Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11.

Unlabelled: Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in (), which encodes serine/threonine kinase 11, have been identified as the major cause of Peutz–Jeghers syndrome. Here, we detected a rare variant of undetermined significance in intron 2 of using multi-gene panel analysis in a girl with clinically suspected Peutz–Jeghers syndrome.

Genomic Profiles of Pathogenic and Moderate-Penetrance Germline Variants Associated With Risk of Early-Onset Lung Adenocarcinoma.

Introduction: Up to 54% of all lung adenocarcinoma (LADC) cases in Asian populations occur in never-smoking women, suggesting that the impact of smoking and other environmental factors on the risk of early-onset LADC is minimal. Genetic factors may play a crucial role in disease development.

Methods: The prevalence of germline pathogenic variants (GPVs) of 454 hereditary cancer and DNA repair genes was evaluated by whole-exome and whole-genome sequencing of 348 early-onset LADC (aged ≤ 40 y) and 1425 later-onset LADC (aged ≥ 41 y) cases.

Metachronous Occurrence of Mucosa-associated Lymphoid Tissue (MALT) Lymphoma in the Esophagus and Tonsillar Diffuse Large B-cell Lymphoma 18 Years After Helicobacter pylori Eradication for Gastric MALT Lymphoma: A Case Report.

A 51-year-old man was diagnosed with gastric mucosa-associated lymphoid tissue (MALT) lymphoma after presenting with fold convergence on upper gastrointestinal radiography and nausea. He tested positive for Helicobacter pylori, and eradication therapy decreased the size of the gastric MALT lymphoma. Eighteen years later, whitish subepithelial lesions were discovered in the middle thoracic esophagus which were diagnosed to be esophageal MALT lymphoma.

Identification of barriers to implementation of precision oncology in patients with rare cancers.

Established treatment options for rare cancers are limited by the small number of patients. The current comprehensive genomic profiling (CGP) testing might not fully exploit opportunities for precision oncology in patients with rare cancers. Therefore, we aimed to explore the factors associated with CGP testing utility in rare cancers and identify barriers to implementing precision oncology.

Long-term outcomes after non-curative endoscopic resection for esophageal squamous cell carcinoma followed by additional chemoradiotherapy.

Endoscopic resection (ER) of esophageal squamous cell carcinoma (ESCC) is evaluated pathologically, and additional treatment is recommended for cases resulting in non-curative resection, defined as pMM with lymphovascular invasion (LVI), pSM, or positive vertical margin. This study aimed to assess long-term outcomes and risk factors for recurrence in patients with ESCC treated with non-curative ER followed by additional chemoradiotherapy (CRT). We retrospectively reviewed the clinical courses of patients who underwent non-curative ER followed by additional CRT for ESCCs between August 2007 and December 2017.

Update on Epidemiology, Diagnosis, and Biomarkers in Gastroenteropancreatic Neuroendocrine Neoplasms.

Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are a heterogeneous group of malignancies that originate from the diffuse neuroendocrine cell system of the pancreas and gastrointestinal tract and have increasingly increased in number over the decades. GEP-NENs are roughly classified into well-differentiated neuroendocrine tumors and poorly differentiated neuroendocrine carcinomas; it is essential to understand the pathological classification according to the mitotic count and Ki67 proliferation index. In addition, with the advent of molecular-targeted drugs and somatostatin analogs and advances in endoscopic and surgical treatments, the multidisciplinary treatment of GEP-NENs has made great progress.

Activating KRAS and GNAS mutations in heterotopic submucosal glands of the stomach.

Background: The heterotopic submucosal gland (HSG) is a common incidental finding in gastrectomy specimens. The majority of HSGs are small incidental lesions, which are also known as gastritis cystica profunda. However, larger lesions may appear as an inverted growth of well-organized mucosa referred to as gastric inverted polyps.

Comparison of postpolypectomy bleeding events between cold snare polypectomy and hot snare polypectomy for small colorectal lesions: a large-scale propensity score-matched analysis.

Background And Aims: Cold snare polypectomy (CSP), a safe procedure for removing colon polyps, has a low prevalence of postpolypectomy bleeding (PPB). Previous studies have failed to demonstrate differences in PPB rates between CSP and hot snare polypectomy (HSP), possibly because of their small sample sizes. This study analyzed PPB rates after CSP and HSP.

Clinical Applications of Linked Color Imaging and Blue Laser/Light Imaging in the Screening, Diagnosis, and Treatment of Superficial Colorectal Tumors.

Considering its contribution to reducing colorectal cancer morbidity and mortality, the most important task of colonoscopy is to find all existing polyps. Moreover, the accurate detection of existing polyps determines the risk of colorectal cancer morbidity and is an important factor in deciding the appropriate surveillance program for patients. Image-enhanced endoscopy is an easy-to-use modality with improved lesion detection.

Endoscopic features of isolated and traditional serrated adenoma-associated superficially serrated adenomas of the colorectum.

Background And Aim: Superficially serrated adenoma (SuSA) is a recently proposed subtype of colorectal serrated lesions. It is characterized by distinct clinicopathological and molecular features, including mixed serrated and adenomatous histology and frequent genetic alterations involving KRAS and RSPO. This study aimed to characterize the endoscopic features of isolated and traditional serrated adenoma (TSA)-associated SuSAs.

Vonoprazan-based triple therapy is effective for Helicobacter pylori eradication irrespective of clarithromycin susceptibility.

Background: Helicobacter pylori causes peptic ulcers and accounts for over 90% of gastric cancers; however, eradication rates have been declining due to antimicrobial resistance. Vonoprazan (VPZ), a potassium-competitive acid blocker, produces rapid and profound gastric acid suppression and has shown promising effects in the improvement of H. pylori eradication rates.

Gastric cancer is highly prevalent in Lynch syndrome patients with atrophic gastritis.

Background: Although gastric cancer is one of the Lynch syndrome (LS)-related tumors, the clinicopathological features of gastric cancer in patients with LS remain uncertain. To investigate the incidence risk and clinicopathological features of gastric neoplasms in LS, we conducted a retrospective cohort study in Japanese LS patients.

Methods: LS patients with pathogenic mismatch repair (MMR) gene variants were extracted from the LS registry of the National Cancer Center Hospital, Japan.

Association between dietary sugar intake and colorectal adenoma among cancer screening examinees in Japan.

Although intake of highly sugary foods is considered to be a potential risk factor for colorectal cancer through hyperinsulinemia, the association of sugar intake and colorectal adenoma, a precursor lesion to most colorectal cancer, is poorly understood, particularly in Asian populations. We undertook a cross-sectional study in a Japanese population to investigate the association between dietary sugar intake and the prevalence of colorectal adenoma. Study subjects were selected from participants who underwent magnifying colonoscopy with dye spraying as part of a cancer screening program and who responded to a self-administered questionnaire before the colonoscopy.

Comparison Between Linked Color Imaging and Blue Laser Imaging for Improving the Visibility of Flat Colorectal Polyps: A Multicenter Pilot Study.

Introduction: Linked color imaging (LCI) and blue laser imaging-bright (BLI-b) improve the visibility of gastrointestinal lesions. In this multicenter study, we compared the effects of LCI and BLI-b on the visibility of flat polyps with visibility scores and color difference (CD) values, including fast-withdrawal and large-monitor observation.

Methods: We recorded 120 videos of 40 consecutive flat polyps (2-20 mm), adenoma, and sessile serrated adenoma and polyp (SSA/P), using white light imaging (WLI), BLI-b, and LCI from July 2017 to December 2017.

Additional value of linked color imaging in colonoscopy: a retrospective study.

Linked color imaging (LCI), a newly developed optical modality, enhances mucosal surface contrast. We aimed to evaluate the efficacy and feasibility of insertion-phase LCI in terms of additional benefit of colorectal polyp detection over that obtained with white light imaging (WLI). We consecutively enrolled eligible patients from November 2017 to June 2018.

Clinical significance of colorectal polyp detection on colonoscopy insertion.

Background: Colorectal lesions are generally evaluated during the withdrawal phase of colonoscopy. Minimising the risk of missed lesions is crucial to determine an appropriate future surveillance colonoscopy interval.

Objective: This study aimed to evaluate the clinical significance of detecting sigmoid colon lesions during the insertion phase.

Reappraisal of the genetic heterogeneity of sessile serrated adenoma/polyp.

Aims: Sessile serrated adenoma/polyp (SSA/P) is regarded as a genetically homogeneous entity, with most lesions harbouring the BRAF V600E mutation. The present study aimed to reappraise the genetic heterogeneity of SSA/Ps and its clinicopathological significance.

Methods And Results: We performed next-generation sequencing of 272 SSA/Ps without dysplasia and evaluated morphological and molecular features associated with the respective genotypes.

Recurrence and prognosis of patients emergently hospitalized for acute esophageal variceal bleeding: A long-term cohort study.

Aim: To elucidate the rates of recurrence and mortality in acute esophageal variceal bleeding and the associated risk factors.

Methods: A cohort of 174 patients emergently hospitalized for esophageal variceal bleeding was analyzed. All patients underwent endoscopic variceal ligation within 3 h of arrival.