULTS: Twenty procedures were performed in 16 patients, 11 men (69%), median age 12 years (range 3 to 15 years). Indications included polyposis study (60%), suspected Crohn disease (20%), obscure gastrointestinal bleeding (15%) and undiagnosed anemia (5%). Seventeen studies were altered (85%) and 11 led to a diagnosis or clinical behavior change (55%). There were no complications. CONCLUSIONS: CE is a useful and safe technique in children, feasible to perform in a pediatric public hospital.

Enfermedad de Menetrier como entidad poco común / Ménétrier's disease as a rare entity

La enfermedad de Menetrier se define como la poliposis gástrica múltiple. Es una entidad infrecuente y se caracteriza por pólipos hiperplásicos de menos de 2 centímetros de diámetro, que rara vez se malignizan. Se presenta una paciente con enfermedad de Menetrier, que llevó seguimiento endoscópico durante tres años y debido al aumento progresivo del número de pólipos y la sintomatología se realizó una gastrectomía subtotal sin complicaciones intra ni posoperatorias(AU)

The Ménétrier's disease is defined as multiple gastric polyposis. It is an infrequent entity characterized by hyperplastic polyps less than 2 centimeters in diameter, which rarely become malignant. We present a patient with Ménétrier's disease, who underwent endoscopic follow-up for three years and, due to the progressive increase in the number of polyps and the symptomatology, was performed a subtotal gastrectomy without intraoperative or postoperative complications(AU)

[Small Bowel Tumors and Polyposis: How to Approach and Manage?]

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Until the advent of capsule endoscopy (CE) and device-assisted enteroscopy (DAE) coupled with the advances in radiology, physicians had limited diagnostic examination for small bowel examination. CE and new radiologic imaging techniques have made it easier to detect small bowel tumors. DAE allows more diagnosis and deeper reach in small intestine. CT enteroclysis/CT enterography (CTE) provides information about adjacent organs as well as pictures of the intestinal lumen side. Compared to CTE, Magnetic resonance enteroclysis/enterography provides the advantage of soft tissue contrast and multiplane imaging without radiation exposure. Treatment and prognosis are tailored to each histological subtype of tumors.

The TLR3/TICAM-1 signal constitutively controls spontaneous polyposis through suppression of c-Myc in Apc Min/+ mice.

BACKGROUND: Intestinal tumorigenesis is promoted by myeloid differentiation primary response gene 88 (MyD88) activation in response to the components of microbiota in Apc Min/+ mice. Microbiota also contains double-stranded RNA (dsRNA), a ligand for TLR3, which activates the toll-like receptor adaptor molecule 1 (TICAM-1, also known as TRIF) pathway. METHODS: We established Apc Min/+ Ticam1 -/- mice and their survival was compared to survival of Apc Min/+ Myd88 -/- and wild-type (WT) mice. The properties of polyps were investigated using immunofluorescence staining and RT-PCR analysis. RESULTS: We demonstrate that TICAM-1 is essential for suppression of polyp formation in Apc Min/+ mice. TICAM-1 knockout resulted in shorter survival of mice compared to WT mice or mice with knockout of MyD88 in the Apc Min/+ background. Polyps were more frequently formed in the distal intestine of Apc Min/+ Ticam1 -/- mice than in Apc Min/+ mice. Infiltration of immune cells such as CD11b+ and CD8α+ cells into the polyps was detected histologically. CD11b and CD8α mRNAs were increased in polyps of Apc Min/+ Ticam1 -/- mice compared to Apc Min/+ mice. Gene expression of inducible nitric oxide synthase (iNOS), interferon (IFN)-γ, CXCL9 and IL-12p40 was increased in polyps of Apc Min/+ Ticam1 -/- mice. mRNA and protein expression of c-Myc, a critical transcription factor for inflammation-associated polyposis, were increased in polyps of Apc Min/+ Ticam1 -/- mice. A Lactobacillus strain producing dsRNA was detected in feces of Apc Min/+ mice. CONCLUSION: These results imply that the TLR3/TICAM-1 pathway inhibits polyposis through suppression of c-Myc expression and supports long survival in Apc Min/+ mice.

Síndrome de Gardner: relato de caso e breve revisão da literatura / Gardner Syndrome: case report and brief review of the literature

Modelo do estudo: Relato de caso. Importância do problema e comentários: A Síndrome de Gardner trata-se de uma variante da Polipose Adenomatosa Familiar (PAF), com associação de pólipos gastrointestinais, tumores de partes moles e tumores ósseos. É uma desordem rara e o diagnóstico precoce é crucial para redução da morbimortalidade. O presente estudo relata um caso de Síndrome de Gardner com seus achados clínicos e radiológicos, além de apresentar breve revisão da literatura. (AU)

Type of study: Case report. Relevance and comments: Gardner Syndrome is a variant of Familial Adenomatous Polyposis (FAP), with the association of gastrointestinal polyps, soft tissue tumors and bone tumors. It is a rare disorder and early diagnosis is crucial to reduce its morbimortality. The present report illustrates a case of Gardner Syndrome with its clinical and radiologic features, as well as a brief review of the literature. (AU)

Extensive colorectal lymphomatous polyposis complicated by acute intestinal obstruction: a case report.

BACKGROUND: Multiple lymphomatous polyposis is a rare type of gastrointestinal lymphoma that extensively infiltrates the intestine. Multiple lymphomatous polyposis originates from the mantle zone of the lymphoma follicle and is considered to be a mantle cell lymphoma, which is a relatively aggressive type of B-cell non-Hodgkin's lymphoma. We report an unusual case of a patient with multiple lymphomatous polyposis with extensive colorectal involvement and acute intestinal obstruction, an atypical complication of this rare disease. On the basis of this case study, the pitfalls in gastrointestinal tract lymphomatous polyposis diagnosis and prognosis, as well as the treatment options, are discussed. CASE PRESENTATION: Our patient was a 76-year-old white woman with asthenia, cramps, and swelling in the lower left quadrant of the abdomen, as well as weight loss within the previous 5 months. A colonoscopy revealed polyps in the rectum, sigmoid colon, descending colon, and right and left colic flexures. A biopsy revealed lymphomatous infiltration of the intestinal wall. Because of the large size of the polypoid masses, which narrowed the colonic lumen in multiple locations, the patient developed acute intestinal obstruction and was referred for laparotomy. She underwent a total proctocolectomy with a permanent ileostomy and a left salpingo-oophorectomy. Microscopic examination showed the presence of a multicentric, low-grade, small lymphocytic lymphoma. Immunohistochemical analysis revealed positive immunostaining for CD79a, CD20, and CD45. These results were consistent with the diagnosis of mantle cell lymphoma. Two weeks after surgery and prior to discharge, but before the beginning of chemotherapy, the patient's general condition worsened as she experienced a severe and progressive respiratory tract infection, advanced respiratory insufficiency, and septic shock, and she ultimately died. CONCLUSIONS: Mantle cell lymphoma develops as a progressive and aggressive disease with widespread polyposis of the gastrointestinal tract. The intensive chemotherapeutic regimens usually result in the regression of macroscopic and microscopic lesions; however, remissions are short in duration, and the median length of patient survival is 3-4 years. Mantle cell lymphoma is a rare disease that should be part of the differential diagnosis of polypoid diseases of the large intestine.