Prevalence of the major thyroid cancer-associated syndromes in the United States.

Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancerassociated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.

Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.

Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis.

Background: Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity. This study aimed to investigate the prevalence and impact of somatic mosaicism in these conditions.

Methods: A search was conducted using PubMed, Scopus, and Web of Sciences to identify studies evaluating mosaicism in patients with CRC or polyposis syndromes.

Negative response to immunotherapy in dMMR or MSI-H gastric cancer with APC and PTEN mutations: a case report.

Background: Microsatellite instability-high (MSI-H) or deficient mismatch repair (dMMR) represents a distinct molecular phenotype observed in malignant tumors. These tumors typically exhibit high levels of programmed cell death 1 ligand 1 (PD-L1) expression and high tumor mutational burden (TMB), resulting in an enhanced response to immune checkpoint inhibitors (ICI) therapy. The emergence of ICI has transformed the therapeutic strategy of gastric cancer (GC).

Imaging Findings and Management Strategies for Liver Masses in Children with Predisposition Disorders: A Review by the Pediatric LI-RADS Group.

Liver masses in children with underlying systemic disease or a predisposing syndrome can be benign or malignant, ranging from focal fat to hepatocellular carcinoma (HCC). Knowledge of the underlying condition, the pathophysiologic effect on the liver, and the development of liver disease and specific liver lesions allows radiologists to guide imaging with regard to modality and frequency and give recommendations for biopsy when appropriate. In some predisposition disorders, such as Beckwith Wiedemann spectrum, familial adenomatous polyposis syndrome, and tuberous sclerosis complex, established guidelines for imaging screening exist.

Endoscopic innovations in diagnosis and management of pancreatic cancer: a narrative review and future directions.

Pancreatic cancer serves as the third leading cause of cancer-associated morbidity and mortality in the United States, with a 5-year survival rate of only 12% with an expected increase in incidence and mortality in the coming years. Pancreatic ductal adenocarcinomas constitute most pancreatic malignancies. Certain genetic syndromes, including Lynch syndrome, hereditary breast and ovarian cancer syndrome, hereditary pancreatitis, familial adenomatous polyposis, Peutz-Jeghers syndrome, familial pancreatic cancer mutation, and ataxia telangiectasia, confer a significantly higher risk.

METTL3-VISTA axis-based combination immunotherapy for APC truncation colorectal cancer.

Objective: Although immune checkpoint blockade (ICB) therapy represents a bright spot in antitumor immunotherapy, its clinical benefits in colorectal cancer (CRC) are limited. Therefore, a new target for mediating CRC immunosuppression is urgently needed. Adenomatous polyposis coli (APC) mutations have been reported as early-stage characteristic events in CRC, but the role of truncated APC in the CRC immune microenvironment remains unclear and its clinical significance has yet to be explored.

The terrestrial flatworm Microplana scharffi (Geoplanidae, Microplaninae): mitochondrial genome, phylogenetic proximity to the Bipaliinae and genes related to regeneration.

A genome skimming approach of sequencing was undertaken on a subfamily of terrestrial flatworms that had been neglected in genomic studies until now, namely the Microplaninae as represented here by Microplana scharffi. A single run of short-read sequencing enabled retrieval of the complete mitogenome, the two paralogous versions of the 18S gene, the elongation factor gene EF1α, plus two genes involved in the regeneration process, namely those coding for ß-CATENIN-1 and adenomatous polyposis coli (APC). The 15,297 bp mitogenome lacks a functional tRNA-Ala and has a mandatory alternative TTG start codon in its cox1 gene.

APC orchestrates microtubule dynamics by acting as a positive regulator of KIF2A and a negative regulator of CLASPs.

Tumor suppressor protein Adenomatous polyposis coli protein (APC) is an EB-binding and microtubule (MT) plus end-tracking protein; however, how exactly APC regulates MT dynamics remains elusive. Here, we show that in LLC-PK1 cells, APC and KIF2A, an MT depolymerase, form a complex clustering at the cell edge and destabilize MTs at the MT plus ends. Further biochemical characterization and mutational analysis reveal key residues for the APC-KIF2A interaction.

Chlorhexidine Dihydrochloride Shows Anti-tumor Effects in Desmoid Tumors and Colorectal Cancer.

Background/aim: Desmoid tumors (DTs), or aggressive fibromatosis, are rare neoplasms arising from connective tissue, frequently exhibiting local invasiveness. The limited treatment options and high recurrence rates of DTs highlight the need for novel therapeutic strategies. This study investigated the efficacy of chlorhexidine dihydrochloride (CD) in inhibiting the growth of DTs and colorectal cancer (CRC).

Anti-tumor Effects of Idarubicin Hydrochloride in Desmoid Tumors.

Background/aim: Desmoid tumors (DTs), also referred to as aggressive fibromatosis, originate from connective tissues and typically manifest with a propensity for local invasion. Despite extensive research efforts aimed at exploring novel anti-tumor agents for DTs, the development of effective clinical management strategies remains an ongoing challenge due to the limited success of current treatments, which frequently lead to inconsistent outcomes and a high recurrence rate of DTs. To overcome these limitations, we focused our research aim on a drug repositioning approach to identify existing medications that could be effective against DTs.

TPM4 overexpression drives colon epithelial cell tumorigenesis by suppressing differentiation and promoting proliferation.

Objective: The high morbidity and mortality associated with colorectal cancer (CRC) and the recent increases in early-onset CRC obviate the need for novel methods to detect and treat this disease, particularly at early stages. We hypothesize that aberrant expression of genes involved in the crypt-luminal migration of colon epithelial cells, a process necessary for their growth arrest and maturation, may disrupt differentiation and transition cells from a normal to tumorigenic state.

Methods: We searched for contractility- and motility-related genes that are dysregulated in human CRC relative to normal colon.

Single-cell spatial mapping reveals alteration of cell type composition and tissue microenvironment during early colorectal cancer formation.

Colorectal cancer (CRC) is the third leading cause of cancer mortality in the United States. Familial adenomatous polyposis (FAP) is a hereditary syndrome that raises the risk of developing CRC, with total colectomy as the only effective prevention. Even though FAP is rare (0.

Kallikrein-Related Peptidase 6 Contributes to Murine Intestinal Tumorigenesis Driven by a Mutant Gene.

Background/objectives: The objective of this study was to assess the role of a secreted serine protease, kallikrein-related peptidase 6 (KLK6), during colorectal tumorigenesis driven by a mutant tumor suppressor gene. A first analysis of KLK6 expression in the intestinal tract of -mutant multiple intestinal neoplasia () mice revealed up to four-fold induction of mRNA levels in adenomas relative to its level in the adjacent mucosa.

Methods And Results: The presence of KLK6 protein in the adenomatous areas was confirmed by immunohistochemistry and optical coherence tomography/laser-induced fluorescence (OCT/LIF) imaging.

Adrenocortical tumors and hereditary syndromes.

Introduction: Adrenocortical tumors (ACTs) are frequently encountered in clinical practice. They vary in clinical and biological characteristics from nonfunctional to life threatening hormone excess, from benign to highly aggressive malignant tumors. Most ACTs appear to be benign and nonfunctioning.

Adenomatous Polyposis Coli (APC) Promoter Gene Methylation in Urine-Derived DNA: A Non-invasive Biomarker for Early Bladder Cancer Detection and Tumor Aggressiveness.

Background Bladder urothelial carcinoma (BLCA) is a major cause of morbidity and mortality worldwide, largely due to the high frequency of disease relapse and the lack of efficient endoscopic diagnostic methods. This study aimed to address this clinical gap by evaluating the potential of using adenomatous polyposis coli (APC) gene promoter methylation as a biomarker detectable in urine DNA of individuals with BLCA. Methods Methylation-specific PCR was used to determine the methylation status of the APC promoter gene in 50 bladder carcinoma patients and 50 apparently healthy individuals.