Risk Of Cancer In Patients Research Articles

Reduction in Gastrointestinal Cancers in Cirrhotic Patients Receiving Rifaximin vs Lactulose Only Therapy for Hepatic Encephalopathy.

Background Rifaximin and/or lactulose therapy is widely used in cirrhotic patients for the prevention and treatment of hepatic encephalopathy. The incidence of gastrointestinal cancers in these patients on lactulose, rifaximin, and/or combination therapy is unknown. We investigated the possible effect of lactulose and rifaximin on cancer risk in patients with cirrhosis using the MarketScan database. Methods A retrospective cohort study was conducted using the Truven Health MarketScan Commercial Claims databases from 2007-2017. An index date was defined for each participant as the earliest date of cirrhosis diagnosis. A baseline period for each participant was defined as the 12 months prior to the first medication date while the study follow-up period represented the period from the initiation of the medication to its cessation. ANOVA was used to compare all continuous measures of age and duration of medication. Wald Chi-square tests were performed to test the associations between the study groups. Results A total of 12,409 patients were included in our study. The rifaximin only cohort had the greatest reduction in risk of developing colon cancer, esophageal cancer, and stomach cancer compared to the other groups. Rifaximin reduced the risk of colon cancer and esophageal cancer by 59.42% and 70.37%, respectively, compared to patients taking lactulose only. Patients in the lactulose plus rifaximin cohort had the highest rate of development of pancreatic cancer (lactulose plus rifaximin vs rifaximin only vs lactulose only, 0.45% vs 0.24% vs 0.21%; P < 0.0001) and liver and intrahepatic bile duct cancers (11.73% vs 5.84% vs 5.49%; P < 0.0001). Conclusion Colon, esophageal, and gastric cancers had a marked incidence reduction in the rifaximin only cohort compared to the other cohorts studied.

A common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome.

Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is a common genetic predisposition to cancer due to germline mutations in genes affecting DNA mismatch repair. Due to mismatch repair deficiency, developing tumors are characterized by microsatellite instability (MSI-H), high frequency of expressed neoantigens and good clinical response to immune checkpoint inhibitors. Granzyme B (GrB) is the most abundant serine protease in the granules of cytotoxic T-cells and natural killer cells, mediating anti-tumor immunity. However, recent results confirm a diverse range of physiological functions of GrB including that in extracellular matrix remodelling, inflammation and fibrosis. In the present study, our aim was to investigate whether a frequent genetic variation of GZMB, the gene encoding GrB, constituted by three missense single nucleotide polymorphisms (rs2236338, rs11539752 and rs8192917) has any association with cancer risk in individuals with LS. In silico analysis and genotype calls from whole exome sequencing data in the Hungarian population confirmed that these SNPs are closely linked. Genotyping results of rs8192917 on a cohort of 145 individuals with LS demonstrated an association of the CC genotype with lower cancer risk. In silico prediction proposed likely GrB cleavage sites in a high proportion of shared neontigens in MSI-H tumors. Our results propose the CC genotype of rs8192917 as a potential disease-modifying genetic factor in LS.

Meta-analysis of cancer risk among end stage renal disease undergoing maintenance dialysis.

Currently, there is no consensus on whether maintenance dialysis increases cancer risk in patients with end-stage renal disease (ESRD). Therefore, this study was to systematically evaluate the risk of cancer among ESRD patients undergoing maintenance dialysis. Related studies on the impact of maintenance dialysis on cancer risk were retrieved from PubMed, Embase, Cochrane Library, and other databases from their respective inceptions to 19 February 2021. ESRD patients receiving maintenance dialysis were classified into cancer including non-melanoma skin cancer (NMSC) and cancer excluding NMSC. Standardized incidence ratio (SIR) with its 95% confidence interval (95% CI) was calculated to assess cancer risk. Fourteen studies were included in the meta-analysis. The risk of cancer in patients undergoing maintenance dialysis (with or without NMSC) was significantly higher than controls both in cancer including NMSC (SIR = 1.38, 95% CI: 1.27-1.49, P < 0.001) and cancer excluding NMSC (SIR = 1.34, 95% CI: 1.23-1.47, P < 0.001). Subgroup results identified the higher risk of cancer incidence in both men and women receiving maintenance dialysis. Meanwhile, elevated excess risks were observed among patients with younger age and shorter follow-up time (P < 0.001). Meanwhile, the combined SIR of bladder, cervix, colorectum, kidney, liver, thyroid, tongue, and other cancers were all increased (P < 0.05). ESRD patients undergoing dialysis has higher risk of cancer.

Association between tonsillectomy and oropharyngeal cancer risk: a retrospective cohort study.

The purpose of this retrospective cohort study is to describe the association between the history of tonsillectomy and the risk of oropharyngeal squamous cell carcinoma (OPSSC), using a large cohort of patients. We performed a retrospective cohort study with 3620 patients diagnosed with OPٍSCC from 2010 to 2021. We utilized the University of Florida patients' registry i2b2 system. Three subsets of OPSSC were defined, base of tongue(BOT) cancer, tonsillar cancer, and other OPSSC. Tumor demographics and history of tonsillectomy were collected. Odds ratio for OPSSC were assessed utilizing a logistic regression model with adjusting for gender, race, and age.P < 0.05 was deemed significant. Of the 3620 OPSSC patients were BOT cancer (N = 964), tonsillar cancer (N = 995), and other OPSSC (N = 1661). There was a statistically significant reduction in tonsillar cancer and BOT cancer odds ratio in patients with a history of tonsillectomy vs. patients without tonsillectomy(0.086 and 0.117), respectively, with a P value < .0001. The odds ratio of OPSSC in patients with a history of tonsillectomy vs. patients without tonsillectomyis 1.031. This study showed that the OPSSC and previous history of tonsillectomy are associated. Our results showed a significant reduction in BOT and tonsillar cancer risk in patients with a history of tonsillectomy and an insignificant decrease in other OPSSC. This study could emphasize the importance of the development of future clinical trials to investigate the role of prophylactic tonsillectomy as a secondary preventive strategy to reduce OPSSC.

Cumulative exposure and lifetime cancer risk from diagnostic radiation in patients undergoing orthognathic surgery: a cross-sectional analysis

Radiation doses in dentomaxillofacial imaging are typically very low. However, diagnostic and follow-up protocols in orthognathic surgery result in a patient-specific risk in effective dose. Estimating the cancer risks from these exposures remains abstract for many maxillofacial surgeons. In this study, 40 orthognathic patients were randomly sampled and their cumulative effective dose (ED) calculated. The lifetime attributable risk of cancer (LAR) was calculated based on the standard radiological protocol for orthognathic surgery follow-up using methods described in the BEIR VII report and RadRAT. The mean cumulative ED of the 40 sampled patients at the end of their 2-year follow-up period was 1.91 ± 0.58 mSv. The LAR at the end of follow-up was 17.65 (90% confidence interval 6.46–32.90) per 100,000 person-years for male orthognathic patients and 13.93 (90% confidence interval 6.27–25.24) per 100,000 person-years for female orthognathic patients. This represents 0.70% and 0.68%, respectively, of the baseline cancer risk for oral, thyroid, and brain cancer combined. Although theoretical, these results provide a framework for interpreting radiation doses and cancer risks in patients undergoing orthognathic surgery. Considering the increased radiation sensitivity in children and adolescents, indication-oriented and patient-specific imaging protocols should be advised.

Depression Is Associated with an Increased Risk of Subsequent Cancer Diagnosis: A Retrospective Cohort Study with 235,404 Patients.

Background: Depression and cancer share common risk factors and mechanisms of disease. The current literature has not explored the effect of depression on cancer risk. We assessed the difference in cancer risk in patients with and without depression in a large cohort in Germany. Methods: We compared cancer risk and incidence in patients with and without depression aged 18 or above diagnosed between 2015 and 2018 documented in the Disease Analyzer Database. Patients from a comparator group were matched 1:1 to patients with depression based on propensity scores. Patients with previous bipolar disorder (F31), mania (F30) or schizophrenia (F20-29) and cancer diagnosis 3 years prior to index date were excluded. Analyses were stratified by cancer type, age group, and gender. Results: A total of 117,702 patients with depression were included and matched 1:1, resulting in a cohort overall of 235,404. 4.9% of patients with depression compared to 4.1% without depression received at least one cancer diagnosis over 3.9 years median follow-up. The depression group showed an 18% increase in risk for a cancer diagnosis overall, with largest increased risk in lung cancer (HR: 1.39 [1.21-1.60], p < 0.0001), cancers of the gastro-intestinal-tract (HR: 1.30 [1.15-1.46], p < 0.0001), breast (HR: 1.23 [1.12-1.35], p < 0.0001) and urinary (HR: 1.23 [1.06-1.43], p < 0.01). Similarly, the incidence of cancer diagnosis overall increased by 22% for depressed patients. IRs showed no difference across cancer types. Conclusions: Depression increased the risk for cancer diagnosis consistently independent of the comparison method used. The potential mediating factors or shared mechanisms of the disease require further investigation.

Non-obese or lean non-alcoholic fatty liver disease was associated with increased risk of cancer in patients with type 2 diabetes mellitus

IntroductionRisk of non-obese or lean non-alcoholic fatty liver disease (NAFLD) for cancer in patients with type 2 diabetes mellitus (T2DM) is less known. We aimed to evaluate independent associations of...

Cancer Risk With Topical Pimecrolimus and Tacrolimus For Atopic Dermatitis: Systematic Review and Bayesian Meta-Analysis

Atopic dermatitis (AD) affects millions worldwide and is effectively managed by topical treatments, including the topical calcineurin inhibitors (TCIs), pimecrolimus and tacrolimus. In 2005 and 2011, the FDA released reviews associating TCIs with theoretical cancer risk, albeit uncertain. We systematically reviewed the cancer risk in patients with AD exposed to TCIs.

Risk of gastric cancer among patients with newly diagnosed ulcerative colitis: A nationwide population-based study.

471 Background: We aimed to assess gastric cancer risk in patients with newly diagnosed ulcerative colitis (UC). Methods: Based on claims data of the Korean National Health Insurance from January 2006 to December 2015, we identified 30,546 patients with UC and randomly selected 88,829 age- and sex-matched non-UC individuals (controls). Hazard ratios (HRs) adjusted for covariates were calculated using multivariate Cox proportional-hazards regression. Results: Overall, 77 (0.25%) patients with UC and 383 (0.43%) non-UC individuals developed gastric cancer during the period. HR of UC was 0.60 (95% CI: 0.47–0.77) for gastric cancer, compared to non-UC individuals. When stratified according to age and sex, HRs in 20-39, 40-59, and ≥ 60 years of age at diagnosis of UC were 0.19 (95% CI: 0.04–0.98), 0.65 (95% CI: 0.45–0.94), and 0.60 (95% CI: 0.49–0.80), and HR of male UC patients was 0.54 (95% CI: 0.41–0.73) for gastric cancer. However, among UC patients, multivariable analysis revealed that HR in ≥ 60 years of age at diagnosis of UC were 12.34 (95% CI: 2.23-68.16), consistent with old age as a risk factor of gastric cancer in general population. Conclusions: Patients with UC had a decreased gastric cancer risk compared with non-UC individuals. Further research is needed to elucidate the reason.

Risk of Cancer in Patients with Inflammatory Bowel Diseases and Keys for Patient Management.

Chronic inflammation in patients with Inflammatory Bowel Disease (IBD) leads to an increased risk of colorectal cancer, small bowel cancer, intestinal lymphoma and cholangiocarcinoma. However, treatments for IBD have also been associated with an increased risk of neoplasms. Patients receiving Thiopurines (TPs) have an increased risk of hematologic malignancies, non-melanoma skin cancer, urinary tract neoplasms and cervical cancer. Anti-TNFs have been associated with a higher risk of neoplasms, mainly lymphomas and melanomas; however, the data are controversial, and some recent studies do not confirm the association. Nevertheless, other biologic agents, such as ustekinumab and vedolizumab, have not shown an increased risk of any neoplasm to date. The risk of malignancies with tofacitinib exists, but its magnitude and relationship with previous treatment with TPs is not defined, so more studies from daily clinical practice are needed. Although biologic therapy seems to be safe for patients with current cancer or a prior history of cancer, as has been demonstrated in other chronic inflammatory conditions, prospective studies in this specific population are needed. Until that time, it is crucial to manage such conditions via the combined clinical expertise of the gastroenterologist and oncologist.

321 Cancer risk with topical pimecrolimus and tacrolimus for atopic dermatitis: systematic review and Bayesian meta-analysis

Abstract Atopic dermatitis affects millions worldwide and is effectively managed by topical treatments, including topical calcineurin inhibitors, pimecrolimus and tacrolimus. In 2005 and 2011, the FDA released reviews associating topical calcineurin inhibitors with a theoretical cancer risk, albeit an uncertain association. We systematically reviewed the risk of cancer in patients with atopic dermatitis exposed to topical calcineurin inhibitors. We systematically identified randomized controlled trials, comparative, and non-comparative non-randomized studies from database inception to 6 June 2022, from MEDLINE, EMBASE, GREAT, LILACS, ICTRP, FDA, EMA, company registers and relevant citations. We included studies in any language addressing the risk of cancer in patients with atopic dermatitis exposed to topical calcineurin inhibitors for greater than 3 weeks. We excluded split-body studies. We conducted a Bayesian meta-analysis and used the GRADE approach to determine the certainty of the evidence. A multidisciplinary panel including patients, advocacy groups and care providers, set an a priori threshold of 1 in 1000 risk difference as a clinically important effect. We analysed 121 studies (52 randomized controlled trials and 69 non-randomized studies) including 3.4 million patents followed for a mean of 11 months (range: 0.7–120). The absolute risk of any cancer with topical calcineurin inhibitor exposure was neither different from controls (absolute risk 4.70 per 1000 with topical calcineurin inhibitor exposure vs. 4.56 per 1000 without; odds ratio 1.03 [95% credible interval 0.94–1.11], moderate-certainty evidence) nor the general US population (4.6 per 1000). Findings were similar in infants, children, and adults, and were robust to trial sequential, subgroup and sensitivity analyses. Among infants, children and adults with atopic dermatitis, moderate-certainty evidence shows that topical calcineurin inhibitors do not increase the risk of cancer. These findings support the safe use of topical calcineurin inhibitors in the management of patients with atopic dermatitis. Our findings provide actional information to inform updated clinical practice guidelines, product labels and continuing education for care providers, to clarify the safe usage of topical calcineurin inhibitors.

Metformin and Cervical Cancer Risk in Patients with Newly Diagnosed Type 2 Diabetes: A Population-Based Study in Korea.

Metformin and Cervical Cancer Risk in Patients with Newly Diagnosed Type 2 Diabetes: A Population-Based Study in Korea.

Impact of thyroid cancer on the cancer risk in patients with non-alcoholic fatty liver disease or dyslipidemia

The raised prevalence of obesity has increased the incidence of obesity-related metabolic diseases such as dyslipidemia (DL) and non-alcoholic fatty liver disease (NAFLD), along with the development and progression of various types of cancer, including thyroid cancer. In this study, we investigated whether thyroid cancer in patients with DL and NAFLD could be a risk factor for other cancers. To achieve our goal, we generated two independent cohorts from our institution and from the National Health Insurance System in South Korea. Based on the ICD-10 code, we conducted exact matching (1:5 matching) and estimated the overall risk of thyroid cancer for other cancers in patients with DL or NAFLD. Univariate and multivariate analyses showed that the hazard ratio (HR) of thyroid cancer was 2.007 (95% Confidence Interval [CI], 1.597–2.522) and 2.092 (95% CI, 1.546–2.829), respectively in the institutional cohort and 1.329 (95% CI, 1.153–1.533) and 1.301 (95% CI, 1.115–1.517), respectively in the nationwide cohort. Risk analysis revealed a significant increase in the HR in lip, tongue, mouth, lung, bone, joint, soft tissue, skin, brain, male cancers and lymphoma after thyroid cancer occurred. Thyroid cancer in patients with DL or NAFLD might be a valuable factor for predicting the development of other cancers.

Estimation of organ-specific cancer and mortality risks associated with common indication-specific CT examinations of the abdominopelvic region

IntroductionThere is a paucity of large-scale studies reporting organ doses and cancer risks in patients who undergo indication-specific CT examinations. This study estimated organ-specific lifetime attributable risk (LAR) of cancer incidence and mortality among patients who underwent indication-based computed tomography (CT) examinations [(involving abdominopelvic lesion, kidney stones and computed tomography-intravenous urography (CT-IVU)] in about 70% of the functioning CT facilities in Ghana. MethodsWith a total of 1,100 data sets, organ doses were first determined using the National Cancer Institute Dosimetry System for CT (NCICTX) software version 2.1, and LAR values were predicted using the BEIR VII model. ResultsThe estimated radiation-induced colon cancer risks were likely in 39.4-59.8 out of 100,000 patients who underwent CT because of abdominopelvic lesion. The risk was even higher in CT-IVU examinations (53.3-66.4 patients in 100,000 procedures) but was relatively less (16.8-26.3 patients) in kidney stone procedures. Accordingly, the risk of radiation-induced colon mortality was more common in CT-IVU than in kidney stone procedures (22.7-28.2 versus 7.2-12.5 patients in 100,000 procedures). ConclusionThese results call for further optimisation actions for indication-specific CT examinations to appropriately reduce the potential risk levels for patients’ protection and safety.

Reducing relapse through maintenance steroid treatment can decrease the cancer risk in patients with IgG4-sclerosing cholangitis: Based on a Japanese nationwide study.

IgG4-related sclerosing cholangitis (IgG4-SC) is recognized as a benign steroid-responsive disease; however, little is known about the risk of development of cancer in patients with IgG4-SC and about how to counter this risk. We conducted a retrospective review of the data of 924 patients with IgG4-SC selected from a Japanese nationwide survey. The incidence, type of malignancy, and risk of malignancy in these patients were examined. Then, the standardized incidence ratio (SIR) of cancer in patients with IgG4-SC was calculated. Relapse was recognized in 19.7% (182/924) of patients, and cancer development was noted in 15% (139/924) of patients. Multivariate analysis identified only relapse as an independent risk factor for the development of cancer. In most of these patients with pancreato-biliary cancer, the cancer developed within 8years after the diagnosis of IgG4-SC. The SIR for cancer after the diagnosis of IgG4-SC was 12.68 (95% confidence interval [CI] 6.89-8.79). The SIRs of cancers involving the biliary system and pancreas were 27.35 and 18.43, respectively. The cumulative survival rate was significantly better in the group that received maintenance steroid treatment (MST) than in the group that did not; thus, MST influenced the prognosis of these patients. Among the cancers, the risk of pancreatic and biliary cancers is the highest in these patients. Because of the elevated cancer risk, surveillance after the diagnosis and management to prevent relapse are important in patients with IgG4-SC to reduce the risk of development of cancer.

The Risk of Lymphoproliferative Disorders and Skin Cancers in Patients with Psoriasis and Inflammatory Bowel Disease Administered Biologics

Few large population‐based studies have investigated the effects of biologic agents on the risks of lymphoproliferative disorders (LPDs) and skin cancers in patients with psoriasis and inflammatory bowel disease (IBD). The objective of this study is to determine the effects of biologic agents on the risk of LPDs and skin cancers in South Korean patients with psoriasis and IBD. The Korean Health Insurance Review and Assessment Service database was reviewed, and patients newly diagnosed with psoriasis or IBD between 2008 and 2019 were included. The effects of exposure to biologics on the risk of cancer were assessed using multivariable Cox regression models. The study included 191,678 patients with psoriasis, 23,640 with Crohn’s disease (CD), and 66,730 with ulcerative colitis (UC). The tumor necrosis factor (TNF)‐α inhibitor was associated with increased risks of overall lymphoma (adjusted hazard ratio (aHR), 2.93; 95% confidence interval (CI), 1.01–8.50), non‐Hodgkin lymphoma (NHL) (aHR, 2.98; 95% CI, 1.02–8.69), and cutaneous lymphoma (aHR, 3.46; 95% CI, 1.07–11.21) in patients with psoriasis. TNF‐α inhibitor exposure was associated with increased risks of overall lymphoma (aHR, 3.70; 95% CI, 1.81–7.55) and NHL (aHR, 3.72; 95% CI, 1.81–7.62) in patients with CD, whereas it did not increase the risks of cancer in patients with UC. In conclusion, treatment with TNF‐α inhibitors can increase the risks of LPDs in patients with psoriasis or CD.

Prevalence of Cancer in Patients with Venous Thromboembolism: A Retrospective Nationwide Case-Control Study in Sweden.

Cancer is a risk factor for venous thromboembolism (VTE). We aimed to define sex-specific risk of preceding cancer in patients with a first-time VTE by conducting a nationwide Swedish registry-based study including 298 172 patients with VTE and 1 185 079 matched controls. This included 44 685 patients with a diagnosis of cancer at/or within 1 year before a VTE diagnosis. Female patients with VTE had a higher multivariable adjusted odds ratios of preceding cancer than male patients with VTE (5.5 [99% confidence interval 5.4-5.7] vs 3.9 [3.8-4.0]). The highest risk of cancer in patients with VTE were found for pancreatic cancer (women: 19.6 [15.8-24.4]; men: 17.2 [13.7-21.6]) and brain cancer (women: 17.4 [12.9-23.4]; men: 17.5 [13.8-22.2]). Weak associations were seen between VTE and bladder/urothelial cancer (women: 1.31 [1.12-1.53]; men: 1.34 [1.23-1.47]), prostate cancer (men: 2.17 [2.07-2.27]), malignant melanoma (women: 2.51 [2.07-3.05]; men: 2.67 [2.23-3.18]), and kidney cancer (women: 3.20 [2.49-4.11]; men: 3.33 [2.79-4.07]). In conclusion, associations with VTE were weak for bladder/urothelial cancer and kidney cancer, and strong for pancreatic, brain, and biliary cancers.

Impact of changing diagnostic criteria on the diagnosis of serrated polyposis syndrome

Background and study aims The World Health Organization criteria for serrated polyposis syndrome (SPS) were established in 2010 and modified in 2019. Neither set of criteria have been validated against genetic markers or proven to be the optimal criteria for defining colorectal cancer risk in patients with serrated colorectal lesions. In this study, we sought to gain insight into how frequently the change in SPS criteria in 2019 impacted the diagnosis of SPS. Patients and methods We reviewed 279 patients with SPS diagnosed between 2010 and 2019 using the 2010 criteria (n = 163) or since 2019 using the 2019 criteria (n = 116). We reviewed whether patients in each group met the diagnosis of SPS by the alternative criteria. Results Of those diagnosed using 2010 criteria, 5.5 % did not meet 2019 criteria. Of those diagnosed by 2019 criteria, 10.3 % did not meet 2010 criteria. Conclusions Most patients with SPS in our database met the diagnosis of SPS by both 2010 and 2019 criteria, with only 5 % to 10 % of patients in each cohort not meeting the alternative diagnostic criteria.

Cancer risk and mortality in multiple sclerosis: The need for vigilance

Several investigators have addressed the possibility of a link between cancer and multiple sclerosis (MS). The consensus view favours an increased risk, but analysis is compromised by multiple confounders, including small sample sizes, age and socio-economic group of the population in question, level of education and whether a cancer diagnosis was based on the less reliable death certificates compared to cancer registries. Coupled with this is the problem of subsequent cancer-related mortality in those with MS compared to those without MS. Until 1996 patients were treated chiefly with steroids, azathioprine, cyclophosphamide and occasionally mitoxantrone. Each of these has its own potential long-term risk of cancer probably least of all with steroids. Mitoxantrone has a small but definite risk of acute myeloid leukaemia particularly if patients are exposed to more than 60mg/M2 ( Lebrun and Rocher, 2018 Lebrun C Rocher F. Cancer risk in patients with multiple sclerosis: potential impact of disease-modifying drugs. CNS drugs. 2018; 32 (Oct): 939-949 Google Scholar ). Azathioprine is connected with a particularly high rate of non-Hodgkin lymphoma in renal transplant cases ( Kinlen, 1992 Kinlen L. Immunosuppressive therapy and acquired immunological disorders. Cancer research. 1992; 52 (Oct 1): 5474s-5476s Google Scholar ) but this has not been found for large studies in MS that had a follow-up range of <10 years and a total dose exposure of no more than 600g ( Casetta et al., 2007 Casetta I Iuliano G Filippini G. Azathioprine for multiple sclerosis. Cochrane Database of Systematic Reviews. 2007; Google Scholar ).

Coffin-Siris syndrome and cancer susceptibility

Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor suppressors, the cancer risk in patients with CSS remains unclear. We analyzed cancer sequencing data sets, conducted a comprehensive literature review of patients with CSS diagnosed with malignancies, and examined a cohort of 376 CSS registry patients to estimate cancer frequency. A review of the literature identified several reports of patients with CSS diagnosed with a malignancy, with ARID1A being the most frequent causative gene and associated with hepatoblastoma in 3 cases. Although no cases of malignancy were reported among the patients in the CSS registry, only 26 patients with ARID1A-CSS were available for analysis. Combining these patients with all cases reported in the literature led to the estimate of hepatoblastoma prevalence in ARID1A-CSS of 3.6% (95% CI 0.79%-10.4%). Our findings suggest the hepatoblastoma risk among patients with ARID1A-CSS may exceed the established 1% risk threshold and therefore warrant surveillance. There remains insufficient evidence to support any other CSS gene-cancer association, emphasizing the need for further systematic study.