Epithelial Lesions Research Articles

Mediterranean diet and colorectal adenomas: a systematic review and meta-analysis of observational studies.

Colorectal adenomas (CRAs) are epithelial lesions of the large bowel that can develop into colorectal cancer. Some studies have shown an inverse association of the Mediterranean diet (MED) with adenoma, but the extent of the association is equivocal. Owing to the lack of meta-analytical evidence in the literature, we sought to assess the association between MED and CRAs by conducting a systematic review and meta-analysis. A comprehensive systematic literature search of observational studies was conducted via PubMed, Scopus, Google Scholar and Web of Sciences up to May 2023. Studies were included in our review if they evaluated the association between MED and CRA, following an observational study design. Six studies were included in this study. We found that adherence to MED was inversely associated with CRA risk (odds ratio, 0.79; confidence interval, 0.73-0.85); implying that higher adherence to MED could reduce the risk of CRA by ~21%. Stratification by the year of studies, sex, study design, country and exposure showed a significant association between MED and CRA. The results of the current study provide evidence of an inverse association between adherence to MED and CRAs.

The predictive value of the change of the number of pixels under different CT value intervals in the CT-occult central lung squamous cell carcinoma and squamous epithelial precancerous lesions

BackgroundDue to the fact that the CT-occult central lung squamous cell carcinoma and squamous epithelial precancerous lesions.(CT-occult CLSCC and SEPL) cannot be detected by lung CT screening, early and timely diagnosis of central lung cancer becomes very difficult, which directly affects the prognosis of patients.MethodsWe retrospectively review medical records of patients at the Zhejiang Cancer Hospital and enrolled 41 patients with the CT-occult CLSCC and SEPL and 48 patients without the CT-occult CLSCC and SEPL. We compare the clinical characteristics, imaging features and Changes in the number of pixels under different CT value intervals of patients with and without the CT-occult CLSCC and SEPL and we perform univariate and multivariate logistic regression analysis to explore independent factors for the CT-occult CLSCC and SEPL in the patients.ResultsWe demonstrate that pack-years ≥ 20 (OR: 3.848, 95% CI: 1.086 ~ 13.633), the number of pixels change of CT value in interval [-850 ~ -750HU] (OR: 5.302, 95% CI: 1.122 ~ 25.057) and in interval [-900 ~ -850HU] (OR: 3.478, 95% CI: 1.167 ~ 10.365) are independently associated with the CT-occult CLSCC and SEPL in the patients. Ultimately, the logistic model obtained is statistically significant (p < 0.05) and an area under the ROC curve is 0.776 (95% CI: 0.682–0.870). The sensitivity of this model is 90.2% and the specificity is 52.1%.ConclusionThe results of this study indicate that in the CT value range [-950 ~ -750HU], when the total number of lung pixels tend to increase towards the region with high CT value, the probability of the occurrence of CT-occult CLSCC and SEPL lesions also increases. Meanwhile, these results have guiding significance for the further study of radiomic.

Vulvo-vaginal epithelial tumors in mares: A preliminary investigation on epithelial-mesenchymal transition and tumor-immune microenvironment.

Vulvo-vaginal epithelial tumors are uncommon in mares, and data on the epithelial-to-mesenchymal transition (EMT) and the tumor-immune microenvironment (TIME) are still lacking. This is a study investigating the equus caballus papillomavirus type 2 (EcPV2) infection state as well as the EMT process and the tumor microenvironment in vulvo-vaginal preneoplastic/ benign (8/22) or malignant (14/22) epithelial lesions in mares. To do this, histopathological, immunohistochemical, transcriptomic, in situ hybridization, and correlation analyses were carried out. Immunohistochemistry quantification showed that cytoplasmic E-cadherin and β-catenin expression as well as nuclear β-catenin expression were features of malignant lesions, while benign/preneoplastic lesions were mainly characterized by membranous E-cadherin and β-catenin expression. Despite this, there were no differences between benign and malignant equine vulvo-vaginal lesions in the expression of downstream genes involved in the canonical and noncanonical wnt/β-catenin pathways. In addition, malignant lesions were characterized by a lower number of cells with cytoplasmic cytokeratin expression as well as a slightly higher cytoplasmic vimentin immunolabeling. The TIME of malignant lesions was characterized by more numerous CD204+ M2-polarized macrophages. Altogether, our results support the hypothesis that some actors in TIME such as CD204+ M2-polarized macrophages may favor the EMT process in equine vulvo-vaginal malignant lesions providing new insights for future investigations in the field of equine EcPV2-induced genital neoplastic lesions.

Pleomorphic Adenoma Arising From Frontozygomatic Region: An Ectopic Localization

Study Design: Case report. Objective: Pleomorphic adenoma is pathologically characterized as an epithelial lesion intermixed with mesenchymal elements. It is characterized by being a slow-growing, asymptomatic, usually nodular, firm consistency lesion that can reach large dimensions, especially when it affects the parotid gland. The present study aims to report a case about an atypical presentation of pleomorphic adenoma found in frontozygomatic region. Methods: The tumor mass was removed through resection, under general anesthesia, by cutaneous approach, preserving aesthetics and noble structures as temporalis muscle, orbicularis oculi muscle and frontal branch of the facial nerve. Intra-operative macroscopic assessment showed an encapsulated tumor. After resection, the surgical specimen was sent to the pathology laboratory for histological analysis confirming the diagnosis of Pleomorphic Adenoma. Conclusions: After 1 year of follow-up the patient had an excellent evolution, without signs of disease recurrence. It demonstrates that, until now, the surgical approach constituted the resolving therapy, even for a lesion in a rare localization.

Multiple keratoacanthoma Involving Lower Lip: Case Report and literature review

Keratoacanthoma (KA) is a benign epithelial proliferative lesion which frequently occurs on the sun exposed areas of the skin. KA originates within the pilosebaceous apparatus of the skin, may be solitary or multiple and character by spontaneous resolution. Keratoacanthoma is believed to have a good prognosis despite its clinical and histological resemblance to well differentiated squamous cell carcinoma (SCC). The aim of this paper is to briefly review and discuss the literature about multiple keratoacanthoma involving the lower lip in a 67-year-old male.&#x0D;

Assessment and safety of the new esthesiometer BRILL: Comparison with the Cochet-Bonnet Esthesiometer.

Corneal sensitivity can decrease by several ocular conditions, such as dry eye or refractive surgery, which favor ocular epithelial lesions and is measured using an esthesiometer. The study's primary objective was to demonstrate the efficacy and safety of the non-contact esthesiometer BRILL, which delivers air pulses to the corneal surface to assess corneal sensitivity. A single-center, prospective, controlled pilot study was carried out in adult patients with healthy eyes and or with pathology. Corneal sensitivity measurements were made in triplicate for both eyes at three consecutive visits. The esthesiometer BRILL was used in all visits, and on the last visit, the contact esthesiometer Cochet-Bonnet was also used. The results of both devices were compared by transforming them into force values. 54 subjects with a mean age of 50.43 (SD 16.55, interval 18-87), 77.78% women, were included. Comparing the forces applied by both esthesiometers in the healthy eyes, in the eyes with pathology in all the groups, and in the dry eyes showed significant differences, p = 0.03603, p = 0.00614, and p = 0.0001, respectively. The BRILL esthesiometer proved to be an effective and safe tool for non-contact assessment of corneal sensitivity with operator-independent repeatability. The measurements had a good agreement and comparable range with the Cochet-Bonet aesthesiometer measurements in healthy and dry eyes but with no interchangeable values. This portable device can help ophthalmologists and optometrists to diagnose eye pathologies that cause decreased corneal sensitivity and to assess the efficacy of therapy and disease progression.

Epithelial hyperplasia: A clinical mirage of a histopathological entity

Epithelial lesions that mimic infectious disease, a reactive lesion, or a neoplastic entity are frequently encountered by dentists, especially specialists in Oral Medicine and Radiology. Improper or incomplete history can complicate clinical differentials even further, leading dentists to prescribe medications that are frequently unnecessary. The histological diagnosis obtained after a biopsy is usually conclusive when representative tissue is incised and sent for diagnosis. This case report presents an intriguing case of a patient with papillary growth along the midline of the palate that was histologically diagnosed as epithelial hyperplasia, which describes the nature of the lesion but masks the clinical symptoms of the underlying inflammatory papillary hyperplasia.

Epithelial lesions (polyps) of the colon: issues of diagnosis and treatment

Epithelial lesions (polyps) of the colon: issues of diagnosis and treatment

Fallopian tube lesions as potential precursors of early ovarian cancer: a comprehensive proteomic analysis

Ovarian cancer is the leading cause of death from gynecologic cancer worldwide. High-grade serous carcinoma (HGSC) is the most common and deadliest subtype of ovarian cancer. While the origin of ovarian tumors is still debated, it has been suggested that HGSC originates from cells in the fallopian tube epithelium (FTE), specifically the epithelial cells in the region of the tubal-peritoneal junction. Three main lesions, p53 signatures, STILs, and STICs, have been defined based on the immunohistochemistry (IHC) pattern of p53 and Ki67 markers and the architectural alterations of the cells, using the Sectioning and Extensively Examining the Fimbriated End Protocol. In this study, we performed an in-depth proteomic analysis of these pre-neoplastic epithelial lesions guided by mass spectrometry imaging and IHC. We evaluated specific markers related to each preneoplastic lesion. The study identified specific lesion markers, such as CAVIN1, Emilin2, and FBLN5. We also used SpiderMass technology to perform a lipidomic analysis and identified the specific presence of specific lipids signature including dietary Fatty acids precursors in lesions. Our study provides new insights into the molecular mechanisms underlying the progression of ovarian cancer and confirms the fimbria origin of HGSC.

A Rare Otological Presentation of Squamous Papilloma

Introduction:&#x0D; Squamous papillomas (SPs) are benign epithelial neoplastic lesions commonly found in skin, oral mucosa, upper aerodigestive tract and genitals. Involvement of external auditory canal (EAC) by SP is extremely rare and whatever scarce literature is available is in the form of case reports. The exact incidence of this entity is still unknown. Consequently, its etiology, histopathological features, differential diagnoses and optimal management merit a better understanding by the Otolaryngologists.&#x0D; Case report: We present a case of EAC SP in a 15 year old girl hailing from north-eastern India who presented to us with a mass in the EAC which was acutely painful. Contrast Enhanced Computed Tomography remained the gold standard and imaging study of choice for evaluation. However, the diagnosis was clinched only by histopathology. We also discuss our strategy of management along with a brief review of literature.&#x0D; Conclusion:&#x0D; Squamous papilloma has rarely been reported to affect the EAC. Human papilloma virus remains the most consistent etiological agent. Advanced imaging like contrast enhanced high resolution computed tomogram remains gold standard to evaluate any mass seen in EAC. Complete excision with cold steel technique or coblation with good post-operative care and follow up is the standard of care.

B-257 Rapid Implementation of Monkeypox Detection in a Brazilian Diagnostic Laboratory

Abstract Background Monkeypox is a double-stranded DNA virus (approximately 197 kbp) belonging to the genus Orthopoxivirus. It is responsible for sporadic outbreaks in countries in Africa. Recently, in May 2022 a patient with a recent travel history to Nigeria tested positive for monkeypox in the UK. After that, people with symptoms (usually epithelial pustular lesions) were diagnosed with the virus in several countries, such as Portugal and the United States. In Brazil, the first case was confirmed in June 2022, the patient had traveled to Spain and Portugal. It was in this context that the Technical Operational Nucleus of our laboratory, Sabin Diagnosis and Health, located in Brasilia, capital of Brazil, validated and implemented a test to detect the genetic material of Monkeypox. Thus, in this work we present the implementation of this test. Method For the detection of Monkeypox viral DNA we chose to implement a real-time PCR (qPCR) methodology. The validated samples were swabs and wound scabs. The nucleic acid extraction chosen was using the Virus Pathogen kit from (QIAGEN), ‘midi’ protocol in the qiasymphony equipment (QIAGEN). Later we validated the extraction with the Maxwell RSC Viral Total Nucleic Acid Purification Kit extraction kit (Promega). For qPCR, we selected monkeypox-specific primers and probes, which were not able to recognize other Orthopoxiviruses (such as human pox) to ensure specificity. We used RNASEP-specific primers as an endogenous extraction control. As a positive control (PC) we used a synthetic double-stranded DNA fragment with the target sequence flanked by 10 bp. The limit of detection of the test was performed using serial dilutions of the positive control. Furthermore, given the initial absence of a positive sample for validation, we designed four pairs of primers that amplified four different regions of the viral genome for sequencing by the Sanger technique. The first positive samples were confirmed by sequencing these four regions. Results The protocol was designed in the first week after the confirmation of the first case in Brazil. The first tests with the PC showed the effectiveness of the primers. After adjusting the reaction conditions to assess the specificity of the test, we tested the protocol with samples known to be positive for other viral pathogens and obtained negative results for all of them, confirming the high specificity. After that we experimentally determined the limit of detection (25 copies per reaction). On July 8, 2022, one month after the first confirmed case in Brazil in the state of São Paulo, we released the Monkeypox detection test with the methodology described above. Since then, we have performed 193 tests, of which 59 (31%) were positive, most of them (56–95%) in men. The first 10 positive results were confirmed by genetic sequencing (Sanger). Discussion The implementation of the Monkeypox detection test by our laboratory allowed a quick response for Brazilian patients who needed the test after the virus entered the country.

Endoscopic Submucosal Dissection of a Giant Rectal Adenoma Manifesting as McKittrick-Wheelock Syndrome.

McKittrick-Wheelock syndrome (MKWS) is an uncommon clinical manifestation of large, villous, epithelial lesions of the distal colon and rectum. Excessive secretion of electrolyte-rich mucus from these lesions leads to secretory diarrhea, electrolyte disorders and acute renal failure. Several cases of MKWS have been reported since its initial description in 1954. The definitive treatment for the great majority of MKWS cases has consisted of surgical resection of the affected part of the colorectum, usually in the form of a low anterior resection or an abdominoperineal resection with the formation of an ostomy. Recent developments in endoscopic resection techniques now offer new, minimally invasive treatment alternatives for MKWS patients. We present the first reported case in the Western world of MKWS caused by a rectal adenoma with a size of 19 × 10 cm, treated through endoscopic submucosal dissection. Through the lessons learned by this case, as well as by a thorough review of the literature, we discuss this uncommon syndrome, focusing on treatment alternatives.

A case of Epstein-Barr virus-associated primary vitreoretinal lymphoma in an immunosuppressed patient.

To describe a rare case of Epstein-Barr virus (EBV)-positive primary vitreoretinal lymphoma (PVRL) in an immunosuppressed patient. Observational case report. A 64-year-old man under immunosuppressive therapy for rheumatic arthritis was referred for 2-month of blurred vision and decreased visual acuity in the right eye. Only mutton-fat keratic precipitates and mild vitreous opacity were found in the right eye without (sub-)retinal or sub-retinal pigment epithelial lesions. Vitreous biopsy and systemic workup suggested the diagnosis of PVRL of diffuse large B cell lymphoma (DLBCL) subform. Neoplastic cells stained positive for EBV antigens, EBV-encoded small RNA and Epstein-Barr nuclear antigen 2, consistent with EBV-positive DLBCL. Intravitreal methotrexate was effective in improving ocular symptoms. Our case provided evidence on the association of EBV infection with PVRL.

Non-Clinical Toxicology Evaluation of the Novel Non-ATP Competitive Oral PI3 Kinase Delta Inhibitor Roginolisib.

Roginolisib (IOA-244) is a novel, non-ATP competitive phosphoinositide-3-kinase (PI3K) delta inhibitor that regulates Akt/mTOR signaling. Roginolisib was administered once daily to rats and dogs in dose-range finding (DRF) and 4-week GLP toxicology studies. Free plasma levels of roginolisib exceeded the cellular target engagement IC90 for PI3Kδ for ≥12hours at doses of 5mg/kg, the IC90 for PI3Kβ for ≥2hours at doses ≥15mg/kg, and the IC50 for PI3Kα for ≥2hours at dose levels ≥45mg/kg. Toxicity in rats occurred at doses ≥100mg/kg. In dogs, we observed dose-dependent skin and gastrointestinal toxicity and doses ≥30mg/kg had a greater incidence of mortality. Lymphoid tissue toxicity occurred in both species. Toxicities in dogs observed at the ≥15mg/kg dose, affecting the digestive mucosa, liver, and skin, cleared after treatment cessation. Doses ≤75mg/kg were tolerated in rats and the no-observed-adverse-effect-level (NOAEL) in rats was 15mg/kg. Due to mainly epithelial lesions of the skin at 5mg/kg and necrotizing damage of the intestinal epithelia at ≥15mg/kg, no NOAEL was determined in dogs. However, the adverse effects observed in dogs at 5mg/kg were considered monitorable and reversible in patients with advanced malignancies. Furthermore, the PK profile subsequently proved to be a decisive factor for achieving selective PI3Kδ inhibition without the toxicities observed in dogs. As the result of the unique PK profile of roginolisib, patients were able to take daily roginolisib without dose modification and showed pharmacodynamic PI3Kδ inhibition over several months without gastrointestinal or dermatologic toxicities.

The plasma exosomes from patients with primary Sjögren's syndrome contain epithelial cell-derived proteins involved in ferroptosis.

Primary Sjögren's syndrome (pSS) is an autoimmune disease represented by exocrine gland epithelial cell lesions. However, the mechanism underlying these lesions remains unclear. This study analyzed the plasma exosomes of pSS patients using proteomics and revealed the presence of 24 differentially expressed proteins (DEPs) involved in the primary biological processes and signaling pathways related to ferroptosis. The DEPs enriched in the ferroptosis-related items were represented by downregulated ceruloplasmin (CP) and transferrin (TF). CC analysis of GO enrichment showed that CP and TF were localized at the apical plasma membrane, which is currently found only in epithelial cells. PPI analysis indicated that these exosomal DEPs formed a clustering network containing CP and TF. Among them, C5, C9, Haptoglobin (HP), and SERPING1 interacted directly with CP and TF. Notably, the expression of these proteins significantly decreased in both the pSS and secondary Sjögren's syndrome (sSS) plasma exosomes but not in non-autoimmune sicca syndrome (nSS). In addition, their expression levels were significantly different in the exosomes and plasma. More importantly, the plasma and salivary exosomes of pSS patients contain higher levels of exocrine gland epithelial autoantigens SSA and SSB than those of healthy controls, and epithelial cells with positive labial glands biopsy (LGB) were more susceptible to ferroptosis than those with negative LGB. The results indicated that ferroptosis may be closely related to SS epithelial cell lesions. KEY MESSAGES: • pSS plasma exosomes contain epithelial cell-derived proteins involved in ferroptosis. • Complement C5 and C9 may be new molecules involved in ferroptosis and play a crucial role in pSS epithelial cell pathology. • The serum exosomes from pSS patients, not nSS patients, contain ferroptosis-related proteins. • The changes in the ferroptosis-related protein content in the exosomes can better reflect the state of the epithelial cell lesions than those in the plasma.

Cytopathology of mesenchymal tumors of the thyroid gland: analysis of 12 cases from multinational institutions with review of the literature

Mesenchymal tumors of the thyroid gland are extremely rare. We report the cytomorphologic characteristics of 12 mesenchymal tumors occurring in the thyroid gland and highlight the diagnostic difficulties encountered in their cytologic evaluation. The cytopathology and surgical pathology archives from 5 large institutions were searched for thyroid mesenchymal tumors that had an FNA available for review. Clinicopathologic and cytomorphologic characteristics for each case were evaluated. Twelve cases of mesenchymal tumors occurring in the thyroid were identified in our search. Patient age ranged from 28 to 84 years (median, 60 years). The cases occurred in 7 women and 5 men. The tumor size ranged from 1.4 to 14 cm (median, 3.3 cm). The tumors were as follows: hemangioma (n = 4; 33.3%), angiosarcoma (n = 2; 16.7%), schwannoma (n = 2; 16.7%), solitary fibrous tumor (n = 2, 16.7%), metastatic synovial sarcoma (n = 1, 8.3%) and metastatic pleomorphic rhabdomyosarcoma (n = 1, 8.3%). The cytomorphologic features of the tumors were similar to those of their counterparts occurring in different sites. An accurate diagnosis was achieved in six primary thyroid mesenchymal cases (60%). Five patients (41.7%) underwent total thyroidectomy, and 3 patients received partial thyroidectomy (25%). Three patients (25%) did not receive a thyroidectomy and subsequent surgical information was not available in 1 case (8.3%). Mesenchymal tumors of the thyroid are extremely uncommon. Cytologic diagnosis of these tumors is often challenging due to the morphologic overlap with diverse epithelial and non-epithelial thyroid lesions. Ancillary studies such as immunohistochemistry and molecular studies are essential for accurate diagnosis.

Clinical and epidemiological features of high-risk human papillomavirus infection in patients with cervical intraepithelial lesions

ObjectiveIn this study, we analyzed the clinical and epidemiological features of high-risk human papillomavirus (HR-HPV) infection in patients with cervical intraepithelial lesions.MethodsRetrospective analysis was performed on the clinical data of 240 cases of histologically confirmed cervical squamous intraepithelial lesions to determine any correlation between HPV infection characteristics, age distribution, and cervical epithelial lesions.ResultsPatients between the ages of 31 and 40 with cervical intraepithelial lesions were more likely to have high-grade squamous intraepithelial lesions (HSIL; 40.7%) than low-grade squamous intraepithelial lesions (LSIL; 31.3%) (P < 0.05). In patients with HSIL, HR-HPV16, HR-HPV33, and HR-HPV52 were the most common types of HPV infection, while in patients with LSIL, HR-HPV16, HR-HPV52, and HR-HPV58 were the most common types of HPV infection. The highest percentage of single infections occurred in the HSIL group (69.6%), followed by the LSIL group (68.8%). HSIL was present in a significant number of patients (28.6%) aged 30 years and above who tested positive for 12 HPV types but negative for TCT.ConclusionThe prevalence of HSIL is greatest in younger patients. Patients with cervical epithelial lesions typically have a single infection of a high-risk HPV genotype—HR-HPV16, HR-HPV33, HR-HPV52, or HR-HPV58. Patients aged 30 years and above who test positive for one of 12 types of HPV but negative for TCT are at increased risk for developing HSIL. In order to detect cervical lesions early and begin treatment without delay, colposcopy should be performed regardless of whether or not a high-risk HPV infection is present.

Clinical Spectrum of Herpes Simplex Keratitis in a Tertiary Eye Hospital, Nepal

Background: Ocular manifestations of herpes simplex virus infection range from benign blepharitis, conjunctivitis, and epithelial keratitis to vision-threatening stromal keratitis and uveitis. This study aims to find out the demographic profile, clinical manifestations of herpes simplex virus keratitis and to assess associated visual impairment in Nepalese population. Method: The retrospective study was conducted from January 2020 – February 2022. The medical records were reviewed where visual acuity at presentation and at one month follow-up, clinical details on examination and, diagnosis of the stage of disease were noted. Results: Of 112 herpes simplex keratitis patients, mean age was 47.19±19.14 years. Patients of herpes simplex keratiris presented with different types of clinical manifestations namely 25 (22.31%) cases were dendritic and 13 (11.6%) geographic ulcers, 38 (33.9%) cases presented with purely stromal lesions, 19 (16.9%) cases with epithelial plus stromal lesions, 11 (9.8%) cases with stromal plus endothelial lesions and six (5.3%) cases with endothelitis. At presentation, 33 (29.4) had visual acuity of 6/6–6/18, 50 (44.6%) had 6/18–6/60, 6 (5.3%) had 6/60–3/60 and 23 (20.5%) had &lt;3/60. At one month follow up 71 (63.3%) had visual acuity of 6/6–6/18, 30 (26.7%) had 6/18–6/60, 5 (4.4%) had &lt;6/60–3/60 and 6 (5.35%) had &lt;3/60. Conclusion: Herpes simplex keratitis has diverse presentation and can cause significant vision impairment. Early clinical diagnosis and management may prevent disease progression and visual impairment.

Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience

Background. Hereditary polyposis syndromes (HPS) are a group of rare genetic diseases characterized by multiple epithelial lesions in the gastrointestinal tract (GIT) with high risk of malignancy and neoplasia development in other localizations. The case follow-up tactics in hereditary polyposes have significant differences, and differential diagnosis can be complicated due to the phenotype variability and the clinical manifestations similarity. Objective. The aim of the study is to determine the role of molecular genetic testing and endoscopic examination in the diagnosis and management of children with HPS. Materials and methods. The retrospective observational study included 17 patients with clinical signs of hereditary polyposes who applied to the L.A. Durnov Research Institute of Pediatric Oncology and Hematology during the period from 2013 to 2023. All patients underwent molecular genetic testing and comprehensive endoscopic examination of upper and lower GIT. Results. We have divided patients into 7 groups according to the results of genetic testing. Patients had various mutations in genes associated with hereditary tumor syndromes: STK11 (35.3%; n = 6), APC (17.6%; n = 3), PTEN (11.8%; n = 2), SMAD4 (5.9%; n = 1), BMPR1A (5.9%; n = 1), MUTYH (5.9%; n = 1), MLH1 (5.9%; n = 1). One female patient with colorectal cancer with history of adenomatous polyp had pathogenic variants in the ATM and CHEK2 genes; it could be considered as multi-locus tumor syndrome (MINAS) (5.9%, n = 1). Another female patient (5.9%) had multiple gastric body hamartoma polyps and multiple gastric gastrointestinal stromal tumors (GIST) but with no pathogenic mutations. Complex endoscopic examination was performed in 14 (82.3%) patients. Epithelial or non-epithelial lesions of the stomach and intestine were revealed in all cases. Malignant tumors of duodenum and colon were diagnosed in 3 out of 14 patients (21.4%). Morphological variants of these GIT lesions were represented by hamartoma, hyperplastic, and juvenile polyps, adenomas, serrated adenomas, adenocarcinoma, and GIST. The diagnosed epithelial lesions of the stomach, duodenum, and colon were removed via endoscopic polypectomy and endoscopic mucosal resection in 8 out of 14 patients (57.1%). Some cases required small bowel resection (14.3%, n = 2), total colectomy (14.3%, n = 2), and gastrectomy (14.3%, n = 2). Conclusion. Understanding the molecular and biological etiology of HPS, its endoscopic diagnosis, and treatment features allows us to optimize the management of such patients and to minimize the risks of developing malignant tumors in upper and lower GIT, as well as extraintestinal tumors by carrying out timely medical and preventive measures.

RUNX3 polymorphism present in human oral squamous cell carcinoma

Oral squamous cell carcinoma (OSCC) is characterized by high incidence, mortality, post-management recurrence and metastatic rates as well as poor prognosis. This study was designed to identify molecular diagnostic and predictive signatures of OSCC in Nigerian cases. It was a retrospective-prospective case-control study spanning a 12 year period using 74 OSCC tissue blocks as well as benign epithelial lesions which served as control from which DNA was extracted and profiled for rs7528484 and rs760805 in RUNX3 gene by restriction fragment length polymorphism-PCR. Demography of the tissue blocks was recorded. Computed data were presented as frequencies/percentages. Association between RUNX3 polymorphism and patient's gender, age, tumor location, histology was assessed by Pearson's χ2 test at α0.05, Monte-Carlo exact test and Odds Ratios (OR) at Confidence Interval (CI) of 95%. Only rs7528484 was successfully genotyped with a distribution of 52.7% homozygote normal (CC), 28.4% heterozygote mutant (CT) and 18.9% homozygote mutant (TT). Gender and histology was generally significantly associated with genotypes/alleles. Genotypes CT and TT as well as the mutant allele T, showed odds of predicting OSCC. It appears that rs7528484 in RUNX3 might be common in patients suffering from OSCC. Individuals carrying the mutant allele could also be more susceptible to OSCC development.