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This study aims to investigate the prevalence of chronic rhino sinusitis in patients with concha bullosa, a common anatomical variation characterised by pneumatization of the middle turbinates. Chronic rhino sinusitis is an inflammatory disorder of the paranasal sinuses and the linings of the nasal passages that lasts for 12 weeks or longer. The incidence of chronic rhino sinusitis was assessed among patients with diagnosed concha bullosa, focusing on the presence of symptoms, and severity. There seems to be a strong relationship between concha bullosa and the development of chronic rhino sinusitis To screen the patients of concha bullosa for chronic rhino sinusitis. To find out of the percentage of chronic rhino sinusitis in patients with concha bullosa. To determine the sinuses affected and their respective sides. This is a retrospective study to investigate the incidence of chronic rhino sinusitis in patients diagnosed with concha bullosa. The study was conducted at Vydehi institute of medical science and research centre, Whitefield, Bangalore and the data from 01/02/23 to 01/09/23 were analyzed. Medical records of patients with diagnosed concha bullosa were identified through electronic medical records and imaging databases (CT scan paranasal sinuses). Inclusion criteria consisted of patients with a confirmed diagnosis of concha bullosa based on radiological imaging (CT scans) and clinical assessment.Exclusion criteria: patients with previous sinus surgeries and malignancy. The study's methods focused on retrospectively assessing the incidence of chronic rhino sinusitis in patients diagnosed with concha bullosa. In the above study it is concluded that concha bullosa plays major role in development of chronic rhino sinusitis. Thus after confirming the presence of concha bullosa practitioner should keep in mind the possibility of development of chronic rhino sinusitis. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusion Diverting ileostomy (DS) after restorative proctocolectomy (RPC) can be omitted in selected patients. Its omission could improve functional outcomes and quality of life (QoL), as has been demonstrated in patients after proctectomy. The aim of this study was to report the impact of diverting ileostomy on functional outcomes and QoL after ileal pouch‐anal anastomosis (IPAA).This was a retrospective study including all patients operated (2015–2020) for RPC with IPAA. Functional outcome was evaluated by validated scores (LARS, Wexner, Öresland, pouch functional score [PFS] and the ileoanal pouch syndrome severity [IPSS] score). Global health‐related QoL was evaluated with the SF‐36. We also analysed demographic characteristics, morbidity, correlation between functional outcomes and QoL.Among 179 eligible patients, 150 responded (84%): S− (no stoma = 78; 52%) and S+ (had stoma = 72; 48%). Overall morbidity and anastomotic leak rates were 46% and 9.3%, respectively without difference between the groups. Medians for the functional scores were comparable between the S− and S+ group, respectively: 18 [12.5–31] versus 18 [11–31], p = 0.48 for LARS; 9 [7–11] versus 9 [7–12], p = 0.23 for Wexner's score; 6 [3–13] versus 8 [5–11], p = 0.22 for Öresland's score, 6 [3–13] versus 6.8 [4–12], p = 0.174 for PFS score, and 40 [35–45] versus 46 [42–51], p = 0.045 for IPSS score. The SF‐36 summary score was comparable between the two groups without any difference in eight specific health dimensions. After propensity score matching, results were still comparable between the two groups for all scores. Linear regression found a significant correlation between all QoL domains and all functional scores (p < 0.001).DS for IPAA does not alter either functional outcomes or QoL and can be omitted in selected patients. [ABSTRACT FROM AUTHOR]

Abstract Introduction Mantle cell lymphoma is a rare lymphoma of the gastrointestinal tract that may present as multiple lymphomatous polyposis. We report a case of lymphomatous polyposis with a review of the literature. Case report A 56-year-old man of Black ethnicity and Ivorian nationality with no relevant past medical history, consulted for a sudden onset symptoms of gastrointestinal obstruction, which evolved over 2 days. Macroscopic examination revealed the presence of multiple polyploid formations of the colonic mucosa. Histology showed diffuse lymphomatous proliferation of submucosa consisting off small lymphoid cells with a hyperchromatic crenelated nucleus, suggesting lymphomatous polyposis. Immunohistochemical examination showed expression by the tumor cells of antibodies to CD20, CD5, Bcl2, and cyclin D1. They did not express antibodies to CD10 and CD23. The Ki67 proliferation index was 25%. We have thus retained the diagnosis of mantle cell lymphomatous polyposis. Conclusion Multiple lymphomatous polyposis is a rare entity characterized by the presence of numerous gastrointestinal polyploid lesions sometimes involving several segments of the gastrointestinal tract. Typical lymphoma presenting as lymphomatous polyposis is mantle cell lymphoma; although, other tumors may have this aspect.

Background: The objective of this study was to evaluate, the clinical benefit of benralizumab in patients with uncontrolled severe asthma associated with chronic rhinosinusitis with nasal polyposis (CRSwNP). Methods: The study included patients with uncontrolled severe asthma associated with CRSwNP who started therapy with benralizumab. Pulmonary function, eosinophilia, IgE, comorbidity, changes in the Asthma Control Test (ACT), Asthma Control Questionnaire (ACQ), Visual Analogue Scale (VAS), Quality of Life (AQLQ), VAS (obstruction, drip, anosmia, facial pressure), SNOT-22, decrease or withdrawal of steroids and other medication, hospital admissions and emergency visits were analysed. The FEOS scale and EXACTO were employed in the assessment of response. Results: We analyzed 58 patients who completed minimal treatment at 12 months. After treatment with benralizumab, exacerbations were reduced by 82% (p < 0.001), steroid cycles by 84% (p < 0.001), emergencies visit by 83% p < 0.001) and admissions by 76% (p < 0.001), improving all the scales for asthma control, (p < 0.001). In terms of lung function, differences were observed in FVC% (p < 0.001), FEV1% (p < 0.001), and FEV1/FVC% (69.5 ± 10 vs. 74 ± 10, p < 0.001). In relation to CRSwNP, differences were observed in SNOT-22 (54.66 ± 17 vs. 20.24 ± 9, p < 0.001), VAS obstruction (7.91 ± 1 vs. 1.36 ± 1, p < 0. 001), VAS drip (7.76 ± 1 vs. 1.38 ± 1, p < 0.001), VAS anosmia (7.66 ± 1 vs. 1.38 ± 1, p < 0.001) and VAS facial pressure (7.91 ± 1 vs. 1.22 ± 1, p < 0.001). The mean FEOS score after treatment was 73 ± 14. A complete response/super response was achieved in 33 patients (57%), good response in 16 (28%) and partial response in 9 (15%). Conclusions: The administration of benralizumab to patients with uncontrolled severe asthma associated with CRSwNP has been demonstrated to improve nasal symptoms, asthma control and lung function. This resulted in a reduction in the need for oral steroids, maintenance and rescue medication, emergency room visits, and hospital admissions, with 57% of patients achieving the clinical remission criteria. [ABSTRACT FROM AUTHOR]

Liver kinase B1 (Lkb1), encoded by serine/threonine kinase (Stk11), is a serine/threonine kinase and tumor suppressor that is strongly implicated in Peutz–Jeghers syndrome (PJS). Numerous studies have shown that mesenchymal‐specific Lkb1 is sufficient for the development of PJS‐like polyps in mice. However, the cellular origin and components of these Lkb1‐associated polyps and underlying mechanisms remain elusive. In this study, we generated tamoxifen‐inducible Lkb1flox/flox;Myh11‐Cre/ERT2 and Lkb1flox/flox;PDGFRα‐Cre/ERT2 mice, performed single‐cell RNA sequencing (scRNA‐seq) and imaging‐based lineage tracing, and aimed to investigate the cellular complexity of gastrointestinal polyps associated with PJS. We found that Lkb1flox/+;Myh11‐Cre/ERT2 mice developed gastrointestinal polyps starting at 9 months after tamoxifen treatment. scRNA‐seq revealed aberrant stem cell‐like characteristics of epithelial cells from polyp tissues of Lkb1flox/+;Myh11‐Cre/ERT2 mice. The Lkb1‐associated polyps were further characterized by a branching smooth muscle core, abundant extracellular matrix deposition, and high immune cell infiltration. In addition, the Spp1–Cd44 or Spp1–Itga8/Itgb1 axes were identified as important interactions among epithelial, mesenchymal, and immune compartments in Lkb1‐associated polyps. These characteristics of gastrointestinal polyps were also demonstrated in another mouse model, tamoxifen‐inducible Lkb1flox/flox;PDGFRα‐Cre/ERT2 mice, which developed obvious gastrointestinal polyps as early as 2–3 months after tamoxifen treatment. Our findings further confirm the critical role of mesenchymal Lkb1/Stk11 in gastrointestinal polyposis and provide novel insight into the cellular complexity of Lkb1‐associated polyp biology. © 2024 The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

Copyright of Colo-Proctology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Colo-Proctology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or surgery are believed to be important contributing factors. The occurrence of paraspinal desmoid tumor in pediatric patients is extremely uncommon. Here, we present an exceedingly rare case of a pediatric patient with no surgical or family history who developed a paraspinal desmoid tumor. A 9-year-old female patient presented with 4 months of progressive back pain, right lower extremity weakness, and numbness. Spinal imaging revealed a left epidural paraspinal mass compressing her thoracic spinal cord and extending into the left thoracic cavity. A multidisciplinary approach with neurosurgery and thoracic surgery enabled gross total resection of the lesion. The patient had complete resolution of her symptoms with no signs of residual tumor on postoperative imaging. Pathology revealed a desmoid tumor that avidly stained for beta-catenin. On her last followup, she developed a recurrence, to which she was started on sorafenib therapy. Desmoid tumors are rare connective tissue neoplasms that often occur after local tissue trauma, such as that caused by surgery. This report presents a rare case of a pediatric paraspinal desmoid tumor that occurred in a patient with no surgical or family history. Such tumors should undergo surgical resection for symptomatic relief and tissue diagnosis. Close clinical and radiographic surveillance are essential in these patients due to the high recurrence rates of desmoid tumor. [ABSTRACT FROM AUTHOR]

Abstract Background Colibactin, a genotoxin produced by polyketide synthase harboring (pks + ) bacteria, induces double-strand breaks and chromosome aberrations. Consequently, enrichment of pks + Escherichia coli in colorectal cancer and polyposis suggests a possible carcinogenic effect in the large intestine. Additionally, specific colibactin-associated mutational signatures; SBS88 and ID18 in the Catalogue of Somatic Mutations in Cancer database, are detected in colorectal carcinomas. Previous research showed that a recurrent APC splice variant perfectly fits SBS88. Methods In this study, we explore the presence of colibactin-associated signatures and fecal pks in an unexplained polyposis cohort. Somatic targeted Next-Generation Sequencing (NGS) was performed for 379 patients. Additionally, for a subset of 29 patients, metagenomics was performed on feces and mutational signature analyses using Whole-Genome Sequencing (WGS) on Formalin-Fixed Paraffin Embedded (FFPE) colorectal tissue blocks. Results NGS showed somatic APC variants fitting SBS88 or ID18 in at least one colorectal adenoma or carcinoma in 29% of patients. Fecal metagenomic analyses revealed enriched presence of pks genes in patients with somatic variants fitting colibactin-associated signatures compared to patients without variants fitting colibactin-associated signatures. Also, mutational signature analyses showed enrichment of SBS88 and ID18 in patients with variants fitting these signatures in NGS compared to patients without. Conclusions These findings further support colibactins ability to mutagenize colorectal mucosa and contribute to the development of colorectal adenomas and carcinomas explaining a relevant part of patients with unexplained polyposis.

Simple Summary: Colorectal cancer is often associated with MUTYH mutations, but their connection to breast cancer remains unclear. We aimed to assess if MUTYH mutations contribute to breast cancer susceptibility. Analyzing data from 3598 patients, we found MUTYH mutations in 1.6%, with a significant association in colonic polyposis cases. However, our findings did not reveal a substantial association between MUTYH mutations and breast cancer. These insights emphasize the need for cautious interpretation of MUTYH mutations in breast cancer risk assessments. Background: MUTYH has been implicated in hereditary colonic polyposis and colorectal carcinoma. However, there are conflicting data refgarding its relationship to hereditary breast cancer. Therefore, we aimed to assess if MUTYH mutations contribute to breast cancer susceptibility. Methods: We retrospectively reviewed 3598 patients evaluated from June 2018 to June 2023 at the Hereditary Cancer Unit of La Paz University Hospital, focusing on those with detected MUTYH variants. Results: Variants of MUTYH were detected in 56 patients (1.6%, 95%CI: 1.2–2.0). Of the 766 patients with breast cancer, 14 patients were carriers of MUTYH mutations (1.8%, 95%CI: 0.5–3.0). The prevalence of MUTYH mutation was significantly higher in the subpopulation with colonic polyposis (11.3% vs. 1.1%, p < 0.00001, OR = 11.2, 95%CI: 6.2–22.3). However, there was no significant difference in the prevalence within the subpopulation with breast cancer (1.8% vs. 1.5%, p = 0.49, OR = 1.2, 95%CI: 0.7–2.3). Conclusion: In our population, we could not establish a relationship between MUTYH and breast cancer. These findings highlight the necessity for a careful interpretation when assessing the role of MUTYH mutations in breast cancer risk. [ABSTRACT FROM AUTHOR]

Key clinical message: Here we reported a particular case of MUTYH‐associated polyposis (MAP) that had only one rare heterozygous variant, but some particular clinical manifestations contributed to occur in this male patient by only one defective MUTYH allele were worth of further investigation. We reported a case of MAP. It is about a 33‐year‐old man with chief complaints of hematochezia who had multiple polyps that were found in his colon via colonoscopy. He followed his doctor's advice and performed a genetic analysis examination. Germline test was positive for a major heterozygous variant: chr1:45800165 on the MUTYH gene. MUTYH gene sequence analysis confirmed the following heterozygous variant: c.55CT (p.R19X) in exon 2 (ClinVar NM_001128425). Unfortunately, his mother and daughter have the ILK variant according to genetic analysis. However, this variant at the site was not detected in his father. Various types of polyps were found on repeated colonoscopy, which tended to become latent cancerous in the future. This case indicated that awareness of the risk of carcinogenesis of polyps in carriers of monoallelic variants might accordingly increase, and our understanding of the type of genetically related disease will be enhanced by us. [ABSTRACT FROM AUTHOR]

Background: The combined costs of direct medical care and time away from work due to chronic rhinosinusitis and sinonasal polyposis are substantial. Inflammation is central to the pathophysiology of Chronic Rhinosinusitis, and a wide range of medication, including topical corticosteroids, antibiotics, saline irrigations, and systemic steroids, is available to treat it with surgery being done in cases not responding to maximal medical therapy. Material and Methods: This study was conducted at the Department of ENT at GSL Medical College and General Hospital, Rajamahendravaram, and Nimra Institute of Medical Sciences, Vijayawada, Andhra Pradesh, India between, January 2022 to May 2023. In this study, forty patients with Chronic Rhinosinusitis with Sinonasal Polyposis(CRSwP)are analyzed. In this study, pre and post operative systemic steroids were administered to 20 patients, while the other 20 received placebos. Critical data analysis was performed on operative and clinical information. Results: This investigation is a double-blind, placebo-controlled trial assessing the effectiveness of pre- and post-operative systemic steroids in improving surgical outcomes for patients undergoing ESS for the treatment of CRSwP. We employed subjective and objective indicators of success. The major purpose of the research was to determine how steroid use affected these measures of subjective and objective well-being. Conclusion: Finally, adjuvant steroids, which are given, provide a better symptom relief and can help prevent postoperative issues such as scarring, synechiae formation, postoperative crusting, and recurrence as well. [ABSTRACT FROM AUTHOR]

Abstract Although prednisolone treatment is effective in Cronkhite–Canada syndrome (CCS), its mechanisms of action are poorly understood. We performed analyses of cytokine expression and fecal microbiota in a patient with the concurrent occurrence of CCS and rectal cancer, in whom regression of polyposis was achieved by prednisolone. Regression of CCS polyps was accompanied by downregulation of proinflammatory cytokine expression and alterations in microbiota composition; a decrease in Bacteroides fragilis and Peptostreptococcus anaerobius with the promotion of inflammation. We could not completely exclude the possibility that alterations in fecal microbiota composition might be influenced by the presence of advanced cancer. However, this case suggests that the administration of PSL might lead to the regression of CCS polyps through alterations in gut microbiota composition and suppression of proinflammatory cytokine responses.

Background/Aims Patients with more than 10 cumulative polyps might involve a greater genetic risk of colorectal neoplasia development. However, few studies have investigated the risk factors of polyposis recurrence and development of advanced neoplasms among patients with non-hereditary colorectal polyposis. Methods This study included patients (n=855) with 10 or more cumulative polyps diagnosed at Severance Hospital from January 2012 to September 2021. Patients with known genetic mutations related to polyposis, known hereditary polyposis syndromes, insufficient information, total colectomy, and less than 3 years of follow-up were excluded. Finally, 169 patients were included for analysis. We collected clinical data, including colonoscopy surveillance results, and performed Cox regression analyses of risk factors for polyposis recurrence and advanced neoplasm development. Results The 169 patients were predominantly male (84.02%), with a mean age of 64.19±9.92 years. The mean number of adenomas on index colonoscopy was 15.33±8.47. Multivariable analysis revealed history of cancer except colon cancer (hazard ratio [HR], 2.23; 95% confidence interval [CI], 1.23–4.01), current smoking (HR, 2.39; 95% CI, 1.17–4.87), and detection of many polyps (≥15) on index colonoscopy (HR, 2.05; 95% CI, 1.21–3.50) were significant risk factors for recurrence of polyposis. We found no statistically significant risk factors for advanced neoplasm development during surveillance among our cohort. Conclusions The presence of many polyps (≥15) on index colonoscopy, history of cancer except colon cancer, and current smoking state were significant risk factors for polyposis recurrence among patients with non-hereditary colorectal polyposis.

Abstract Background WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype–phenotype analysis currently challenging. Case presentation We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature. Conclusions Although the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations.

Key clinical message Here we reported a particular case of MUTYH‐associated polyposis (MAP) that had only one rare heterozygous variant, but some particular clinical manifestations contributed to occur in this male patient by only one defective MUTYH allele were worth of further investigation. We reported a case of MAP. It is about a 33‐year‐old man with chief complaints of hematochezia who had multiple polyps that were found in his colon via colonoscopy. He followed his doctor's advice and performed a genetic analysis examination. Germline test was positive for a major heterozygous variant: chr1:45800165 on the MUTYH gene. MUTYH gene sequence analysis confirmed the following heterozygous variant: c.55CT (p.R19X) in exon 2 (ClinVar NM_001128425). Unfortunately, his mother and daughter have the ILK variant according to genetic analysis. However, this variant at the site was not detected in his father. Various types of polyps were found on repeated colonoscopy, which tended to become latent cancerous in the future. This case indicated that awareness of the risk of carcinogenesis of polyps in carriers of monoallelic variants might accordingly increase, and our understanding of the type of genetically related disease will be enhanced by us.

The management of pediatric Peutz–Jeghers Syndrome (PJS) focuses on the prevention of intussusception complicating small intestinal (SI) polyposis. This hinges on the accurate appraisal of the polyp burden to tailor therapeutic interventions. Video Capsule Endoscopy (VCE) is an established tool to study SI polyps in children, but an in-depth characterization of polyp burden in this population is lacking. Methods: We performed a retrospective longitudinal cross-sectional analysis of VCE studies in pediatric PJS patients at our institution (CMKC) from 2010 to 2020. Demographic, clinical, and VCE findings reported by three reviewers in tandem were accrued. Polyp burden variables were modeled as functions of patient and study characteristics using linear mixed models adjusted for clustering. Results: The cohort included 15 patients. The total small bowel polyp count and largest polyp size clustered under 30 polyps and <20 mm in size. Luminal occlusion correlated closely with the estimated polyp size. Polyp distribution favored proximal (77%) over distal (66%) small bowel involvement. The adjusted largest polyp size was greater in males. Double Balloon Enteroscopy was associated with a decreased polyp burden. Conclusions: The polyp burden in pediatric PJS patients favors the proximal third of the small intestine, with relatively small numbers and a polyp size amenable to resection through enteroscopy. Male gender and older age were related to an increased polyp burden. [ABSTRACT FROM AUTHOR]

NTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467 index patients by KASP assay or next-generation sequencing, including 228 patients with colorectal polyposis and 239 patients with familial/personal history of multiple tumors (excluding multiple breast/ ovarian/polyposis). Three NTHL1 tumor syndrome families were identified in the group of patients with polyposis and none in patients with familial/personal history of multiple tumors. Altogether, we identified nine affected patients with polyposis (two of them diagnosed after initiating colorectal cancer surveillance) with biallelic pathogenic or likely pathogenic NTHL1 variants, as well as two index patients with one pathogenic or likely pathogenic NTHL1 variant in concomitance with a missense variant of uncertain significance. Here we identified a novel inframe deletion classified as likely pathogenic using the ACMG criteria, supported also by tumor mutational signature analysis. Our findings indicate that the NTHL1 tumor syndrome is a multi-tumor syndrome strongly associated with polyposis and not with multiple tumors without polyposis. [ABSTRACT FROM AUTHOR]

Copyright of Revista Pediatría de Atención Primaria is the property of LUA Ediciones 3.0 S.L. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype–phenotype analysis currently challenging. Case presentation: We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature. Conclusions: Although the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations. [ABSTRACT FROM AUTHOR]

Nasal polyposis was initially considered a tumor, but came to be seen as a chronic inflammatory mucosal disease during the second half of the 20th century. Although pathogenesis remains unclear, this has not prevented progress in diagnosis and treatment, both surgical and medical, based on the hypotheses of chronic rhinosinusitis with type-2 inflammation and autoimmune inflammation maintained by the vestigial olfactory mucosa of the ethmoid. [ABSTRACT FROM AUTHOR]

NTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467 index patients by KASP assay or next-generation sequencing, including 228 patients with colorectal polyposis and 239 patients with familial/personal history of multiple tumors (excluding multiple breast/ovarian/polyposis). Three NTHL1 tumor syndrome families were identified in the group of patients with polyposis and none in patients with familial/personal history of multiple tumors. Altogether, we identified nine affected patients with polyposis (two of them diagnosed after initiating colorectal cancer surveillance) with biallelic pathogenic or likely pathogenic NTHL1 variants, as well as two index patients with one pathogenic or likely pathogenic NTHL1 variant in concomitance with a missense variant of uncertain significance. Here we identified a novel inframe deletion classified as likely pathogenic using the ACMG criteria, supported also by tumor mutational signature analysis. Our findings indicate that the NTHL1 tumor syndrome is a multi-tumor syndrome strongly associated with polyposis and not with multiple tumors without polyposis.

Peutz–Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%–15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2–83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed. [ABSTRACT FROM AUTHOR]

Autosomal recessive conditions are common in consanguineous populations. Since consanguinity is common in the Israeli Arab population, we evaluated the rate of MUTYH polyposis (MAP) among polyposis patients in this population and studied Pathogenic Variants (PVs) spectrum. We reviewed health records of all Arab and Druze polyposis patients referred for counseling during 2013–2020 who fulfilled the Israeli Genetic Society criteria for MUTYH/APC testing, in a tertiary center in Northern Israel and four additional gastro-genetic clinics in Israel. The Northern cohort included 37 patients from 30 unrelated families; 8(26.6%) carried bi-allelic MUTYH PVs. The major variant p.Glu452del was detected in 6/8 Druze and Muslim families who shared the same haplotype. Other PVs detected in both cohorts included p.Tyr56Ter, p.His57Arg, c.849+3A>C, p.Ala357fs, and p.Tyr151Cys. Among bi-allelic carriers, 88% reported consanguinity, and 100% had positive family history for polyposis or colorectal cancer (CRC). Generally, the age of CRC was 10 years younger than reported in the general MAP population. MAP accounted for 27% of polyposis cases in the Arab population of Northern Israel. PVs spectrum is unique, with high frequency of the founder variant p.Glu452del. Our results may inform the genetic testing strategy in the Israeli Arab population. [ABSTRACT FROM AUTHOR]

Objective: Report the rate of successful pregnancy in a national cohort of women with either an ileal pouch anal (IPAA) or ileorectal (IRA) anastomosis constructed after colectomy for inflammatory bowel disease (IBD) or polyposis. Background: Fertility after IPAA is probably impaired. All available data are corroborated by only small sample size studies. It is not known whether construction of IPAA versus IRA influences the odds of subsequently achieving a successful pregnancy, especially with increased utilization of the laparoscopic approach. Methods: All women (age: 12–45 y) undergoing IRA or IPAA in France for polyposis or IBD, between 2010–2020, were included. A control population was defined as women aged from 12 to 45 years undergoing laparoscopic appendicectomy during the same period. The odds of successful pregnancy were studied using an adjusted survival analysis. Results: A total of 1491 women (IPAA=872, 58%; IRA=619, 42%) were included. A total of 220 deliveries (15%) occurred during the follow-up period of 71 months (39–100). After adjustment, the odds of successful pregnancy was not significantly associated with type of anastomosis (after IPAA: Hazard Ratio [HR]=0.79, 95% confidence interval=0.56–1.11, P =0.17). The laparoscopic approach increased the odds of achieving successful pregnancy (HR=1.79, 95% confidence interval=1.20–2.63, P =0.004). IRA and IPAA significantly impacted fertility when compared with the control population (P <0.001). Conclusions: In this large cohort study, total colectomy for polyposis or IBD was associated with reduced fertility compared with the general population. No difference in odds of achieving successful pregnancy was found between IRA and IPAA after adjustment. This analysis suggests laparoscopic surgery may be associated with greater likelihood of pregnancy. [ABSTRACT FROM AUTHOR]

Abstract Background Typically, in cases of adenomatous polyposis, colorectal cancer develops in the third or fourth decade of life. We report the case of a female patient with colorectal polyposis who developed adenocarcinoma at 8 years of age. Case presentation An 8-year-old girl was admitted with a 4-year history of occasional bloody stools. Colonoscopy revealed colon polyposis and histopathological assessment confirmed a well-differentiated adenocarcinoma in the adenomatous polyps, so laparoscopy-assisted proctocolectomy was performed in the lithotomy position by a simultaneous abdominal and anal approach. To completely resect the rectal mucosa, excision was commenced just distal to the dentate line. After the mucosal resection up to the peritoneal reflection level, an inverted muscular cuff was cut circumferentially, and the terminal ileum was pulled through the muscular cuff and anastomosed to the anal canal. Histopathology revealed multiple adenomatous polyps and scattered well-differentiated tubular adenocarcinomas (tub1) in the adenomatous polyps and the non-polypoid mucosal lesions. Because complete resection was achieved, additional adjuvant chemotherapy was not administered. Polymerase chain reaction (PCR)-direct sequencing of the entire coding region and the exon–intron junctions, and real-time PCR of DNA extracted from blood cells, revealed no mutations of either APC or MUTYH. No deletions, duplications, translocations or inversions of APC, MUTYH and GREM1 genes were found using multiplex ligation-dependent probe amplification (MLPA) and G-banding analysis. Multi-gene panels sequencing for polyposis syndromes or hereditary colorectal cancers, and trio-whole exome sequencing was conducted. However, no candidate pathogenic variants of genes were detected in de novo dominant or autosomal recessive model. Somatic mutation of APC was not detected in 4 polyps by loss of heterozygosity analysis at a single nucleotide polymorphism in intron 14. The patient has remained disease-free for 5 years. Currently, the patient is on loperamide and passes stool 5 times/day without any soiling. Conclusions The genetic analysis suggests that she may have a germline mutation at unscreened region of these genes or in unidentified FAP gene. The patient will be carefully followed up for residual rectal carcinoma and for the development of other cancers.

The hamartomatous polyposis syndromes are a set of clinically distinct disorders characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz–Jeghers syndrome, and PTEN hamartoma tumor syndrome. Although each of the syndromes has distinct phenotypes, the hamartomatous polyps can be challenging to differentiate histologically. Additionally, each of these syndromes is associated with increased lifetime risks of gene-specific and organ-specific cancers, including those outside of the gastrointestinal tract. Germline pathogenic variants can be identified in a subset of individuals with these syndromes, which facilitates molecular diagnosis and subsequent gene-enabled management in the setting of genetic counseling. Although the malignant potential of hamartomatous polyps remains elusive, timely recognition of these syndromes is important and enables presymptomatic cancer surveillance and management before symptom exacerbation. Presently, there are no standard agents to prevent the development of polyps and cancers in the hamartomatous polyposis syndromes. [ABSTRACT FROM AUTHOR]

Germline genetic testing for inherited cancer risk is increasingly being performed with multigene panel testing with MUTYH often included on colorectal cancer‐ and polyposis‐focused panels, as well as on broader pan‐cancer panels. With up to 1%–2% of the general population being monoallelic MUTYH carriers, pathogenic/likely pathogenic (P/LP) variants in MUTYH are one of the most common findings on multigene cancer panels. However, little is known about patient experience and understanding of monoallelic MUTYH P/LP variants, nor whether such findings influence medical management recommendations and familial communication, which this study aims to better understand. Monoallelic P/LP MUTYH carriers were recruited from the Prospective Registry of Multiplex Testing (PROMPT) and completed a cross‐sectional self‐report survey on sociodemographic characteristics, medical and family history, experiences with MUTYH genetic testing, genetics and MUTYH knowledge, perceived cancer risk, and familial communication. Of 115 eligible PROMPT participants, 49 (43%) completed the survey who were primarily female (94%), white (96%), had a history of cancer (61%), and a median age of 51.4 years. Most participants (61%) reported satisfaction with how their healthcare provider managed their genetic test result and care, and 65% of survey participants reported their provider recommended colonoscopy based on their genetic test results. Participants' responses also reflected variable levels of knowledge regarding cancer risks and screening recommendations for MUTYH carriers. The majority (98%) of participants shared their genetic test results with at least some of their relatives; however, only 13% of eligible relatives reportedly underwent cascade testing. Taken together, this study provides needed insight into the overall experiences of monoallelic MUTYH carriers and highlights numerous areas for improvement in clinician education, communication, and management of these individuals. [ABSTRACT FROM AUTHOR]

Pyloric outflow obstructions can be caused by several types of lesions. When a thickened gastric wall and pyloric mass are detected, malignant neoplasia must be differentiated from chronic hypertrophic pyloric gastropathy. CT can characterize gastric tumors. However, based on the authors' review of the literature, there is limited information about the CT findings of pyloric lesions. The purpose of this retrospective case series study was to assess the CT findings of canine pyloric lesions. The following CT parameters were recorded: anatomical area, involved area, lesion shape, growth patterns of wall thickening lesions, enhancement pattern of the lesion in the early and delayed phases, lymphomegaly, and pulmonary metastasis. Seventeen dogs were included in this study and had the following final diagnoses: hyperplasia (five dogs), adenoma (five dogs), adenocarcinoma (three dogs), gastrointestinal stromal tumor (GIST; two dogs), polyposis (one dog), and pyogenic granuloma (one dog). Hyperplasia, adenoma, and polyposis formed mass lesions that involved the mucosal layer. Lymphomegaly was detected in two Jack Russell terriers with hyperplasia; however, the causes were unknown because we did not perform biopsies. All adenocarcinomas formed wall‐thickened lesion that involved the outer layer, with lymphomegaly. All GISTs formed mass lesion that involved the outer layer. The pyogenic granulomas formed symmetric wall‐thickened lesion that involved the mucosal and outer layers. CT facilitated the characterization of canine pyloric lesions using contrast enhancement, based on the involved area and lesion shape. However, polyposis may require caution in diagnosis based on CT findings alone. [ABSTRACT FROM AUTHOR]

NTHL1‐associated tumor syndrome (NATS) is an autosomal recessive condition characterized by an increased risk for colorectal polyposis and colorectal cancer (CRC). Only 46 case reports have been previously published. In a retrospective review, we analyzed the clinical histories of six patients found to have NATS after genetic counseling and testing. NATS appears to be associated with an increased risk for colorectal polyposis, CRC, female breast cancer, meningiomas, and endometrial cancer. Although research is limited, prior publications have reported a multi‐tumor predisposition for individuals with biallelic pathogenic or likely pathogenic variants in NTHL1. Additional data are necessary to further define the cancer risks so affected individuals can be appropriately managed. [ABSTRACT FROM AUTHOR]

Colorectal cancer (CRC), one of the most prevalent and deadly cancers worldwide, generally evolves from adenomatous polyps. The understanding of the molecular mechanisms underlying this pathological evolution is crucial for diagnostic and prognostic purposes. Integrative systems biology approaches offer an optimal point of view to analyze CRC and patients with polyposis. The present study analyzed the association networks constructed from a publicly available array of 113 serum metabolites measured on a cohort of 234 subjects from three groups (66 CRC patients, 76 patients with polyposis, and 92 healthy controls), which concentrations were obtained via targeted liquid chromatography-tandem mass spectrometry. In terms of architecture, topology, and connectivity, the metabolite-metabolite association network of CRC patients appears to be completely different with respect to patients with polyposis and healthy controls. The most relevant nodes in the CRC network are those related to energy metabolism. Interestingly, phenylalanine, tyrosine, and tryptophan metabolism are found to be involved in both CRC and polyposis. Our results demonstrate that the characterization of metabolite–metabolite association networks is a promising and powerful tool to investigate molecular aspects of CRC. [ABSTRACT FROM AUTHOR]

MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous pathogenic variant in MUTYH in exon 13, c.1187G > A (p.Gly396Asp) as well as a heterozygous variant of unknown significance (VUS) in MUTYH in exon 14, c.1379T > C (p.Leu460Ser). We interpret the VUS as pathogenic in light of the patient's phenotype; the fact that the VUS was in trans with a known pathogenic variant; and because all the in silico predictors suggested, it was likely to be deleterious. This case highlights the importance of a gastroenterologist recognizing the indication for genetic testing in a patient with greater than ten adenomas, the importance of a genetic counselor in interpretation of results, and is the first report of the specific variant in the literature with clinical information to suggest that it is likely pathogenic.

BackgroundPatients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance.MethodsIndividuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number.ResultsThe distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p

Background 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. Methods 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. Results 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. Conclusions 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. [ABSTRACT FROM AUTHOR]

Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, NTHL1-associated polyposis, Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir–Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm. [ABSTRACT FROM AUTHOR]

The British Society of Gastroenterology in 2020 updated its guidelines around the management of hereditary colorectal cancer. This document includes recommendations for the management of patients with serrated polyposis in combination with updated (2019) post-polypectomy surveillance guidelines, which replaced the 2017 position statement on serrated polyps in the colon and rectum. This article is intended to serve as an introduction to serrated polyposis, current practice recommendations and the challenges associated with the diagnosis and treatment of serrated polyposis. It covers the definition of serrated polyps and serrated polyposis, the endoscopic approaches for optimising detection and the follow up care that is put in place, for both patients and their families from the perspective of a nurse endoscopist. [ABSTRACT FROM AUTHOR]

Gastric metastasis from renal cell carcinoma (RCC) is extremely rare, occurring in 0.2% of all RCC cases. Owing to its low prevalence, metachronous gastric metastasis from RCC may be underdiagnosed, and the imaging findings have not been well-established. Herein we present a case of metastatic RCC manifesting as a gastric polyp in a 70-year-old female along with a literature review on the imaging findings of gastric metastases from RCC. In patients presenting with gastric hyper-enhancing polypoid masses, metastasis from RCC should be considered as a differential diagnosis.

The management of pediatric Peutz–Jeghers Syndrome (PJS) focuses on the prevention of intussusception complicating small intestinal (SI) polyposis. This hinges on the accurate appraisal of the polyp burden to tailor therapeutic interventions. Video Capsule Endoscopy (VCE) is an established tool to study SI polyps in children, but an in-depth characterization of polyp burden in this population is lacking. Methods: We performed a retrospective longitudinal cross-sectional analysis of VCE studies in pediatric PJS patients at our institution (CMKC) from 2010 to 2020. Demographic, clinical, and VCE findings reported by three reviewers in tandem were accrued. Polyp burden variables were modeled as functions of patient and study characteristics using linear mixed models adjusted for clustering. Results: The cohort included 15 patients. The total small bowel polyp count and largest polyp size clustered under 30 polyps and Conclusions: The polyp burden in pediatric PJS patients favors the proximal third of the small intestine, with relatively small numbers and a polyp size amenable to resection through enteroscopy. Male gender and older age were related to an increased polyp burden.

Introduction. Chronic rhinosinusitis is a disease that occurs everywhere, characterized by inflammation of the mucous membrane of the paranasal sinuses and nasal cavity. If it is impossible to eliminate the causes of the recurrent disease with medical therapy, the use of surgical treatment help to recover the normal functioning of the ostium, including the ostiomeatal complex to improve ventilation and drainage of the paranasal sinuses and recover nasal breathing to relieve chronic inflammation.Purpose of the study. Assessment of the degree of intraoperative bleeding in patients with chronic rhinosinusitis.Materials and methods. On the basis of the FGBU SPB Research Institute of ENT of the Ministry of Health of the Russian Federation in the period from 2020 to 2021. the study of the effect of local intranasal glucocorticosteroids (INGKS) in the intraoperative period in patients with chronic polypous rhinosinusitis was carried out. The total amount of blood loss during surgery for chronic polypous rhinosinusitis in patients who used mometasone furoate preoperatively and in patients not taking topical hormonal drugs was analyzed.Results. In the study group, the average blood loss per operation was 257 ml, in the control group – 401 ml. In patients who took intranasal glucocorticosteroids during surgery, the intensity of bleeding is less pronounced. Undoubtedly, there are many reasons that affect the intensity of bleeding in general, however, a decrease in the inflammatory response in the nasal cavity and a decrease in inflammatory metabolites have a beneficial effect on the state of the nasal mucosa.Conclusion. The use of intranasal glucocorticosteroids in the preoperative period has a positive effect on reducing the inflammatory process in the nasal cavity, which helps to reduce the intensity of intraoperative bleeding.