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Revista Espanola de Patologia :... 2024Russell bodies (RBs) are round eosinophilic intracytoplasmic inclusions formed by condensed immunoglobulins in mature plasma cells, which are called Mott cells. These...
Russell bodies (RBs) are round eosinophilic intracytoplasmic inclusions formed by condensed immunoglobulins in mature plasma cells, which are called Mott cells. These cells are rarely found in the gastric tract, with even less cases reported in the colorectal region. There are still many questions about this event, as it is still unknown the relationship between the agents reported of increasing the probability of appearance of these cells and the generation of RBs. In this case report we describe the fifth patient presenting an infiltration of Mott cells in a colorectal polyp, being the second case with a monoclonal origin without a neoplastic cause, and the first one monoclonal for lambda. A comparison with previously similar reported cases is also done, and a possible etiopathogenic hypothesis proposed.
Topics: Humans; Colonic Polyps; Plasma Cells; Adenomatous Polyps
PubMed: 38599729
DOI: 10.1016/j.patol.2023.07.001 -
Wiadomosci Lekarskie (Warsaw, Poland :... 2024Aim: To explore the prevalence, clinical characteristics, and diagnostic aspects of diffuse familial adenomatous polyposis in childhood. This objective is accomplished...
OBJECTIVE
Aim: To explore the prevalence, clinical characteristics, and diagnostic aspects of diffuse familial adenomatous polyposis in childhood. This objective is accomplished through an extensive review of recent literature, and the presentation of case report from our clinical practice.
PATIENTS AND METHODS
Materials and Methods: We analyzed 75 scientific papers, the findings of which have been documented in the PubMed database. Our search criteria included keywords such as ≪diffuse familial adenomatous intestinal polyposis,≫ ≪children,≫ and ≪diagnosis.≫ Then we conducted a second-stage analysis that involved a detailed review of a practical case - the medical records of inpatient Kh.V. who had been diagnosed with familial adenomatous polyposis.
CONCLUSION
Conclusions: The analysis of the literature data is consistent with the findings from our clinical observations of familial adenomatous polyposis in a patient with complicated family anamnesis. It is worth noting that clinical features do not significantly differ across various types of polyposis. In cases of suspected familial adenomatous polyposis in adolescents, genetic testing is crucial.
Topics: Adolescent; Humans; Adenomatous Polyposis Coli; Intestines; Genetic Testing
PubMed: 38592998
DOI: 10.36740/WLek202402122 -
Journal of Clinical Medicine Feb 2024: Local excision by transanal endoscopic microsurgery (TEM) is considered an acceptable treatment for rectal adenomas with high-grade dysplasia (HGD). This study aims to...
: Local excision by transanal endoscopic microsurgery (TEM) is considered an acceptable treatment for rectal adenomas with high-grade dysplasia (HGD). This study aims to assess the likelihood of harboring an invasive carcinoma in preoperatively diagnosed HGD polyps and evaluate the risk factors for tumor recurrence in patients with final HGD pathology. : Data from patients who underwent TEM procedures for adenomatous lesions with HGD from 2005 to 2018 at the Rabin Medical Center, Hasharon Hospital, were analyzed. Collected data included patient demographics, preoperative workup, tumor characteristics and postoperative results. Follow-up data including recurrence assessment and further treatments were reviewed. The analysis included two subsets: preoperative pathology of HGD (sub-group 1) and postoperative final pathology of HGD (sub-group 2) patients. : Forty-five patients were included in the study. Thirty-six patients had a preoperative diagnosis of HGD, with thirteen (36%) showing postoperative invasive carcinoma. Thirty-two patients had a final pathology of HGD, and three (9.4%) experienced tumor recurrence. Large tumor size (>5 cm) was significantly associated with recurrence ( = 0.03). : HGD rectal polyps are associated with a significant risk of invasive cancer. Tumor size was a significant factor in predicting tumor recurrence in patients with postoperative HGD pathology. The TEM procedure is an effective first-line treatment for such lesions.
PubMed: 38592246
DOI: 10.3390/jcm13051419 -
Polish Archives of Internal Medicine May 2024
Topics: Humans; Adenomatous Polyposis Coli; Proctocolectomy, Restorative; Colonic Pouches; Adenocarcinoma; Male; Female; Adult; Ileal Neoplasms
PubMed: 38573197
DOI: 10.20452/pamw.16722 -
Cancer Science Jun 2024ABCC3 (also known as MRP3) is an ATP binding cassette transporter for bile acids, whose expression is downregulated in colorectal cancer through the Wnt/β-catenin...
ABCC3 (also known as MRP3) is an ATP binding cassette transporter for bile acids, whose expression is downregulated in colorectal cancer through the Wnt/β-catenin signaling pathway. However, it remained unclear how downregulation of ABCC3 expression contributes to colorectal carcinogenesis. We explored the role of ABCC3 in the progression of colorectal cancer-in particular, focusing on the regulation of bile acid export. Gene expression analysis of colorectal adenoma isolated from familial adenomatous polyposis patients revealed that genes related to bile acid secretion including ABCC3 were downregulated as early as at the stage of adenoma formation. Knockdown or overexpression of ABCC3 increased or decreased intracellular concentration of deoxycholic acid, a secondary bile acid, respectively, in colorectal cancer cells. Forced expression of ABCC3 suppressed deoxycholic acid-induced activation of MAPK signaling. Finally, we found that nonsteroidal anti-inflammatory drugs increased ABCC3 expression in colorectal cancer cells, suggesting that ABCC3 could be one of the targets for therapeutic intervention of familial adenomatous polyposis. Our data thus suggest that downregulation of ABCC3 expression contributes to colorectal carcinogenesis through the regulation of intracellular accumulation of bile acids and activity of MAPK signaling.
Topics: Humans; Colorectal Neoplasms; Multidrug Resistance-Associated Proteins; Deoxycholic Acid; Down-Regulation; MAP Kinase Signaling System; Cell Line, Tumor; Gene Expression Regulation, Neoplastic; Adenomatous Polyposis Coli
PubMed: 38566304
DOI: 10.1111/cas.16132 -
JCO Precision Oncology Mar 2024Patients with germline pathogenic variants (PVs) in develop tens (attenuated familial adenomatous polyposis [AFAP]) to innumerable (classic FAP) adenomatous polyps in...
PURPOSE
Patients with germline pathogenic variants (PVs) in develop tens (attenuated familial adenomatous polyposis [AFAP]) to innumerable (classic FAP) adenomatous polyps in their colon and are at significantly increased lifetime risk of colorectal cancer. Up to 10% of FAP and up to 50% of patients with AFAP who have undergone DNA-only multigene panel testing (MGPT) do not have an identified PV in . We seek to demonstrate how the addition of RNA sequencing run concurrently with DNA can improve detection of germline PVs in individuals with a clinical presentation of AFAP/FAP.
METHODS
We performed a retrospective query of individuals tested with paired DNA-RNA MGPT from 2021 to 2022 at a single laboratory and included those with a novel PV located in intronic regions infrequently covered by MGPT, a personal history of polyposis, and family medical history provided. All clinical data were deidentified in this institutional review board-exempt study.
RESULTS
Three novel variants were identified in six families and were shown to cause aberrant splicing because of the creation of a deep intronic cryptic splice site that leads to an RNA transcript subject nonsense-mediated decay. Several carriers had previously undergone DNA-only genetic testing and had received a negative result.
CONCLUSION
Here, we describe how paired DNA-RNA MGPT can be used to solve missing heritability in FAP families, which can have important implications in family planning and treatment decisions for patients and their families.
Topics: Humans; Retrospective Studies; Adenomatous Polyposis Coli; Genetic Testing; Colorectal Neoplasms; DNA
PubMed: 38564685
DOI: 10.1200/PO.23.00404 -
Clinical Gastroenterology and... Mar 2024The majority of patients with familial adenomatous polyposis (FAP) develop duodenal adenomas with a risk of progression to duodenal cancer. Endoscopic management of FAP...
BACKGROUND & AIMS
The majority of patients with familial adenomatous polyposis (FAP) develop duodenal adenomas with a risk of progression to duodenal cancer. Endoscopic management of FAP duodenal adenomas has been proposed as a less-invasive option than surgery, but available data still are limited. Our aims were to assess the feasibility and safety of endoscopic treatment in duodenal polyposis and to evaluate its long-term efficacy in terms of recurrence and malignant degeneration.
METHODS
FAP patients with stage IV duodenal polyposis were enrolled in 5 French centers as part of a national cohort and followed up for a median period of 5.66 years (interquartile range, 6.39 y). Primary outcomes were duodenal surgery-free and cancer-free survival. Two groups of patients were identified according to endoscopic procedures: group 1: resection and or destruction (by argon plasma coagulation) of duodenal polyps, and group 2: papillectomy.
RESULTS
Fifty-eight patients were enrolled (29 men; median age, 44 y). Endoscopic therapy was performed in 37 patients in group 1 and in 19 patients in group 2. Duodenal cancer-free and surgery-free survival were 95.8% at 5 years and 92.6% at 10 years. Four patients required surgery and 2 patients developed cancers. In the 58 patients, the calculated Spigelman score decreased from 9.24 points at entry to 6.35 at 5 years and then plateaued. Complications (mostly bleeding and perforation) occurred in 20 patients.
CONCLUSIONS
In this long-term cohort follow-up evaluation, endoscopic treatment of patients with severe duodenal polyposis appears relatively safe and effective as an alternative to surgery for the prevention of cancer.
PubMed: 38555039
DOI: 10.1016/j.cgh.2024.03.007 -
Journal of Gastrointestinal Surgery :... Jun 2024Ileal pouch-anal anastomosis (IPAA) is considered the preferred restorative surgical procedure for patients with ulcerative colitis and familial adenomatous polyposis...
BACKGROUND
Ileal pouch-anal anastomosis (IPAA) is considered the preferred restorative surgical procedure for patients with ulcerative colitis and familial adenomatous polyposis requiring proctocolectomy. Unfortunately, postoperative leaks remain a complication with potentially significant ramifications. This study aimed to provide a comprehensive description of the evaluation, management, and outcomes of leaks after primary IPAA procedures.
METHODS
Between 1995 and 2022, a total of 4058 primary IPAA procedures were performed at Cleveland Clinic. From a prospectively maintained pouch registry, we retrospectively reviewed the data of 237 patients who presented to the pouch center for management. Of these, 114 (3%) had undergone the index IPAA procedure at our clinic (de novo cases), whereas 123 patients had their index IPAA performed elsewhere. Data were missing for 43 patients, resulting in a final cohort of 194 patients.
RESULTS
Our cohort had an average age of 41 years (range, 16-76) at the time of leak diagnosis. Overall, 55.2% were males, average body mass index was 24.4 kg/m, and pain was the most prevalent presenting symptom (61.8%), followed by fever (34%). Leaks were confirmed through diagnostic testing in 141 cases, whereas 27.3% were detected intraoperatively. The most common initial diagnoses were pelvic abscess (47.4%) and enteric fistulas (26.8%), including cutaneous (9.8%), vaginal (7.2%), and bladder fistulas (3.1%). By location, leaks occurred at the tip of the "J" (52.6%), at the pouch-anal anastomotic site (35%), and in the body of the pouch (12.4%). A nonoperative management approach was initially attempted in 49.5% of cases, including antibiotic therapy, drainage, endoclip, and endo-sponge, with a success rate of 18.5%. Surgery was eventually required in 81.4% of patients, including (1) sutured or stapled pouch repair (52.5%), with diversion performed in 87.9% of these cases either before or during the salvage surgery; (2) pouch excision with neo-IPAA (22.7%), including 9 patients from the first group; and (3) pouch disconnection, repair, and reanastomosis (9.3%). Pouch failure occurred in 8.4%, with either pouch excision (11.1%) or permanent diversion (4.5%). Ultimately, 12.4% of patients (24 of 194) required permanent diversion, with all necessitating pouch excision. In the 30-day follow-up after salvage surgery, short-term complications arose in 38.7% of patients. The most common complications observed were ileus, pelvic abscess/sepsis, and fever.
CONCLUSION
Leaks after primary IPAA procedures represent an infrequent, yet challenging, complication. Despite attempts at nonoperative management, the success rate is limited. Salvage surgery is associated with a high pouch retention rate, underscoring its importance in the management of post-IPAA leaks.
Topics: Humans; Female; Male; Adult; Proctocolectomy, Restorative; Middle Aged; Anastomotic Leak; Retrospective Studies; Colonic Pouches; Young Adult; Adolescent; Colitis, Ulcerative; Aged; Intestinal Fistula; Reoperation; Adenomatous Polyposis Coli; Urinary Bladder Fistula; Vaginal Fistula; Urinary Fistula; Fever
PubMed: 38553296
DOI: 10.1016/j.gassur.2024.03.015 -
IScience Apr 2024Artificial intelligence (AI) has been found to assist in optical differentiation of hyperplastic and adenomatous colorectal polyps. We investigated whether AI can...
Artificial intelligence (AI) has been found to assist in optical differentiation of hyperplastic and adenomatous colorectal polyps. We investigated whether AI can improve the accuracy of endoscopists' optical diagnosis of polyps with advanced features. We introduced our AI system distinguishing polyps with advanced features with more than 0.870 of accuracy in the internal and external validation datasets. All 19 endoscopists with different levels showed significantly lower diagnostic accuracy (0.410-0.580) than the AI. Prospective randomized controlled study involving 120 endoscopists into optical diagnosis of polyps with advanced features with or without AI demonstration identified that AI improved endoscopists' proportion of polyps with advanced features correctly sent for histological examination (0.960 versus 0.840, p < 0.001), and the proportion of polyps without advanced features resected and discarded (0.490 versus 0.380, p = 0.007). We thus developed an AI technique that significantly increases the accuracy of colorectal polyps with advanced features.
PubMed: 38550997
DOI: 10.1016/j.isci.2024.109461 -
Molecular Cancer Research : MCR Jun 2024The pathogenesis of duodenal tumors in the inherited tumor syndromes familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) is poorly understood. This...
UNLABELLED
The pathogenesis of duodenal tumors in the inherited tumor syndromes familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) is poorly understood. This study aimed to identify genes that are significantly mutated in these tumors and to explore the effects of these mutations. Whole exome and whole transcriptome sequencing identified recurrent somatic coding variants of phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA) in 19/70 (27%) FAP and MAP duodenal adenomas, and further confirmed the established driver roles for APC and KRAS. PIGA catalyzes the first step in glycosylphosphatidylinositol (GPI) anchor biosynthesis. Flow cytometry of PIGA-mutant adenoma-derived and CRISPR-edited duodenal organoids confirmed loss of GPI anchors in duodenal epithelial cells and transcriptional profiling of duodenal adenomas revealed transcriptional signatures associated with loss of PIGA.
IMPLICATIONS
PIGA somatic mutation in duodenal tumors from patients with FAP and MAP and loss of membrane GPI-anchors may present new opportunities for understanding and intervention in duodenal tumorigenesis.
Topics: Humans; Glycosylphosphatidylinositols; Duodenal Neoplasms; Mutation; Adenomatous Polyposis Coli; Membrane Proteins; Carcinogenesis; Male; Female
PubMed: 38546397
DOI: 10.1158/1541-7786.MCR-23-0810