Search Results (40)

Background: Young-onset colorectal cancer (YO-CRC) has emerged as a distinct clinical entity, often presenting at advanced stages. Despite the increasing incidence, the molecular and clinical underpinnings of YO-CRC remain underexplored. This study aims to characterize the clinical and molecular features of YO-CRC and to evaluate their impact on OS. Methods: We reviewed 110 patients diagnosed with YO-CRC at our institution who underwent next-generation sequencing. Demographic, clinical, and molecular data, including age, gender, race, tumor location, cancer stage, and mutation status (KRAS, NRAS, BRAF, POLE, ERBB-2/HER2, microsatellite status), were collected by reviewing electronic medical records. For OS analysis, we focused on patients diagnosed with de novo stage IV. Cox proportional hazards regression and Kaplan–Meier survival analysis were utilized to assess the association of these factors with OS, with statistical significance determined by a p-value threshold of <0.05. Results: Among 110 patients, n = 44 (40%) presented with local disease (stage 1–3), while n = 66 (60%) presented with de novo metastatic disease at the time of diagnosis. The median age at diagnosis was 44.5 years. The cohort consisted of 64% males and 36% females, with 84% of patients identified as White. Most tumors were left-sided (77%), including the distal colon/sigmoid (44%) and rectum (33%). KRAS and BRAF mutations were present in 36% and 5.5%, respectively. ERBB-2/HER2 amplification and microsatellite instability were observed in 4.5% and 6.4%, respectively. Tumor mutation burden (TMB) was <10 in 57% of patients, with 14% having TMB > 20. CNV analysis revealed that 14% of patients had copy gains, 12% had concurrent gains/losses, and 31% had copy losses. Among 66 patients with de novo metastatic disease, 44% had died by the time of analysis, with a median overall survival (OS) of 43.6 months (95% CI, 28.7—not reached). KRAS mutations were found to be significantly associated with worse survival outcomes. Cox regression analysis reveals the prognostic significance of KRAS status, with a hazard ratio (HR) of 3.52 (95% CI: 1.59–7.76, p = 0.002), indicating a significantly higher risk of death for KRAS-mutant YO-CRC patients. Conclusions: Patients with YO-CRC are more likely to present with de novo metastatic disease and left-sided tumors with distinct molecular characteristics. KRAS mutations are a key prognostic factor in YO-CRC, highlighting the need for therapeutic interventions to improve outcomes in this high-risk group. Full article

Background and Objective: Colorectal cancer (CRC) most commonly metastasizes to the liver and lungs; however, synchronous metastases to pelvic structures such as the vagina and urethra are extremely rare, posing a significant diagnostic and therapeutic challenge. This report describes an unusual case of sigmoid colon adenocarcinoma with synchronous metastases to the vagina and urethra, highlighting its diagnostic evaluation and the value of a multidisciplinary approach. Methods: A 59-year-old woman with a history of deep vein thrombosis treated with apixaban presented with chronic constipation and pelvic bleeding. A gynecological evaluation revealed a vaginal lesion. A colonoscopy, biopsy, pelvic magnetic resonance imaging, and molecular profiling were performed. Treatment included chemotherapy (capecitabine and oxaliplatin), panitumumab, and pelvic radiotherapy. Results: The biopsy confirmed a moderately differentiated invasive adenocarcinoma in the sigmoid colon with synchronous metastases to the vagina and urethra. Molecular profiling identified a rat sarcoma virus oncogene and BRAF (B-Raf proto-oncogene), allowing for the use of targeted therapy. The patient achieved a complete response according to RECIST 1.1 criteria and significant symptomatic improvement, including pain reduction, although dosages were adjusted for thrombocytopenia. She is currently continuing palliative treatment with good tolerance and durable symptomatic improvement. Conclusions: This case underscores the need to consider unusual metastatic sites in patients with colorectal cancer presenting with gynecological symptoms. Early diagnosis, based on imaging and histology, alongside molecular characterization, is crucial for effective personalized therapy. Multidisciplinary coordination is key to optimizing clinical outcomes in these rare metastatic presentations. Full article

Backgroud. Endometriosis is a chronic, estrogen-dependent inflammatory disease characterized by the ectopic presence of endometrial-like tissue. Although genome-wide association studies (GWAS) have identified susceptibility variants, their tissue-specific regulatory impact remains poorly understood. Objective. To functionally characterize endometriosis-associated variants by exploring their regulatory effects as expression quantitative trait loci (eQTLs) across six physiologically relevant tissues: peripheral blood, sigmoid colon, ileum, ovary, uterus, and vagina. Methods. GWAS-identified variants were cross-referenced with tissue-specific eQTL data from the GTEx v8 database. We prioritized genes either frequently regulated by eQTLs or showing the strongest regulatory effects (based on slope values, which indicate the direction and magnitude of the effect on gene expression). Functional interpretation was performed using MSigDB Hallmark gene sets and Cancer Hallmarks gene collections. Results. A tissue specificity was observed in the regulatory profiles of eQTL-associated genes. In the colon, ileum, and peripheral blood, immune and epithelial signaling genes predominated. In contrast, reproductive tissues showed the enrichment of genes involved in hormonal response, tissue remodeling, and adhesion. Key regulators such as MICB, CLDN23, and GATA4 were consistently linked to hallmark pathways, including immune evasion, angiogenesis, and proliferative signaling. Notably, a substantial subset of regulated genes was not associated with any known pathway, indicating potential novel regulatory mechanisms. Conclusions. This integrative approach highlights the com-plexity of tissue-specific gene regulation mediated by endometriosis-associated variants. Our findings provide a functional framework to prioritize candidate genes and support new mechanistic hypotheses for the molecular pathophysiology of endometriosis. Full article

Background/Objectives: The metastatic patterns of apical lymph node (ALN) in rectal and sigmoid colon cancer are currently unclear, and there is no consensus on the indications for dissection of ALN. This study aimed to analyze the impact of ALN metastasis on prognosis, determine the metastatic patterns of ALN and provide evidence for indications of ALN dissection in rectal and sigmoid colon cancer. Methods: In this multicenter, retrospective cohort study, patients from five centers with stage I-III rectal or sigmoid colon cancer who underwent laparoscopic radical surgery with ALN dissection without neoadjuvant treatment from January 2015 to December 2019 were enrolled. Results: Among 2809 patients, the positive rate of ALN was 1.9%. The 5-year overall survival and cancer-specific survival rate for patients with metastatic ALN were 37.5% and 41.0%, respectively. ALN metastasis was the independent risk factor for poor prognosis. Tumor size ≥5 cm (OR = 2.32, 95% CI: 1.30–4.13, p = 0.004), signet ring cell cancer/mucinous adenocarcinoma (vs. poor differentiated adenocarcinoma, OR = 0.19, 95% CI: 0.08–0.45, p < 0.001; vs. moderate to well differentiated adenocarcinoma, OR = 0.22, 95% CI: 0.11–0.42, p < 0.001), T4 stage (OR = 1.93, 95% CI: 1.05–3.55, p = 0.034), N2 stage (OR = 8.86, 95% CI: 4.45–17.65, p < 0.001) and radiologic evidence of extramural venous invasion (OR = 1.88, 95% CI: 1.03–3.42, p = 0.040) were independent risk factors for ALN metastasis. The nomogram model developed by these factors achieved a good predictive performance. Conclusions: This research offered insights into the incidence, risk factors, and prognostic significance of apical lymph node metastasis in cases of rectal and sigmoid colon cancer. Additionally, the study furnished empirical support for the criteria guiding ALN dissection. Furthermore, a pragmatic risk assessment model was developed to predict ALN metastasis. Full article

Background: Radiotherapy (RT) is a mainstay treatment for prostate cancer (PC). Accurate delineation of organs at risk (OARs) is crucial for optimizing the therapeutic window by minimizing side effects. Manual segmentation is time-consuming and prone to inter-operator variability. This study investigates the performance of Limbus^® Contour^® (LC), a deep learning-based auto-contouring software, in delineating pelvic structures in PC patients. Methods: We evaluated LC’s performance on key structures (bowel bag, bladder, rectum, sigmoid colon, and pelvic lymph nodes) in 52 patients. We compared auto-contoured structures with those manually delineated by radiation oncologists using different metrics. Results: LC achieved good agreement for the bladder (median Dice: 0.95) and rectum (median Dice: 0.83). However, limitations were observed for the bowel bag (median Dice: 0.64) and sigmoid colon (median Dice: 0.6), with inclusion of irrelevant structures. While the median Dice for pelvic lymph nodes was acceptable (0.73), the software lacked sub-regional differentiation, limiting its applicability in certain other oncologic settings. Conclusions: LC shows promise for automating OAR delineation in prostate radiotherapy, particularly for the bladder and rectum. Improvements are needed for bowel bag, sigmoid colon, and lymph node sub-regionalization. Further validation with a broader and larger patient cohort is recommended to assess generalizability. Full article

Synchronous colorectal cancer (SCRC) is characterized by the simultaneous occurrence of two or more primary colorectal malignancies, diagnosed either preoperatively, intraoperatively, or within six months postoperatively. The rare prevalence of SCRC makes it an uncommon scenario among colorectal malignancies. Since the majority of SCRC patients have been reported to have two concurrent malignancies, triple synchronous malignancies are extremely rare. We report the case of a 65-year-old male individual presenting with a history of abdominal pain, anemia, anorexia, and unintentional weight loss. He was diagnosed with synchronous colorectal cancer with three distinct tumors: two located in the splenic flexure and sigmoid colon, respectively, and another in the rectum that caused partial obstruction. This case highlights the importance of intraoperative evaluation and an appropriate choice of surgical intervention in colorectal cancer. The early identification and proper management of multiple colorectal cancers remain essential for better survival rates. Full article

Background: Endometrial cancer is the most common gynecologic malignancy in developed countries, with obesity recognized as a major risk factor contributing to its incidence. The rising prevalence of obesity has significant implications for treatment planning, particularly in radiation therapy approaches such as high-dose-rate (HDR) vaginal cuff brachytherapy, which is commonly used as adjuvant therapy in early-stage endometrial carcinoma. Body Mass Index (BMI) is a key factor in brachytherapy, as increased adiposity may alter dosimetric parameters, affecting radiation distribution and doses received by organs at risk (OARs). Understanding the correlation between BMI and radiation dose to OARs is essential for optimizing treatment planning and minimizing adverse effects. Identifying dose variations across different BMI categories may help refine patient-specific brachytherapy approaches to ensure both efficacy and safety. Objectives: This study aims to investigate the influence of Body Mass Index (BMI) on the doses received by organs at risk (OAR) during high-dose-rate (HDR) vaginal cuff brachytherapy in patients diagnosed with early-stage endometrial carcinoma. Understanding the relationship between BMI and OAR doses could enhance treatment planning and minimize complications. Methods: We collected brachytherapy data for 242 endometrial cancer patients treated with adjuvant HDR vaginal cuff brachytherapy. The patients were categorized based on their BMI into normal weight, overweight, and obese groups. Dosimetric data were collected for OARs, including the bladder, rectum, and sigmoid colon, and also for dose fractionation, D90%, and the active length of the brachytherapy cylinder. The analysis included comparing the doses received by each organ across different BMI categories using appropriate statistical methods. Results: Preliminary findings indicated a significant variation in the doses to OARs correlating with BMI classifications. Obese patients exhibited slightly higher mean doses to the rectum and sigmoid compared to those with a normal BMI. The statistical analysis demonstrated that as BMI increased, the dose to these organs at risk also tended to increase, suggesting a need for adjusted treatment planning strategies in this population. Conclusions: Obesity is a key concern in endometrial cancer patients, with higher BMI linked to slightly increased doses to the rectum and sigmoid, though treatment remained homogeneously delivered. Future prospective clinical studies are essential to explore the relationship between these dosimetric findings, specifically the correlation between higher BMI, increased doses to organs at risk (OARs), and late treatment-related toxicities. This research is needed to better understand the long-term implications and to optimize therapeutic outcomes. Full article

Background: Timely detection and removal of colonic adenomas are critical for preventing colorectal cancer. Methods: This study analyzed differences in colonic adenoma characteristics based on colonoscopy history by reviewing the medical records of 14,029 patients who underwent colonoscopy between January and June 2020 across 40 primary medical institutions in Korea. Results: Adenoma and advanced neoplasia characteristics varied significantly with colonoscopy history (p < 0.05). In the first-time colonoscopy group, adenomas were more frequent in the sigmoid colon (S-colon) and rectum, with Is features and non-granular laterally spreading tumors. Advanced neoplasia was also more common in the S-colon and rectum, with Is and advanced-type features. In the <5-year group, adenomas were predominantly found in the transverse colon (T-colon) and descending colon (D-colon), with IIa and IIb features. Advanced neoplasia in this group was more frequent in the cecum and T-colon, with IIa and IIb features and laterally spreading tumors. In the ≥5-year group, adenomas were more commonly located in the ascending colon (A-colon) and cecum, with Ip features, while advanced neoplasia was more frequent in the A-colon and D-colon, also with Ip features. Conclusions: Although every segment of the colorectum should be carefully observed regardless of colonoscopy history, these findings suggest that prioritizing specific colonic segments for examination based on colonoscopy history may improve adenoma detection rates and reduce the incidence of colorectal cancer. However, further large-scale, prospective studies are needed to confirm these findings and support their application in clinical practice. Full article

Colorectal polyps, precursors to colorectal cancer (CRC), require precise identification for appropriate diagnosis and therapy. This study aims to investigate the differences in hematological and inflammatory markers, specifically the CALLY index, HALP score, and immuno-inflammatory indexes, between neoplastic and nonneoplastic polyps. A retrospective cross-sectional study was conducted on 758 patients aged 61.0 ± 11.8 who underwent polypectomy between June 2021 and May 2024. Patients with colorectal adenocarcinoma (n = 22) were excluded. The polyps were classified into neoplastic and nonneoplastic categories based on histopathological evaluation. The study compared the CALLY index, HALP score, and various inflammatory indexes between neoplastic and nonneoplastic polyps. Out of 758 polyps analyzed, 514 were neoplastic, and 244 were nonneoplastic. Neoplastic polyps exhibited significantly lower CALLY and HALP scores (p < 0.05) and higher immuno-inflammatory indexes (p < 0.05) compared to nonneoplastic polyps. Dysplasia status, polyp diameter, and sigmoid colon localization were significant factors in determining neoplastic growth potential. No significant differences were observed in polyp localization in the proximal and distal colon segments or in solitary versus multiple polyps. The CALLY and HALP scores and immuno-inflammatory indexes can serve as valuable markers for distinguishing neoplastic from nonneoplastic polyps. These indexes reflect underlying inflammatory and immune responses, highlighting their potential utility in the early detection and risk stratification of colorectal polyps. Integrating these markers into clinical practice may enhance diagnostic accuracy and improve patient management, leading to timely interventions and better outcomes for individuals at risk of CRC. Full article

Colonic adenomas are considered a precursor of colorectal cancer. A 75-year-old woman had a history of post-operation left breast cancer. She received an excision when the left chest wall recurred. A later FDG PET/CT scan revealed a focal intense FDG accumulation in the sigmoid, a focal mild FDG uptake in the pericolic lymph node, and a focal increased FDG accumulation in the transverse colon. A delayed FDG PET/CT scan after the per-rectal administration of the laxative-augmented contrast medium revealed a filling defect with persistent FDG uptake in the sigmoid and transverse colon and mild FDG uptake in the pericolic lymph node. In addition, more lesions were observed in the rectum and descending colon. The pathology reports showed sigmoid adenocarcinoma with lymph node metastasis, and adenomas in the transverse colon, descending colon, and rectum. Full article

(1) Background: In our study, we aimed to determine the accuracy rates of imaging methods for sigmoid, rectosigmoid colon, and rectum cancer. (2) Methods: Patients with tumors located in the rectosigmoid colon, sigmoid colon, and rectum who were operated on were included. Upon admission, we examined the patients’ first diagnostic colonoscopies and their preoperative repeat control colonoscopies and computed tomography (CT) report. (3) Results: In this study, 23 patients (57.5%) were male. The overall accuracy rates were 80.0% (32/40) in colonoscopy, 65.0% (26/40) in preoperative CT, and 87.5% (35/40) in retro CT, and the differences among the examination methods were statistically significant (p = 0.049). The sensitivity levels decreased to 50.0% for colonoscopy and preoperative CT and 75.0% for retro CT in rectosigmoid colon tumors. In rectal tumors, the sensitivity levels were 75.0% in colonoscopy, 60.0% in preoperative CT, and 80.0% in retro CT. In two patients, the tumor location was given incorrectly, and postoperative pathological evaluations indicated T3N0 tumors; the initially planned treatment was thus changed to include radiotherapy in addition to chemotherapy in the postoperative period because the tumor was located in the middle rectum. (4) Conclusions: Accuracy in tumor localization in sigmoid, rectosigmoid, and rectum tumors still needs to be improved, which could be accomplished with prospective studies. CT evaluations for cancer localization in this patient group should be re-evaluated by a radiologist. Full article

Background and Objectives: The purpose of the study was to analyze the relationships among several clinical factors and also the tumor topography and surgical strategies used in patients with colorectal cancer. Materials and Methods: We designed an analytical, observational, retrospective study that included patients admitted to our emergency surgical department and diagnosed with colorectal cancer. The study group inclusion criteria were: patients admitted during 2020–2022; patients diagnosed with colorectal cancer (including the ileocecal valve); patients who benefited from a surgical procedure, either emergency or elective. Results: In our study group, consisting of 153 patients, we accounted for 56.9% male patients and 43.1% female patients. The most common clinical manifestations were pain (73.2% of the study group), followed by abdominal distension (69.3% of the study group) and absence of intestinal transit (38.6% of the study group). A total of 69 patients had emergency surgery (45.1%), while 84 patients (54.9%) benefited from elective surgery. The most frequent topography of the tumor was the sigmoid colon, with 19.60% of the patients, followed by the colorectal junction, with 15.68% of the patients, and superior rectum and inferior rectum, with 11.11% of the patients in each subcategory. The most frequent type of procedure was right hemicolectomy (21.6% of the study group), followed by rectosigmoid resection (20.9% of the study group). The surgical procedure was finished by performing an anastomosis in 49% of the patients, and an ostomy in 43.1% of the patients, while for 7.8% of the patients, a tumoral biopsy was performed. Conclusions: Colorectal cancer remains one of the most frequent cancers in the world, with a heavy burden that involves high mortality, alterations in the quality of life of patients and their families, and also the financial costs of the medical systems. Full article

(1) Background: The liver-first approach may be indicated for colorectal cancer patients with synchronous liver metastases to whom preoperative chemotherapy opens a potential window in which liver resection may be undertaken. This study aims to present the data of feasibility and short-term outcomes in the liver-first approach. (2) Methods: A prospective observational study was performed in Spanish hospitals that had a medium/high-volume of HPB surgeries from 1 June 2019 to 31 August 2020. (3) Results: In total, 40 hospitals participated, including a total of 2288 hepatectomies, 1350 for colorectal liver metastases, 150 of them (11.1%) using the liver-first approach, 63 (42.0%) in hospitals performing <50 hepatectomies/year. The proportion of patients as ASA III was significantly higher in centers performing ≥50 hepatectomies/year (difference: 18.9%; p = 0.0213). In 81.1% of the cases, the primary tumor was in the rectum or sigmoid colon. In total, 40% of the patients underwent major hepatectomies. The surgical approach was open surgery in 87 (58.0%) patients. Resection margins were R0 in 78.5% of the patients. In total, 40 (26.7%) patients had complications after the liver resection and 36 (27.3%) had complications after the primary resection. One-hundred and thirty-two (89.3%) patients completed the therapeutic regime. (4) Conclusions: There were no differences in the surgical outcomes between the centers performing <50 and ≥50 hepatectomies/year. Further analysis evaluating factors associated with clinical outcomes and determining the best candidates for this approach will be subsequently conducted. Full article

(1) Background: Secondary tumors of the hyoid bone are extremely rare in clinics. In the literature, there is only one study about hyoid bone metastases from sigmoid adenocarcinoma. (2) Methods: We report a case of hyoid bone metastases in a 78-year-old patient treated for rectum and sigmoid colon adenocarcinoma. (3) Results: A mass excision surgery of a rounded osteolytic mass of 4.5 × 3.6 cm in size in the central part of the hyoid bone was performed under general anesthesia, according to the multidisciplinary tumor board recommendation. (4) Conclusions: Hyoid bone metastases can occur in the rectum and sigmoid colon adenocarcinoma. A total body bone scintigraphy and CT examination are suggested to detect silent bone metastases in patients with a history of cancer and neck masses. The prognosis is good, but a regular follow-up is recommended. Full article

Background and Objectives: Colorectal cancer (CRC) incidence is rapidly emerging among individuals <50 years, termed as early-onset colorectal cancer (EOCRC). This study aimed to probe variations in tumorigenic pathology and relevant manifestations (polyp and adenoma incidence) between suspected cases of EOCRC and late-onset CRC (LOCRC; ≥50 years of age). Materials and Methods: Between September 2022 and February 2023, colonoscopy-based screening data from 1653 patients were included in this study. All eligible participants were divided into two groups, depending upon patient age, where Group 1 consisted of 1021 patients aged <50 years while Group 2 consisted of 632 patients aged ≥ 50 years. Polyp samples were collected when identified peri-procedurally and characterized according to World Health Organization criteria. Results: Polyp detection rate was 42% for the <50-year age group, while this was 76% for the ≥50-year age group. Additionally, the <50-year age group predominated in hyperplastic polyp manifestation, particularly within the rectum and sigmoid colon. In addition, the ≥50-year age group had increased prevalence of serrated polyps and differing adenoma manifestations. Conclusions: This investigation served to highlight the importance of age stratification for CRC colonoscopy-based screening effectiveness, with particular reference to evaluations that are based on polyp localization within differing colon regions. Full article