Gastrointestinal polyposis syndromes are primarily characterized by multiple polyps in the gastrointestinal tract, with their pathogenic mechanisms largely related to genetic factors and involving multiple signaling pathways. Adenomatous polyposis syndromes are mainly associated with APC gene variants, while some cases may arise from MUTYH gene variants. Peutz-Jeghers syndrome is primarily linked to STK11 gene variants. Juvenile polyposis syndrome is mainly associated with variants in the SMAD4 and BMPR1A genes. PTEN hamartoma tumor syndrome is predominantly caused by PTEN gene variants. Hereditary mixed polyposis syndrome is primarily related to variants of the GREM1 and BMPR1A genes. This article systematically summarizes the advances in genetic research on Gastrointestinal polyposis syndromes to enhance clinicians' understanding of these diseases and improve their diagnostic and therapeutic approaches.
Humans ; Adenomatous Polyposis Coli/genetics* ; Smad4 Protein/genetics* ; Peutz-Jeghers Syndrome/genetics* ; PTEN Phosphohydrolase/genetics* ; Bone Morphogenetic Protein Receptors, Type I/genetics* ; Intestinal Polyposis/congenital* ; Intercellular Signaling Peptides and Proteins/genetics* ; Adenomatous Polyposis Coli Protein/genetics* ; Protein Serine-Threonine Kinases/genetics* ; AMP-Activated Protein Kinase Kinases ; Neoplastic Syndromes, Hereditary

Sigmoid colon schwannoma is a rare benign gastrointestinal tumor that is challenging to be diagnosed preoperatively.This paper reported a case of sigmoid colon schwannoma that was preoperatively misdiagnosed as a gastrointestinal stromal tumor on ultrasonography.Intraoperative frozen section analysis identified it as a spindle cell tumor,with definitive diagnosis confirmed as gastrointestinal schwannoma via immunohistochemistry.This paper summarizes the similarities and differentiating features of intestinal stromal tumors and schwannomas on ultrasonographic imaging.By analyzing and discussing previous literature,we aim to enhance the diagnostic and differential diagnostic capabilities of ultrasonographers in preoperative evaluation of intestinal schwannomas,thereby providing reliable evidence for clinicians in the diagnosis and management of this condition.
Humans ; Neurilemmoma/diagnostic imaging* ; Ultrasonography ; Sigmoid Neoplasms/diagnostic imaging* ; Male ; Colon, Sigmoid/diagnostic imaging* ; Middle Aged ; Female ; Diagnosis, Differential

Objective To explore the prognostic value of glycolysis-related genes in colorectal cancer (CRC) patients and formulate a novel glycolysis-related prognostic risk model. Methods Single-cell and bulk transcriptomic data of CRC patients, along with clinical information, were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. Glycolysis scores for each sample were calculated using single-sample Gene Set Enrichment Analysis (ssGSEA). Kaplan-Meier survival curves were generated to analyze the relationship between glycolysis scores and overall survival. Novel glycolysis-related subgroups were defined among the cell type with the highest glycolysis scores. Gene enrichment analysis, metabolic activity assessment, and univariate Cox regression were performed to explore the biological functions and prognostic impact of these subgroups. A prognostic risk model was built and validated based on genes significantly affecting the prognosis. Gene Set Enrichment Analysis (GSEA) was conducted to explore differences in biological processes between high- and low-risk groups. Differences in immune microenvironment and drug sensitivity between these groups were assessed using R packages. Potential targeted agents for prognostic risk genes were predicted using the Enrichr database. Results Tumor tissues showed significantly higher glycolysis scores than normal tissues, which was associated with a poor prognosis in CRC patients. The highest glycolysis score was observed in epithelial cells, within which we defined eight novel glycolysis-related cell subpopulations. Specifically, the P4HA1⁺ epithelial cell subpopulation was associated with a poor prognosis. Based on signature genes of this subpopulation, a six-gene prognostic risk model was formulated. GSEA revealed significant biological differences between high- and low-risk groups. Immune microenvironment analysis demonstrated that the high-risk group had increased infiltration of macrophages and tumor-associated fibroblasts, along with evident immune exclusion and suppression, while the low-risk group exhibited higher levels of B cell and T cell infiltration. Drug sensitivity analysis indicated that high-risk patients were more sensitive to Abiraterone, while low-risk patients responded to Cisplatin. Additionally, Valproic acid was predicted as a potential targeted agent. Conclusion High glycolytic activity is associated with a poor prognosis in CRC patients. The novel glycolysis-related prognostic risk model formulated in this study offers significant potential for enhancing the diagnosis and treatment of CRC.
Humans ; Colorectal Neoplasms/pathology* ; Glycolysis/genetics* ; Prognosis ; Transcriptome ; Tumor Microenvironment/genetics* ; Gene Expression Profiling ; Single-Cell Analysis ; Gene Expression Regulation, Neoplastic ; Male ; Female ; Kaplan-Meier Estimate

Colorectal cancer (CRC) is one of the most common malignant tumors in China, ranking second in morbidity and fourth in mortality. Metastasis and recurrence are the leading causes of patient death, and the peritoneum is a frequent site of metastasis in CRC, second only to liver and lung metastases. However, the prognosis of peritoneal metastasis is much worse than hepatic and pulmonary metastasis. CRC peritoneal metastasis is challenging early diagnosis, presents with severe symptoms, and has a poor prognosis. It is crucial to emphasize standardized diagnosis and treatment for CRC peritoneal metastasis to improve patients' outcome and enhance their quality of life. This consensus, based on evidence-based medical evidence, revised the "Chinese Expert Consensus on the Diagnosis and Treatment of Colorectal Cancer Peritoneal Metastasis (2022 edition)" and reached a preliminary consensus on the definition, diagnosis, treatment, and prevention of CRC peritoneal metastasis, with the aim of guiding and standardizing the diagnosis and treatment of CRC peritoneal metastasis, developing reasonable and effective comprehensive treatment plans, prolonging survival time and improving quality of life for CRC peritoneal metastasis patients, thereby raising the overall level of diagnosis and treatment for CRC in China.
Humans ; Peritoneal Neoplasms/therapy* ; Colorectal Neoplasms/diagnosis* ; Consensus ; Quality of Life ; Prognosis ; China

Permanent stoma is an important method often selected in the surgical treatment of colorectal cancer, mainly including but not limited to the sigmoid colon single-lumen stoma after abdominoperineal resection. Since the stoma needs to be retained permanently, preoperative intervention for the stoma, the stoma surgical procedure, prevention and treatment of complications, and long-term postoperative follow-up are all closely related to the patient's quality of life. Under the guidance of the Colorectal Surgery Group of the Society of Surgery, Chinese Medical Association, the Colorectal Tumor Professional Committee of the Chinese Medical Doctor Association, and the Anorectal Physicians Branch of the Chinese Medical Doctor Association, led by the Stoma Study Group of the Anorectal Physicians Branch of the Chinese Medical Doctor Association and with the academic support of Chinese Journal of Gastrointestinal Surgery, experts in related fields were gathered. By drawing on the latest domestic and international guidelines and relevant literature, combining clinical practice and expert opinions, and through repeated discussions and revisions, 24 recommendations were put forward for preoperative evaluation and preparation, surgical technical operation specifications, postoperative management, complication prevention and treatment, and long-term follow-up. The aim is to provide guidance for the clinical practice of permanent stoma in colorectal cancer surgery in China.
Humans ; Colorectal Neoplasms/surgery* ; Consensus ; Ostomy/methods* ; Quality of Life ; Surgical Stomas ; China ; Colostomy

Enterostomy is an important means of treating colorectal cancer disease, and the nutritional problems of colorectal cancer patients with enterostomy are getting more and more attention. Malnutrition not only prolongs the hospitalization time of the patients and increases their economic burden, but also increases the incidence of patients' complications and death rate. At present, the nutritional management of colorectal cancer patients with enterostomy in China has not yet formed a consensus. Launched by the Chinese Society for Oncological Nutrition, experts with relevant backgrounds from multiple disciplines in China were invited, based on relevant references, the latest evidence and experts' clinical experience, and after several rounds of expert correspondence and expert demonstration meetings, to write the expert consensus on the whole-course nutritional management of colorectal cancer patients with enterostomy. The expert consensus centers on the teamwork model for the whole-course management of colorectal cancer patients with enterostomy, nutritional tertiary diagnosis, principles of nutritional therapy, perioperative nutritional management, nutritional management of intestinal stoma complications, and post-discharge nutritional management, aiming to provide standardized guidance for the whole-course nutritional management of patients with intestinal stoma.
Humans ; Colorectal Neoplasms/therapy* ; Consensus ; Enterostomy ; Nutritional Support ; Malnutrition ; Nutrition Therapy

The liver is the main target organ for hematogenous metastases from colorectal cancer, and colorectal liver metastasis is one of the most difficult and challenging situations in the treatment. In order to improve the diagnosis and comprehensive treatment in China, the Guidelines have been edited and revised for seven times since 2008, including the overall evaluation, personalized treatment goals and comprehensive treatments, to prevent the occurrence of liver metastases, increase the local damage rate of liver metastases, prolong long-term survival, and improve quality of life. The revised Guideline version 2025 includes the diagnosis and follow-up, prevention, multidisciplinary team (MDT), surgery and local ablative treatment, neoadjuvant and adjuvant therapy, comprehensive treatment. The revised Guideline emphasizes precision treatment based on genetic molecular typing, especially recommending immune checkpoint inhibitors for dMMR/MSI-H patients, and enriched local treatment methods, such as liver transplantation, yttrium-90 microsphere selective internal radiotherapy, etc. The revised Guideline includes state-of-the-art experience and findings, detailed content, and strong operability.
Humans ; Liver Neoplasms/diagnosis* ; Colorectal Neoplasms/therapy* ; Liver Transplantation ; Practice Guidelines as Topic

Nowadays, robotic surgery is an important trend in the surgical treatment for colorectal cancer. Based on the previous version, the Robotic Surgery Group, Colorectal Cancer Committee of Chinese Medical Doctor Association convened the national experts to discuss and reach a consensus on the application standards for robotic colorectal cancer surgery, hoping to promote the application and promotion of robotic surgery.
Humans ; Robotic Surgical Procedures/methods* ; Colorectal Neoplasms/surgery* ; Consensus

OBJECTIVE: To explore the potential apoptotic mechanisms of 3 Morchella extracts (Morchella conica, Morchella esculenta and Morchella delicosa) on breast and colon cancer cell lines using apoptotic biomarkers. METHODS: Human breast cell line (MCF-7) and colon cancer cell line (SW-480) were treated with methanol and ethanol extracts of 3 Morchella species with concentration ranging from 0.0625 to 2 mg/mL. After that their effects on gene expression of apoptosis related markers (pro-apoptotic markers including Bax, caspase-3, caspase-7, and caspase-9, and the antiapoptotic marker including Bcl-2) were determined using reverse transcription polymerase chain reaction. RESULTS: All Morchella extracts reduced breast and colon cancer cells proliferation at half inhibitory concentration (IC₅₀) of 0.02 ±0.01 to 0.68 ±0.30 mg/mL. As expected, all Morchella extracts significantly increased gene expressions of Bax, caspase-3, caspase-7, and caspase-9 and downregulated the gene expression of Bcl-2 in MCF-7 and SW-480 cell lines (P<0.05). CONCLUSIONS Morchella extracts demonstrated significant anti-proliferative activity against breast and colon cancer cell lines via an apoptosis induction mechanism. Anticancer activity of Morchella extracts and activation of apoptosis in breast and colon cancer cells suggest that it may be used to develop chemotherapeutic agents against cancer in future.
Humans ; Apoptosis/genetics* ; Colonic Neoplasms/drug therapy* ; Breast Neoplasms/drug therapy* ; Cell Line, Tumor ; Cell Proliferation/drug effects* ; Plant Extracts/pharmacology* ; Gene Expression Regulation, Neoplastic/drug effects* ; MCF-7 Cells ; Ascomycota/chemistry*

OBJECTIVE: To explore the role of the natural compound hesperidin in glycolysis, the key ratelimiting enzyme, in colorectal cancer (CRC) cell lines. METHODS: In vitro, HCT116 and SW620 were treated with different doses of hesperidin (0-500 µmol/L), cell counting kit-8 and colone formation assays were utilized to detected inhibition effect of hesperidin on CRC cell lines. Transwell and wound healing assays were performed to detect the ability of hesperidin (0, 25, 50 and 75 µmol/L) to migrate CRC cells. To confirm the apoptotic-inducing effect of hesperidin, apoptosis and cycle assays were employed. Western blot, glucose uptake, and lactate production determination measurements were applied to determine inhibitory effects of hesperidin (0, 25 and 50 µmol/L) on glycolysis. In vivo, according to the random number table method, nude mice with successful tumor loading were randomly divided into vehicle, low-dose hesperidin (20 mg/kg) and high-dose hesperidin (60 mg/kg) groups, with 6 mice in each group. The body weights and tumor volumes of mice were recorded during 4-week treatment. The expression of key glycolysis rate-limiting enzymes was determined using Western blot, and glucose uptake and lactate production were assessed. Finally, protein interactions were probed with DirectDIA Quantitative Proteomics, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses. RESULTS: Hesperidin could inhibit CRC cell line growth (P<0.05 or P<0.01). Moreover, hesperidin presented an inhibitory effect on the migrating abilities of CRC cells. Hesperidin also promoted apoptosis and cell cycle alterations (P<0.05). The immunoblotting results manifested that hesperidin decreased the levels of hexokinase 2, glucose transporter protein 1 (GLUT1), GLUT3, L-lactate dehydrogenase A, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), PFKFB3, and pyruvate kinase isozymes M2 (P<0.01). It remarkably suppressed tumor xenograft growth in nude mice. GO and KEGG analyses showed that hesperidin treatment altered metabolic function. CONCLUSION Hesperidin inhibits glycolysis and is a potential therapeutic choice for CRC treatment.
Hesperidin/therapeutic use* ; Colorectal Neoplasms/metabolism* ; Glycolysis/drug effects* ; Animals ; Humans ; Apoptosis/drug effects* ; Mice, Nude ; Cell Movement/drug effects* ; Cell Line, Tumor ; Cell Proliferation/drug effects* ; Glucose/metabolism* ; Cell Cycle/drug effects* ; Mice, Inbred BALB C ; Mice ; HCT116 Cells ; Lactic Acid