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Cancer Epidemiology Jun 2024Serrated lesions and polyps (SP) are precursors of up to 30 % of colorectal cancers (CRC) through the serrated pathway. This often entails early BRAF mutations and...
BACKGROUND
Serrated lesions and polyps (SP) are precursors of up to 30 % of colorectal cancers (CRC) through the serrated pathway. This often entails early BRAF mutations and MLH1 hypermethylation leading to mismatch repair deficient (dMMR) CRC. We investigated predictors of dMMR CRC among patients with co-occurrence of CRC and SP to increase our knowledge on the serrated pathway.
METHODS
We used data from The Danish Pathology Registry and Danish Colorectal Cancer Groups Database from the period 2010-2021 to investigate risk factors for development of dMMR CRC. We used logistic regression models to identify difference in risk factors of developing dMMR CRC in comparison to CRC with proficient MMR (pMMR).
RESULTS
We included 3273 patients with a median age of 70.7 years [64.3,76.4] of which 1850 (56.5 %) were male. dMMR CRC was present in 592 patients (18.1 %), with loss of MLH1/PMS2 being most common. The risk of dMMR CRC was significantly higher in females OR 3.47 [2.87;4.20]. When adjusting for age, SP subtype, conventional adenomas (CA), anatomical location and lifestyle factors, female sex remained the strongest predictor OR 2.84 [2.27;3.56]. The presence of sessile serrated lesions with or without dysplasia was related to higher risk OR 1.60 [1.11;2.31] and OR 1.42 [1.11;1.82] respectively, while conventional adenomas constituted a lower risk OR 0.68 [0.55;0.84].
CONCLUSION
In conclusion we found several predictors of whom female sex had the strongest correlation with dMMR CRC in patients with SP.
PubMed: 38905781
DOI: 10.1016/j.canep.2024.102601 -
Medicine Jun 2024The purpose of this study was to thoroughly evaluate the clinical features and surgical options for high-grade squamous intraepithelial lesions (HSIL) in postmenopausal...
Analysis of the clinical characteristics and surgical methods of high-grade squamous intraepithelial lesions of the cervix in postmenopausal women: A retrospective case study.
The purpose of this study was to thoroughly evaluate the clinical features and surgical options for high-grade squamous intraepithelial lesions (HSIL) in postmenopausal women. A total of 308 patients diagnosed with HSIL through colposcopic cervical biopsy and endocervical curettage were included. Their clinical characteristics, surgical treatments, and postoperative pathology were analyzed. Key findings include: 1. Patients with positive preoperative thinprep cytologic test (TCT) results and postoperative pathology indicating HSIL or squamous cell carcinoma (≥HSIL) were significantly more frequent than those with negative preoperative TCT results (P < .05). 2. Univariate analysis indicated significant impacts of TCT, human papillomavirus (HPV) type, transformation zone (TZ) location, and surgical technique on postoperative pathology (P < .05). 3. Logistic regression analysis confirmed significant influences of TCT, HPV type, TZ location, and surgical method on postoperative pathology outcomes (P < .05), showing that each unit increase in TZ raised the probability of ≥HSIL in postoperative pathology by 49.7%. In surgical comparisons, cold knife conization (CKC) and extrafascial hysterectomy resulted in 8.379 and 4.427 times higher probabilities of ≥HSIL in postoperative pathology, respectively, compared to loop electrosurgical excision procedure (LEEP). 4. Surgical methods significantly influenced margin results (P < .05). After LEEP, 17.5% of cases had positive margins, compared to 9.4% after CKC, and 3.7% after extrafascial hysterectomy, indicating the highest rate of positive surgical margins occurred with LEEP. 1. Combined TCT and HPV screening is crucial for cervical cancer prevention, early detection, and management in postmenopausal women. Women with positive results for both TCT and HPV should undergo colposcopic cervical biopsy and endocervical curettage. 2. For patients with TZ3, CKC is the recommended surgical option. 3. CKC is the preferred treatment for postmenopausal women with HSIL, as it effectively diagnoses and treats the lesion, showing superior outcomes in managing postmenopausal HSIL.
Topics: Humans; Female; Retrospective Studies; Middle Aged; Postmenopause; Uterine Cervical Neoplasms; Squamous Intraepithelial Lesions of the Cervix; Aged; Conization; Colposcopy; Hysterectomy; Papillomavirus Infections; Cervix Uteri; Biopsy; Uterine Cervical Dysplasia; Carcinoma, Squamous Cell
PubMed: 38905358
DOI: 10.1097/MD.0000000000038657 -
International Journal of Medical... 2024CD44 genetic variants have been found to be related to various cancers. However, to date, no study has demonstrated the involvement of CD44 polymorphisms in uterine...
CD44 genetic variants have been found to be related to various cancers. However, to date, no study has demonstrated the involvement of CD44 polymorphisms in uterine cervical cancer in Taiwanese women. Therefore, we conducted a retrospective study, consecutively recruiting 113 patients with invasive cancer, 92 patients with high-grade cervical intraepithelial neoplasias, and 302 control women to assess the relationships among CD44 polymorphisms, cervical carcinogenesis, and patient survival. Real-time polymerase chain reaction was used to determine the genotypic distributions of six polymorphisms: rs1425802, rs187115, rs713330, rs11821102, rs10836347, and rs13347. The results revealed that women with the mutant homozygous genotype CC exhibited a higher risk of invasive cancer compared to those with the wild homozygous genotype TT [p=0.035; hazard ratio (HR)=10.29, 95% confidence interval (95% CI)=1.18-89.40] and TT/TC [p=0.032; HR=10.66, 95% CI=1.23-92.11] in the CD44 polymorphism rs713330. No significant association was found between CD44 genetic variants and clinicopathological parameters. Among the clinicopathological parameters, only positive pelvic lymph node metastasis (p=0.002; HR=8.57, 95% CI=2.14-34.38) and the AG/GG genotype compared to AA (p=0.014; HR=3.30, 95% CI=1.28-8.49) in CD44 polymorphism rs187115 predicted a higher risk of poor five-year survival, according to multivariate analysis. In conclusion, an important and novel finding revealed that Taiwanese women with the AG/GG genotype in CD44 polymorphism rs187115 exhibited a higher risk of poor five-year survival.
Topics: Humans; Female; Uterine Cervical Neoplasms; Hyaluronan Receptors; Middle Aged; Polymorphism, Single Nucleotide; Adult; Retrospective Studies; Genetic Predisposition to Disease; Taiwan; Genotype; Aged; Uterine Cervical Dysplasia; Lymphatic Metastasis
PubMed: 38903932
DOI: 10.7150/ijms.96414 -
Cureus May 2024Crossed fused renal ectopia (CFRE) is a rare congenital anomaly in which a kidney is located on the opposite side from where its ureter connects to the bladder, merging...
Crossed fused renal ectopia (CFRE) is a rare congenital anomaly in which a kidney is located on the opposite side from where its ureter connects to the bladder, merging into the other kidney. It has been linked to other rare congenital malformations, including the VACTERL association (vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb abnormalities), the MURCS association (müllerian ducts, renal, and cervicothoracic spine anomalies), increased incidence of infections, obstruction, cystic dysplasia, and urolithiasis. Although the literature has documented only a small number of cases wherein CFRE coincides with neoplasia, we present the case of a 59-year-old patient with a right ectopic kidney fused to the left one and simultaneous primary renal cell carcinoma. We aim to report and discuss this case and the treatment approach, comparing it with existing literature to enhance our understanding and management of similar occurrences, as partial nephrectomy is uncommon due to the challenging anatomy of these cases.
PubMed: 38903300
DOI: 10.7759/cureus.60789 -
Scientific Reports Jun 2024The mechanism and predictive biomarkers of sinonasal inverted papilloma (IP) transformation into squamous cell carcinoma (SCC) are still unclear. We investigated the...
The mechanism and predictive biomarkers of sinonasal inverted papilloma (IP) transformation into squamous cell carcinoma (SCC) are still unclear. We investigated the genetic mutations involved and the predictive biomarkers. Fourteen patients with SCC arising from IP and six patients with IPs without malignant transformation (sIP) were included. DNA was extracted separately from areas of normal tissue, IP, dysplasia, and SCC. Whole exome sequencing and immunohistochemistry was performed. Major oncogenic mutations were observed in the progression from IP to SCC. The most frequently mutated genes were TP53 (39%) and CDKN2A (27%). Mutations in TP53 and/or CDKN2A were observed in three of six IPs with malignant transformation (cIP); none were observed in sIPs. Tumor mutational burden (TMB) increased from IP to SCC (0.64/Mb, 1.11/Mb, and 1.25 for IP, dysplasia, and SCC, respectively). TMB was higher in the cIPs than in the sIPs (0.64/Mb vs 0.3/Mb). Three cIPs showed a diffuse strong or null pattern in p53, and one showed a total loss of p16, a distinct pattern from sIPs. Our result suggests that TP53 and CDKN2A status can be predictive markers of malignant transformation of IP. Furthermore, immunohistochemistry of p53 and p16 expression can be surrogate markers for TP53 and CDKN2A status.
Topics: Humans; Papilloma, Inverted; Tumor Suppressor Protein p53; Cyclin-Dependent Kinase Inhibitor p16; Male; Female; Cell Transformation, Neoplastic; Middle Aged; Biomarkers, Tumor; Aged; Paranasal Sinus Neoplasms; Mutation; Carcinoma, Squamous Cell; Adult; Aged, 80 and over; Exome Sequencing; Immunohistochemistry
PubMed: 38902320
DOI: 10.1038/s41598-024-64901-z -
JCI Insight Jun 2024Men who have sex with men (MSM) with HIV are at high risk for squamous intraepithelial lesion (SIL) and anal cancer. Identifying local immunological mechanisms involved...
Men who have sex with men (MSM) with HIV are at high risk for squamous intraepithelial lesion (SIL) and anal cancer. Identifying local immunological mechanisms involved in the development of anal dysplasia could aid treatment and diagnostics. Here we studied 111 anal biopsies obtained from 101 MSM with HIV, who participated in an anal screening program. We first assessed multiple immune subsets by flow cytometry, in addition to histological examination, in a discovery cohort (n = 54). Selected molecules were further evaluated by immunohistochemistry in a validation cohort (n = 47). Pathological samples were characterized by the presence of Resident Memory T cells with low expression of CD103 and by changes in Natural Killer cell subsets, affecting residency and activation. Furthermore, potentially immune suppressive subsets, including CD15+CD16+ mature neutrophils, gradually increased as the anal lesion progressed. Immunohistochemistry confirmed the association between the presence of CD15 in the epithelium and SIL diagnosis, with a sensitivity of 80% and specificity of 71% (AUC 0.762) for the correlation with high-grade SIL. A complex immunological environment with imbalanced proportions of resident effectors and immune suppressive subsets characterizes pathological samples. Neutrophil infiltration, determined by CD15 staining, may represent a valuable pathological marker associated with the grade of dysplasia.
PubMed: 38900571
DOI: 10.1172/jci.insight.175251 -
Maxillofacial Plastic and... Jun 2024Focal and florid cemento-osseous dysplasia are benign fibro-osseous lesions affecting the quality and quantity of the jawbones. This study aimed to determine the... (Review)
Review
BACKGROUND
Focal and florid cemento-osseous dysplasia are benign fibro-osseous lesions affecting the quality and quantity of the jawbones. This study aimed to determine the viability of implant-based approaches in the affected patients.
MAIN TEXT
Different scientific databases, including PubMed/MEDLINE, Scopus, Web of Science, Embase, the Cochrane Library, and Google Scholar, were searched until October 8, 2023, using a pre-determined search strategy. Two reviewers screened the retrieved reports and extracted the required information from the included studies. The eligibility criteria included English-language case reports/series or clinical trials. The JBI critical appraisal checklist for case reports was used to assess the methodological quality of the included studies. Three studies were deemed eligible to be included in this study out of the initial 202 records found. Five implants were placed in three patients, positioned in the proximity of the lesion area, without any additional treatment to remove the pathology. The mandibular posterior area was the affected site in all patients. Only one implant failed in one patient after 16 years, which was attributed to peri-implantitis and not the lesion. Other implants demonstrated successful maintenance over follow-up periods.
CONCLUSIONS
Although the number of the included records was relatively low to draw firm conclusions, it seems that implant-based treatments in patients with focal/florid cemento-osseous dysplasia could be viable, considering a conservative and well-planned approach.
PubMed: 38900334
DOI: 10.1186/s40902-024-00432-x -
World Journal of Clinical Cases Jun 2024The diagnosis of pancreatic cancer associates an appalling significance. Detection of preinvasive stage of pancreatic cancer will ameliorate the survival of this deadly...
The diagnosis of pancreatic cancer associates an appalling significance. Detection of preinvasive stage of pancreatic cancer will ameliorate the survival of this deadly disease. Premalignant lesions such as Intraductal Papillary Mucinous Neoplasms or Mucinous Cystic Neoplasms of the pancreas are detectable on imaging exams and this permits their management prior their invasive development. Pancreatic intraepithelial neoplasms (PanIN) are the most frequent precursors of pancreatic adenocarcinoma (PDAC), and its particular type PanIN high-grade represents the malignant non-invasive form of PDAC. Unfortunately, PanINs are not detectable on radiologic exams. Nevertheless, they can associate indirect imaging signs which would rise the diagnostic suspicion. When this suspicion is established, the patient will be enrolled in a follow-up strategy that includes performing of blood test and serial imaging test such as computed tomography or magnetic resonance imaging, which will cost in the best-case scenario a burden of healthcare systems, and potential mortality in the worst-case scenario when the patient underwent resection surgery, worthless when there is no moderate or high grade dysplasia in the final histopathology. This issue will be avoid having at its disposal a diagnostic technique capable of detecting high-grade PanIN lesions, such is the cytology of pancreatic juice obtained by nasopancreatic intubation. Herein, we review the possibility of detection of early malignant lesions before they become invasive PADC.
PubMed: 38898835
DOI: 10.12998/wjcc.v12.i17.2935 -
World Journal of Clinical Cases Jun 2024Function-preserving pancreatectomy can improve the long-term quality of life of patients with benign or low-grade malignant tumors, such as intraductal papillary...
BACKGROUND
Function-preserving pancreatectomy can improve the long-term quality of life of patients with benign or low-grade malignant tumors, such as intraductal papillary mucinous neoplasms (IPMNs) and mucinous cystic neoplasms. However, there is limited literature on laparoscopic spleen-preserving total pancreatectomy (L-SpTP) due to technical difficulties.
CASE SUMMARY
Patient 1 was a 51-year-old male diagnosed with IPMN based on preoperative imaging, showing solid nodules in the pancreatic head and diffuse dilation of the main pancreatic duct with atrophy of the distal pancreas. We performed L-SpTP with preservation of the splenic vessels, and the postoperative pathology report revealed IPMN with invasive carcinoma. Patient 2 was a 60-year-old male with multiple cystic lesions in the pancreatic head and body. L-SpTP was performed, and intraoperatively, the splenic vein was injured and required ligation. Postoperative pathology revealed a mucinous cystic tumor of the pancreas with low-grade dysplasia. Both patients were discharged on postoperative day 7, and there were no major complications during the perioperative period.
CONCLUSION
We believe that L-SpTP is a safe and feasible treatment for low-grade malignant pancreatic tumors, but more case studies are needed to evaluate its safety, efficacy, and long-term outcomes.
PubMed: 38898831
DOI: 10.12998/wjcc.v12.i17.3206 -
Vascular Medicine (London, England) Jun 2024Spontaneous coronary artery dissection (SCAD) is a nonatherosclerotic cause of myocardial infarction. Migraine headache has been reported to be common among patients...
INTRODUCTION
Spontaneous coronary artery dissection (SCAD) is a nonatherosclerotic cause of myocardial infarction. Migraine headache has been reported to be common among patients with SCAD, but the degree of migraine-related disability has not been quantified.
METHODS
Clinical data and headache variables were obtained from the baseline assessment of the prospective, multicenter iSCAD Registry. Migraine-related disability was quantified using the self-reported Migraine Disability Assessment (MIDAS). Demographic, clinical, psychosocial, and medical characteristics from data entry forms were compared between patients with and without migraine.
RESULTS
Of the 773 patients with available data, 46% reported previous or current migraines. Those with migraines were more likely to be women (96.9% vs 90.3%, = 0.0003). The presence of underlying carotid fibromuscular dysplasia was associated with migraine (35% vs 27%, = 0.0175). There was not a significant association with carotid artery dissection and migraine. Current migraine frequency was less than monthly (58%), monthly (24%), weekly (16%), and daily (3%). Triptan use was reported in 32.5% of patients, and 17.5% used daily migraine prophylactic medications. Using the MIDAS to quantify disability related to migraine, 60.2% reported little or no disability, 14.4% mild, 12.7% moderate, and 12.7% severe. The mean MIDAS score was 9.9 (mild to moderate disability). Patients with SCAD had higher rates of depression and anxiety (28.2% vs 17.7% [ = 0.0004] and 35.3% vs 26.7% [ = 0.0099], respectively).
CONCLUSIONS
Migraines are common, frequent, and a source of disability in patients with SCAD. The association between female sex, anxiety, and depression may provide some insight for potential treatment modalities.
Topics: Humans; Female; Registries; Male; Migraine Disorders; Middle Aged; Vascular Diseases; Coronary Vessel Anomalies; Adult; Prospective Studies; Risk Factors; Disability Evaluation; Aged; Fibromuscular Dysplasia; Depression
PubMed: 38898631
DOI: 10.1177/1358863X241252444