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Gynecologic Oncology Mar 2023Investigating for mismatch repair protein deficiency (MMRd), microsatellite instability (MSI), and Lynch syndrome (LS) is widely accepted in endometrial cancer, but... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Investigating for mismatch repair protein deficiency (MMRd), microsatellite instability (MSI), and Lynch syndrome (LS) is widely accepted in endometrial cancer, but knowledge is limited on its value in epithelial ovarian cancer (EOC). The primary objective was to evaluate the prevalence of mismatch repair protein deficiency (MMRd), microsatellite instability (MSI)-high, and Lynch syndrome (LS) in epithelial ovarian cancer (EOC), as well as the diagnostic accuracy of LS screening tests. The secondary objective was to determine the prevalence of MMRd, MSI-high, and LS in synchronous ovarian endometrial cancer and in histological subtypes.
METHODS
We systematically searched the MEDLINE, Epub Ahead of Print, MEDLINE In-Process and Other Non-Indexed Citations, Cochrane Central Register of Controlled Trials, and Embase databases. We included studies analysing MMR, MSI, and/or LS by sequencing.
RESULTS
A total of 55 studies were included. The prevalence of MMRd, MSI-high, and LS in EOC was 6% (95% confidence interval (CI) 5-8%), 13% (95% CI 12-15%), and 2% (95% CI 1-3%) respectively. Hypermethylation was present in 76% of patients with MLH1 deficiency (95% CI 64-84%). The MMRd prevalence was highest in endometrioid (12%) followed by non-serous non-mucinous (9%) and lowest in serous (1%) histological subtypes. MSI-high prevalence was highest in endometrioid (12%) and non-serous non-mucinous (12%) and lowest in serous (9%) histological subtypes. Synchronous and endometrioid EOC had the highest prevalence of LS pathogenic variants at 7% and 3% respectively, with serous having lowest prevalence (1%). Synchronous ovarian and endometrial cancers had highest rates of MMRd (28%) and MSI-high (28%). Sensitivity was highest for IHC (91.1%) and IHC with MSI (92.8%), while specificity was highest for IHC with methylation (92.3%).
CONCLUSION
MMRd and germline LS testing should be considered for non-serous non-mucinous EOC, particularly for endometrioid.
PRECIS
The rates of mismatch repair deficiency, microsatellite instability high, and mismatch repair germline mutations are highest in endometrioid subtype and non-serous non-mucinous ovarian cancer. The rates are lowest in serous histologic subtype.
Topics: Humans; Female; Colorectal Neoplasms, Hereditary Nonpolyposis; Carcinoma, Ovarian Epithelial; Microsatellite Instability; Ovarian Neoplasms; Carcinoma, Endometrioid; Endometrial Neoplasms; Protein Deficiency; DNA Mismatch Repair; MutL Protein Homolog 1
PubMed: 36682091
DOI: 10.1016/j.ygyno.2022.12.008 -
Medicina (Kaunas, Lithuania) Jul 2022Pancreatic cystic lesions (PCLs) are frequently incidental findings. The prevalence of PCLs is increasing, mainly due to advancements in imaging techniques, but also... (Review)
Review
Pancreatic cystic lesions (PCLs) are frequently incidental findings. The prevalence of PCLs is increasing, mainly due to advancements in imaging techniques, but also because of the aging of the population. PCLs comprise challenging clinical problems, as their manifestations vary from benign to malignant lesions. Therefore, the recognition of PCLs is achieved through a complex diagnostic and surveillance process, which in turn is usually long-term, invasive, and expensive. Despite the progress made in the identification of novel biomarkers in the cystic fluid that also support the differentiation of PCLs, their application in clinical practice is limited. We conducted a systematic review of the literature published in two databases, Pubmed and Embase, on biochemical biomarkers in PCLs that may be applied in the diagnostic algorithms of PCLs. Eleven studies on intracystic glucose, twenty studies on intracystic carcinoembryonic antigen (CEA), and eighteen studies on other biomarkers were identified. Low levels of intracystic glucose had high sensitivity and specificity in the differentiation between mucinous and non-mucinous cystic neoplasms. CEA and glucose are the most widely studied fluid biochemical markers in pancreatic cystic lesions. Glucose has better diagnostic accuracy than CEA. Other biochemical biomarkers require further research.
Topics: Biomarkers, Tumor; Carcinoembryonic Antigen; Diagnosis, Differential; Glucose; Humans; Pancreatic Cyst; Pancreatic Neoplasms
PubMed: 35893110
DOI: 10.3390/medicina58080994 -
Critical Reviews in Food Science and... Jul 2023Carotenoids have anti-inflammatory and antioxidant properties, being a potential bioactive compound for gut health. The objective of this systematic review was to... (Review)
Review
Carotenoids have anti-inflammatory and antioxidant properties, being a potential bioactive compound for gut health. The objective of this systematic review was to investigate the effects of carotenoids on gut microbiota, gut barrier, and inflammation in healthy animals. The systematic search from PubMed, Scopus, and Lilacs databases were performed up to March 2023. The final screening included thirty studies, with different animal models (mice, rats, pigs, chicks, drosophila, fish, and shrimp), and different carotenoid sources (β-carotene, lycopene, astaxanthin, zeaxanthin, lutein, and fucoxanthin). The results suggested that carotenoids seem to act on gut microbiota by promoting beneficial effects on intestinal bacteria related to both inflammation and SCFA production; increase tight junction proteins expression, important for reducing intestinal permeability; increase the mucins expression, important in protecting against pathogens and toxins; improve morphological parameters important for digestion and absorption of nutrients; and reduce pro-inflammatory and increase anti-inflammatory cytokines. However, different carotenoids had distinct effects on gut health. In addition, there was heterogeneity between studies regarding animal model, duration of intervention, and doses used. This is the first systematic review to address the effects of carotenoids on gut health. Further studies are needed to better understand the effects of carotenoids on gut health.
PubMed: 37450500
DOI: 10.1080/10408398.2023.2234025 -
International Journal of Medical... 2023The members of the transmembrane emp24 domain-containing protein (TMED) family are summarized in human as four subfamilies, α (TMED 4, 9), β (TMED 2), γ (TMED1, 3, 5,... (Review)
Review
The members of the transmembrane emp24 domain-containing protein (TMED) family are summarized in human as four subfamilies, α (TMED 4, 9), β (TMED 2), γ (TMED1, 3, 5, 6, 7) and δ (TMED 10), with a total of nine members, which are important regulators of intracellular protein transport and are involved in normal embryonic development, as well as in the pathogenic processes of many human diseases. Here we systematically review the composition, structure and function of TMED family members, and describe the progress of TMED family in human diseases, including malignancies (head and neck tumors, lung cancer, breast cancer, ovarian cancer, endometrial cancer, gastrointestinal tumors, urological tumors, osteosarcomas, etc.), immune responses, diabetes, neurodegenerative diseases, and nonalcoholic fatty liver disease, dilated cardiomyopathy, mucin 1 nephropathy (MKD), and desiccation syndrome (SS). Finally, we discuss and prospect the potential of TMED for disease prognosis prediction and therapeutic targeting, with a view to laying the foundation for therapeutic research based on TMED family causative genes.
Topics: Pregnancy; Female; Humans; Membrane Proteins; Protein Transport; Non-alcoholic Fatty Liver Disease; Vesicular Transport Proteins
PubMed: 37928880
DOI: 10.7150/ijms.87272 -
Skin Appendage Disorders May 2022Hematohidrosis and hemolacria are 2 conditions surrounded in religiousness, mysticism, and supernatural superstitions. While the mechanism is still unclear, these cases...
INTRODUCTION
Hematohidrosis and hemolacria are 2 conditions surrounded in religiousness, mysticism, and supernatural superstitions. While the mechanism is still unclear, these cases have amazed physicians for centuries.
METHODS
We performed a systematic review in PubMed from 2000 to mid-2021 accounting for 75 studies from which we included 60 cases in 53 articles which were described.
RESULTS
The median age of apparition was 24 years with the youngest case being 12 and the oldest 81. Some of the diseases were secondary to other causes such as hemangiomas and other neoplasias or epistaxis episodes. Most of the cases have been reported in India and the USA; most of them correspond to hemolacria alone (51.6%).
DISCUSSION
We have stated the basics of the substances involved in the coagulation process that have been described as genetically altered in some patients such as mucins, metalloproteinases, and fibrinogen, as well as propose a mechanism that can explain the signs of this particular entity and approach to its treatment as well as provide the first trichoscopy image of a patient with hemolacria.
PubMed: 35707284
DOI: 10.1159/000520648 -
Epidemiology (Cambridge, Mass.) Jan 2018It has been posited that there is an association between perineal talc use and the incidence of ovarian cancer. To date, this has only been explored in observational... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
It has been posited that there is an association between perineal talc use and the incidence of ovarian cancer. To date, this has only been explored in observational studies.
OBJECTIVES
To perform a meta-analysis to evaluate the association between perineal talc use and risk of ovarian cancer.
METHODS
Studies were identified using six electronic databases. Observational studies involving at least 50 cases of ovarian cancer were eligible for inclusion. We analyzed the association between ovarian cancer, including specific types, and any perineal talc use, long-term (>10 years) use, total lifetime applications, and use on diaphragms or sanitary napkins. A subgroup analysis was performed, stratifying by study design and population.
RESULTS
We identified 24 case-control (13,421 cases) and three cohort studies (890 cases, 181,860 person-years). Any perineal talc use was associated with increased risk of ovarian cancer (OR = 1.31; 95% CI = 1.24, 1.39). More than 3600 lifetime applications (OR = 1.42; 95% CI = 1.25, 1.61) were slightly more associated with ovarian cancer than <3600 (OR = 1.32; 95% CI = 1.15, 1.50). An association with ever use of talc was found in case-control studies (OR = 1.35; 95% CI = 1.27, 1.43), but not cohort studies (OR = 1.06; 95% CI = 0.90, 1.25). However, cohort studies found an association between talc use and invasive serous type ovarian cancer (OR = 1.25; 95% CI = 1.01, 1.55). We found an increased risk of serous and endometrioid, but not mucinous or clear cell subtypes.
CONCLUSIONS
In general, there is a consistent association between perineal talc use and ovarian cancer. Some variation in the magnitude of the effect was found when considering study design and ovarian cancer subtype.
Topics: Antiperspirants; Carcinoma, Endometrioid; Case-Control Studies; Female; Humans; Incidence; Neoplasms, Cystic, Mucinous, and Serous; Odds Ratio; Ovarian Neoplasms; Perineum; Risk Factors; Talc
PubMed: 28863045
DOI: 10.1097/EDE.0000000000000745 -
BJOG : An International Journal of... Mar 2016Mucinous and serous borderline ovarian tumours (mBOTs and sBOTs) are controversial diseases. (Review)
Review
BACKGROUND
Mucinous and serous borderline ovarian tumours (mBOTs and sBOTs) are controversial diseases.
OBJECTIVES
With this systematic review we aim to evaluate the different high-risk histopathological features and recurrence rates.
SEARCH STRATEGY
The PubMed database was searched using two terms: {serous AND [(borderline) OR (low malignant potential)] AND ovarian AND tumour} and {mucinous AND [(borderline) OR (low malignant potential)] AND ovarian AND tumour}.
SELECTION CRITERIA
Cohorts of either sBOT or mBOT, peer-reviewed, retrospective, or prospective.
DATA COLLECTION AND ANALYSIS
Lethal recurrence data for micropapillary patterns (MPs), microinvasion, non-invasive and invasive implants, and intraepithelial carcinoma (IECA). The primary measure of effect was the odds ratio of lethal recurrence reduction.
RESULTS
Data from patients in 42 studies including 4414 sBOTs and 12 studies including 894 mBOTs were pooled. Of these, 53.3% presented early-stage typical sBOTs, 24.4% presented with MPs, 22.3% presented with microinvasion, 34.4% presented with non-invasive implants, and 7.3% presented with invasive implants. The pooled lethal recurrence rates were, respectively: 18.3, 16.8, 10.7, 16.2, and 33.8%. Patients with MPs were more likely to suffer lethal recurrence when compared with high-stage sBOTs (odds ratio, OR 0.501; P = 0.003), whereas the trend in microinvasive sBOTs did not reach statistical significance. Regarding mBOTs, 61.6% presented with early-stage typical mBOTs, 19.6% presented with microinvasion, 34.8% presented with IECA, and six patients presented with non-invasive implants; none presented with invasive implants. The lethal recurrence rates were, respectively: 3.6, 0, 3.7, and 0%.
CONCLUSION
Micropapillary patterns (MPs) showed a higher risk for lethal recurrence when compared with high-stage sBOTs. Regarding mBOTs, IECA and microinvasion do not play a role in the lethal recurrence rate.
TWEETABLE ABSTRACT
Micropapillary pattern confirmed as high-risk in BOT. IECA and microinvasion don't play a role in mucinous BOT.
Topics: Carcinoma in Situ; Female; Humans; Neoplasm Recurrence, Local; Neoplasms, Cystic, Mucinous, and Serous; Ovarian Neoplasms; Ovariectomy; Prognosis; Prospective Studies; Retrospective Studies; Risk Factors; Salpingectomy; Time Factors
PubMed: 26705090
DOI: 10.1111/1471-0528.13840 -
Annals of Surgical Oncology Jan 2020The role of somatic mutation profiling in the management of appendiceal mucinous tumors (AMTs) is evolving. Using a systematic review, we identified somatic alterations...
INTRODUCTION
The role of somatic mutation profiling in the management of appendiceal mucinous tumors (AMTs) is evolving. Using a systematic review, we identified somatic alterations (SAs) that comprise histopathologic types of AMTs and those associated with aggressive clinical phenotypes.
METHODS
MEDLINE/PubMed was searched for studies on AMTs including molecular markers or genomic alterations, published between 1990 and 2018. Studies were grouped under low- and high-grade histological type for primary and metastatic tumors.
RESULTS
Twenty-one studies involving 1099 tumors (primary/metastatic) were identified. Seven studies involving 101 primary low-grade AMTs identified KRAS (76.5%) as the predominant SA. Four studies noted GNAS in 45.2% of 42 low-grade appendiceal mucinous neoplasms, and KRAS was identified in 74.4% of 14 studies with 238 low-grade pseudomyxoma peritonei (PMP). GNAS was noted in 56% of 101 tumors and TP53 was noted in only 9.7% of 31 tumors. Primary high-grade tumors demonstrated lower SAs in KRAS (50.4% of 369 tumors) and GNAS (27.8% of 97 tumors), and higher SAs in TP53 (26.0% of 123 tumors). In high-grade PMP, SAs were noted in KRAS (55.0% of 200 tumors), GNAS (35.0% of 60 tumors), and TP53 (26.3% of 19 tumors). No clear association was noted between SAs and survival.
CONCLUSIONS
KRAS and GNAS are frequently altered in low-grade AMTs, while TP53 is frequently altered in high-grade AMTs, with no apparent change in expression between primary and metastatic tumors. Although SAs may provide valuable insights into variability in tumor biology, larger studies utilizing clinically annotated genomic databases from multi-institutional consortiums are needed to improve their identification and clinical applicability.
Topics: Adenocarcinoma, Mucinous; Appendiceal Neoplasms; Biomarkers, Tumor; Genetic Markers; Humans; Mutation; Phenotype; Prognosis
PubMed: 31583543
DOI: 10.1245/s10434-019-07879-7 -
Pancreas 2018This study aimed to identify factors that explain the association of intraductal papillary mucinous neoplasms-pancreatic neuroendocrine tumors (IPMNs-PNETs),... (Review)
Review
OBJECTIVES
This study aimed to identify factors that explain the association of intraductal papillary mucinous neoplasms-pancreatic neuroendocrine tumors (IPMNs-PNETs), radiological characteristics, and factors that might guide therapy.
METHODS
We performed a systematic review of the literature to search for articles on concurrent IPMN-PNET, mixed endocrine-exocrine pancreatic tumors, and/or PNET with an intraductal growth pattern.
RESULTS
A review of the literature suggests that there is some confusion about association of IPMNs-PNETs. Regarding this association, the studies collected data from 32 patients. Eleven patients presented concurrent tumors, 9 mixed endocrine-exocrine tumors, and no data were available in the remaining 7. In addition, the relationship IPMN-PNET focuses not only on the coexistence of the 2 lesions, but also on the possibility of the intraductal growth of the endocrine lesion. In the literature, in 4 cases, the preoperative radiological diagnosis had been IPMN.
CONCLUSIONS
Intraductal papillary mucinous neoplasms and PNETs may be associated in a number of scenarios. The association may be due to the concurrent existence of independent lesions, may be a mixed endocrine-exocrine tumor, or may be due to intraductal growth of the endocrine lesion. But the literature is confusing. It is not known whether the association is accidental or whether there is an etiological reason. Further studies are needed to investigate this scenario.
Topics: Adenocarcinoma, Mucinous; Carcinoma, Pancreatic Ductal; Carcinoma, Papillary; Humans; Neuroendocrine Tumors; Pancreas; Pancreatic Neoplasms
PubMed: 29683974
DOI: 10.1097/MPA.0000000000001048 -
Cancer Reports (Hoboken, N.J.) Nov 2022Excess weight is convincingly associated with several cancers, but the association with ovarian cancer is insufficiently clarified, in particular regarding subgroups... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Excess weight is convincingly associated with several cancers, but the association with ovarian cancer is insufficiently clarified, in particular regarding subgroups defined by menopausal status and ovarian cancer histologic type.
AIMS
We carried out a comprehensive systematic review and meta-analysis of overweight and obesity in relation to ovarian cancer with focus on different subgroups.
METHODS AND RESULTS
We searched PubMed and Web of Science for relevant cohort and case-control studies published from inception to June 2021 in English language and using a clear definition of overweight and obesity. We combined maximally adjusted risk estimates using a random effects model. We analyzed data from 15 cohort and 26 case-control studies, including 28 471 ovarian cancer cases. The relative risk of ovarian cancer for overweight and obesity was 1.06 (95% confidence interval [CI] = 1.00-1.12) and 1.19 (95% CI = 1.11-1.28), respectively. Among premenopausal women, increased ovarian cancer risk was noted for overweight (RR 1.34; 95% CI = 1.03-1.75) and obesity (RR 1.51; 95% CI = 1.21-1.88). By comparison, among postmenopausal women no statistically significant association was found for overweight (RR 1.00; 95% CI 0.87-1.14) and obesity (RR1.03; 95% CI = 0.82-1.31). Increased risk was found for mucinous (RR 1.44; 95% CI = 1.03-2.01) and clear cell (RR 1.82; 95% CI = 1.11-2.99) ovarian cancer subtypes, but not for serous (RR1.12; 95% CI = 0.84-1.50;) and endometroid subtypes (RR1.24; 95% CI =0.96-1.60).
CONCLUSIONS
Obesity is associated with increased ovarian cancer risk. That relation is largely due to a positive association between adiposity and ovarian cancer among premenopausal but not postmenopausal women and among cases with mucinous and clear cell but not serous or endometrioid histology.
Topics: Female; Humans; Overweight; Risk Factors; Carcinoma, Ovarian Epithelial; Ovarian Neoplasms; Obesity
PubMed: 35384414
DOI: 10.1002/cnr2.1618