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BACKGROUND: Prophylactic surgery for familial adenomatous polyposis has evolved over several decades. Restorative proctocolectomy with IPAA provides an alternative to total abdominal colectomy with ileorectal anastomosis. We have previously shown that the rate of proctectomy and rectal cancer after total abdominal colectomy with ileorectal anastomosis in the "pre-pouch era" was 32% and 13%, respectively. OBJECTIVE: To determine the rate of proctectomy and rectal cancer among familial adenomatous polyposis patients and relative rectal sparing (fewer than 20 rectal polyps) selected for total abdominal colectomy with ileorectal anastomosis in the modern era. DESIGN: Retrospective cohort study. SETTING: Single tertiary care institution with a hereditary colorectal cancer registry. PATIENTS: Patients with familial adenomatous polyposis who underwent total abdominal colectomy with ileorectal anastomosis between 1993 and 2020. MAIN OUTCOME MEASURES: Incidence of proctectomy for any indication and rectal cancer. RESULTS: A total of 197 patients with a median age of 24 years (range, 10-67) were included. The median follow-up after total abdominal colectomy with ileorectal anastomosis was 13 years (interquartile range, 6-17). Sixteen patients (8%) underwent proctectomy. Indications included rectal cancer in 6 patients (3%; 2 stage I and 4 stage III), polyps with high-grade dysplasia in 4 (2%), progressive polyp burden in 3 (1.5%), defecatory dysfunction in 2 (1%), and anastomotic leak in 1 (0.5%). Among 30 patients (18%) with 20 or more rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis, 8 patients (26%) underwent proctectomy and 3 patients developed rectal cancer (10%). Among 134 patients (82%) with fewer than 20 polyps, 8 patients (6%) underwent proctectomy and 3 patients developed rectal cancer (2%). Number of rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis was associated with the likelihood of proctectomy (OR 1.1, p < 0.001) but not incident rectal cancer ( p = 0.3). LIMITATION: Retrospective data collection. CONCLUSIONS: Patients with familial adenomatous polyposis selected for total abdominal colectomy with ileorectal anastomosis by rectal polyp number have low rates of proctectomy and rectal cancer compared to historical controls. With appropriate selection criteria and surveillance, total abdominal colectomy with ileorectal anastomosis remains an important and safe treatment option for patients with familial adenomatous polyposis. See Video Abstract . RIESGO DE PROCTECTOMA DESPUS DE ANASTOMOSIS ILEORRECTAL EN POLIPOSIS ADENOMATOSA FAMILIAR EN LA ERA MODERNA: ANTECEDENTES:La cirugía profiláctica para la poliposis adenomatosa familiar (PAF) ha evolucionado durante varias décadas. La proctocolectomía restauradora con anastomosis anal con bolsa ileal (IPAA) proporciona una alternativa a la colectomía abdominal total con anastomosis ileorrectal (TAC/IRA). Anteriormente hemos demostrado que la tasa de proctectomía y cáncer de recto después de TAC/IRA en la era "pre-bolsa" era del 32% y el 13%, respectivamente.OBJETIVO:Determinar la tasa de proctectomía y cáncer de recto entre pacientes con PAF y pacientes con preservación rectal relativa (<20 pólipos rectales) seleccionados para TAC/IRA en la era moderna.DISEÑO:Estudio de cohorte retrospectivo.ÁMBITO:Institución única de atención terciaria con un registro de cáncer colorrectal hereditario.PACIENTES:Pacientes con PAF que se sometieron a TAC/IRA entre 1993 y 2020.MEDIDAS DE RESULTADO PRINCIPALES:Incidencia de proctectomía por cualquier indicación y cáncer de recto.RESULTADOS:Se incluyeron 197 pacientes con una mediana de edad de 24 años (rango 10-67). La mediana de seguimiento tras TAC/IRA fue de 13 años (RIC 6-17). 16 pacientes (8%) fueron sometidos a proctectomía. Las indicaciones incluyeron cáncer de recto en 6 (3%) (2 en estadio I y 4 en estadio III); pólipos con displasia de alto grado en 4 (2%); carga progresiva de pólipos en 3 (1,5%), disfunción defecatoria en 2 (1%); y fuga anastomótica en 1 (0,5%). Entre 30 pacientes (18%) con ≥20 pólipos rectales en el momento de TAC/IRA, 8 pacientes (26%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (10%). Entre 134 pacientes (82%) con <20 pólipos, 8 pacientes (6%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (2%). El número de pólipos rectales en el momento de TAC/IRA se asoció con la probabilidad de proctectomía (OR 1,1, p <0,001), pero no con la incidencia de cáncer de recto (p = 0,3).LIMITACIÓN:Recopilación de datos retrospectivos.CONCLUSIÓN:Los pacientes con PAF seleccionados para TAC/IRA por el número de pólipos rectales tienen tasas bajas de proctectomía y cáncer de recto en comparación con los controles históricos. Con criterios de selección y vigilancia adecuados, TAC/IRA sigue siendo una opción de tratamiento importante y segura para los pacientes con PAF. (Pre-proofed version ).
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Poliposis Adenomatosa del Colon , Proctectomía , Neoplasias del Recto , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Anastomosis Quirúrgica , Neoplasias del Recto/cirugía , Neoplasias del Recto/complicaciones , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/complicacionesRESUMEN
BACKGROUND: Colorectal cancer (CRC) is rising in young adults between ages 20 to 49 years. CRC screening is endorsed for average-risk individuals beginning at ages 45 to 49 years. Targeting screening for individuals <45 years may be warranted if risk factors for advanced neoplasia can be identified. AIM: To identify factors associated with advanced colorectal neoplasia in adults aged <45 years. METHOD: Individuals ages 18 to 44 years who underwent colonoscopy at Cleveland Clinic between 2011 and 2021 with ≥1 advanced neoplasm (AN) were included. Patients with inflammatory bowel disease or inherited CRC syndromes were excluded. Demographics, comorbidities, family history of CRC, and colonoscopy indication were obtained. Patients with a normal colonoscopy constituted the control group. A multivariable logistic regression model was used to investigate the relationship between clinical variables and the presence of advanced colorectal neoplasia. RESULTS: In all, 13,006 patients were included, of which 651 (5%) patients had AN: 404 (62%) with tubular adenoma ≥10 mm, 29 (4.5%) tubular adenoma with high-grade dysplasia, 210 (32%) tubulovillous adenomas, 27 (4%) traditional serrated adenomas, 82 (13%) sessile serrated lesions ≥10 mm, 7(2%) sessile serrated lesions with dysplasia, and 29 (4.4%) patients had a CRC. Factors associated with AN were older age (means 38.5 vs. 36.6 y), history of smoking, diabetes, non-White race, higher body mass index (29.9 vs. 28.5 kg/m2), and lower vitamin D (27.6 vs. 32.2 ng/dl), all P<0.001. In the reduced multivariable model, factors associated with AN included tobacco use (OR 2.026 (current vs. never, P<0.0001), age (OR increase by 1.06 per year, P<0.0001), male gender (OR 1.476, P<0.0001), family history of CRC (OR 3.91, P<0.0001), aspirin use (1.31, P=0.035), and diabetes (OR 2.106, P 0.001). CONCLUSION: Increasing age, male gender, exposure to tobacco, family history of CRC, diabetes, and aspirin use were independently associated with advanced neoplasia in adults younger than 45. Targeted early screening to young adults with these risk factors may be justified. Large collaborative prospective studies are needed to validate our findings.
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BACKGROUND AND AIMS: The true rate of gastric cancer (GC) in juvenile polyposis syndrome (JPS) is unknown because of its rarity and ascertainment bias in published literature. To better assess this, we conducted a systematic review and meta-analysis. METHODS: MEDLINE, Embase, and Scopus databases were searched for the key words juvenile polyposis syndrome, juvenile polyps, stomach cancer, GC, SMAD4, BMPR1A, hamartomatous polyposis syndrome, hamartomas, and hereditary cancers for studies reporting upper GI manifestations in JPS. The primary outcome was the reported occurrence of GC in JPS. We then compared GC occurrence based on the presence or absence of pathogenic germline variants (PGVs) and in untested patients. RESULTS: Eleven studies including 637 patients were included. The pooled occurrence of GC was 3.5% (95% confidence interval [CI], 1.8-5.2; I2 = 12.3%) at a median age of 42.5 years (range, 15-57.6). The pooled occurrence of GC in patients with SMAD4 PGV was 10.1% (95% CI, 3.2-16.8%; I2 = 54.7%). GC was reported in only 1 BMPR1A PGV carrier and was not reported in patients without an identifiable PGV. In patients with prior germline testing, the risk of GC was higher in SMAD4 PGV carriers (odds ratio, 11.6; 95% CI, 4.6-29.4; I2 = 18.3%) compared with patients without SMAD4 PGV. In JPS patients with unknown status of germline testing, pooled occurrence of GC was 7.5% (95% CI, 0-15.5). There was an overall moderate risk of bias in the studies. CONCLUSIONS: GC is highest in SMAD4-associated JPS and was not reported in patients without identifiable PGVs. The value of GC surveillance in BMPR1A PGV carriers and JPS patients without an identifiable PGV is questionable. Germline testing should be performed in all JPS patients to inform GC risk discussion and utility of surveillance.
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Hamartoma , Poliposis Intestinal , Síndromes Neoplásicos Hereditarios , Neoplasias Gástricas , Humanos , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Neoplasias Gástricas/epidemiología , Neoplasias Gástricas/genética , Poliposis Intestinal/complicaciones , Poliposis Intestinal/genética , Síndromes Neoplásicos Hereditarios/epidemiología , Mutación de Línea Germinal , Pólipos Intestinales , Proteína Smad4/genéticaRESUMEN
BACKGROUND AND AIMS: Colonoscopy quality affects colorectal cancer (CRC) incidence and mortality. The U.S. Multi-Society Task Force on Colorectal Cancer strongly recommends photodocumentation (PD) of lesions ≥10 mm in size (ie, large polyps [LPs]) pre-resection and suggests PD postresection to enhance the quality of colonoscopy. No studies have assessed the frequency of LP PD. We evaluated the frequency of and factors associated with PD of LPs. METHODS: Reports from endoscopists performing ≥50 colonoscopies with LP resection between 2016 and 2021 were reviewed. The frequency of LP PD pre-resection and post-resection and factors associated with PD were collected. A composite score of 2 quality metrics (PD of completeness of examination and bowel preparation quality) was created. Endoscopists were divided into 2 tiers based on the frequency of the score on all included examinations: Tier 1, ≥95% of examinations; and Tier 2, <95% of examinations. Univariate and multivariate analyses were used to assess factors associated with PD. RESULTS: A total of 1322 colonoscopies, 1693 LPs, and 25 endoscopists were included in this study. PD of LPs occurred in 1392 (82%) pre-resection and in 878 (52%) post-resection. Factors associated with pre-resection PD include endoscopist subspecialty (colorectal surgery vs gastroenterology: odds ratio [OR], .12; 95% confidence interval [CI], .04-.42); >1 LP on examination (2 vs 1 LP: OR, .41 [95% CI, .27-.61]; and ≥3 vs 1 LP: OR, .41 [95% CI, .24-.70]), and longer withdrawal time (OR, 1.02; 95% CI, 1.01-1.04). CONCLUSIONS: We provide the first data on PD of LP pre-resection and post-resection, which can inform future benchmarking in this area. The implications of PD on metachronous advanced neoplasia need to be studied.
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BACKGROUND: The incidence of early-onset colorectal cancer (EOCRC) is rapidly increasing. Pathogenic germline variants (PGVs) are detected in 16% to 20% of patients who have EOCRC, highlighting a need for genetic counseling (GC) and multigene panel testing in these patients. We aimed to determine the rate of referral to GC and uptake and outcomes of germline testing in patients with EOCRC. METHODS: We conducted a retrospective cohort study of patients aged <50 years diagnosed with colorectal cancer (CRC) from 2010 to 2019 at Cleveland Clinic. Demographic data were extracted, including age, sex, self-reported race, and family history of CRC. The proportions of patients with GC referral and completion of GC and genetic testing were investigated, and genetic testing results were analyzed. Multivariable logistic regression analysis was conducted to identify factors independently associated with GC referral and uptake. RESULTS: A total of 791 patients with EOCRC (57% male and 43% female) were included; 62% were referred for GC, and of those who were referred, 79% completed a GC appointment and 77% underwent genetic testing. Of those who underwent testing, 21% had a PGV detected; 82% were in known CRC-associated genes, with those associated with Lynch syndrome and familial adenomatous polyposis the most common, and 11% were in other actionable genes. Referral to GC was positively associated with family history of CRC (odds ratio [OR], 2.11; 95% CI, 1.51-2.96) and more recent year of diagnosis (2010-2013 vs 2017-2019; OR, 5.36; 95% CI, 3.59-8.01) but negatively associated with older age at diagnosis (OR, 0.89; 95% CI, 0.86-0.92). CONCLUSIONS: Referral to GC for patients with EOCRC is increasing over time; however, even in recent years, almost 25% of patients were not referred for GC. We found that 1 in 5 patients with EOCRC carry actionable PGVs, highlighting the need for health systems to implement care pathways to optimize GC referral and testing in all patients with EOCRC.
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Neoplasias Colorrectales , Asesoramiento Genético , Humanos , Masculino , Femenino , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/genética , Estudios Retrospectivos , Pruebas Genéticas/métodos , Derivación y ConsultaRESUMEN
While many organizations have published guidance on the approach to colorectal cancer (CRC) screening in average-risk and certain high-risk groups, adult survivors of childhood cancer (ASCC) who have a heightened risk of CRC are rarely included as a target group for enhanced CRC surveillance. The population of ASCC continues to grow due to increasingly effective cancer therapies and improved survival. With this increased survival comes an increased risk for subsequent malignant neoplasms, including CRC. Since there is little published guidance for CRC surveillance in ASCC and limited awareness of increased CRC risk among both physicians and patients, the objectives of our paper are to review the incidence of and risk factors for colorectal neoplasia in ASCC, describe the clinical phenotypes of colorectal neoplasia in ASCC, review published surveillance strategies based on consensus-based survivorship guidelines, and outline areas for future research to optimize surveillance strategies.
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Supervivientes de Cáncer , Neoplasias Colorrectales , Humanos , Niño , Sobrevivientes , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/etiología , Factores de Riesgo , Incidencia , ColonoscopíaRESUMEN
BACKGROUND: Colonic polyposis of unknown etiology (CPUE) is defined as ≥10 cumulative colonic adenomas without a detectable germline pathogenic variant. Surveillance for patients with >100 adenomas is recommended, similar to patients with familial adenomatous polyposis. The utility of extra-colonic screening in patients with 10 to <100 adenomas is not well established. METHODS: All CPUE patients seen at our center between 2003 and 2022 were included. Patients were categorized based on the range of cumulative colorectal adenoma count: 10 to 19, 20 to 99, and ≥100. RESULTS: In all, 150 patients were identified of which 20(13.3%) had 10 to 19 cumulative adenomas, 79(52.7%) had 20 to 99 adenomas, and 51(34.0%) had ≥100 adenomas. Compared with patients with 10 to 19 and 20 to 99, patients with ≥100 adenomas were younger (mean 51 vs. 52 vs. 42 y, respectively). Of patients who underwent esophagogastroduodenoscopy, duodenal adenomas were found in 33.3%, 10.1%, and 38% in the 3 groups, respectively, P=0.002. Ampullary adenomas were significantly more common in the ≥100 adenoma group (14.8%, P=0.019) compared with 8.3% and 2.9% in the 10 to 19 and 20 to 99 groups, respectively. Thyroid nodules ≥1 cm were not detected in patients with 10 to 19 adenomas but were found in 23.3% and 14.3% of patients with 20 to 99 and ≥100 adenomas, respectively (P=0.254). CONCLUSION: In our cohort, duodenal and gastric adenomas occurred in CPUE patients with adenoma count 10 to ≥100 at a relatively high proportion. We recommend a baseline esophagogastroduodenoscopy in all patients with CPUE. While clinically significant thyroid nodules were not detected in patients with 10 to 19 adenomas, they occurred in about one-fifth of the patients with ≥20 adenomas, indicating that thyroid ultrasound is prudent.
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BACKGROUND AND AIMS: Ampullary adenomas (AAs), common in familial adenomatous polyposis (FAP), are precursors to ampullary carcinoma. We assessed the natural history of AAs and factors associated with clinically significant progression (CSP). METHODS: Consecutive FAP patients with AAs and at least 2 EGDs were identified from a hereditary GI cancer registry. We assessed the incidence of CSP (increase in size to ≥10 mm and/or development of advanced histology) of AAs. Clinical, endoscopic, and pathologic features between patients with CSP and nonprogressors were compared. RESULTS: One hundred forty-three patients with AAs were included. Over a median follow-up of 7.8 years (interquartile range, 4.3-11.1), 41 patients (28.6%) developed CSP for an incidence of 35 per 1000 patient-years. Of 143 patients, 22 (15.6%) progressed to AAs ≥10 mm, 12 (8.5%) progressed to advanced histology, and 7 (4.9%) progressed both in size and histology. Two patients (1.4%) developed ampullary cancer. Male gender, abnormal appearance of the papilla at initial AA detection, prior cholecystectomy, and personal history of extracolonic malignancy were associated with CSP. Neither Spigelman stage nor the adenomatous polyposis coli gene pathogenic variants were associated with CSP. An intervention specifically for AA and not duodenal polyposis was performed in 24% of patients with AAs, including endoscopic papillectomy in 23 patients and duodenectomy in 3 patients at a median observation of 8.2 years. CONCLUSIONS: Most FAP patients with AAs did not experience CSP or require resection over 8 years of surveillance. Ampullary cancer was rare. Male gender, abnormal appearance of the papilla at AA detection, cholecystectomy, and history of extracolonic malignancy were associated with CSP. Our findings favor endoscopic surveillance of AAs over expedited resection for most patients with FAP.
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Poliposis Adenomatosa del Colon , Ampolla Hepatopancreática , Neoplasias del Conducto Colédoco , Neoplasias Duodenales , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/epidemiología , Poliposis Adenomatosa del Colon/cirugía , Ampolla Hepatopancreática/patología , Neoplasias del Conducto Colédoco/complicaciones , Neoplasias del Conducto Colédoco/epidemiología , Neoplasias del Conducto Colédoco/cirugía , Neoplasias Duodenales/diagnóstico , Neoplasias Duodenales/epidemiología , Neoplasias Duodenales/cirugía , Estudios de Seguimiento , Humanos , MasculinoAsunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis , Neoplasias Gástricas , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Endoscopía del Sistema Digestivo , Humanos , Proteína 2 Homóloga a MutS , Factores de Riesgo , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiologíaRESUMEN
BACKGROUND: Surveillance colonoscopy is recommended for patients with serrated polyps, but the risk of metachronous polyps is not well established. OBJECTIVE: The aim of this study was to determine the risk of metachronous polyps in patients with serrated polyps and assess the relationship of coexistent adenomas in polyp recurrence. DESIGN AND SETTING: This prospective cohort study was conducted in a single tertiary center in the United States. PATIENTS: Patients were included if they had a hyperplastic polyp ≥10 mm a sessile serrated polyp or a traditional serrated adenoma with or without coexistent adenomas, or only adenomas at baseline colonoscopy MAIN OUTCOME MEASUREMENTS: : The cumulative incidence of advanced adenomas and advanced serrated polyps was the primary outcome measured. RESULTS: The incidence of metachronous advanced adenomas was highest in patients with baseline advanced adenoma (40%) and 10% in those with serrated polyps only. The coexistence of serrated polyps and adenomas did not increase the risk of metachronous advanced adenoma (27% in serrated polyps + advanced adenoma and 7% in serrated polyps + nonadvanced adenoma). Metachronous serrated polyps ≥10 mm were seen exclusively in patients with baseline serrated polyps (serrated polyps only, 7%; serrated polyps + nonadvanced adenoma, 11%; serrated polyps +advanced adenoma, 9%) and not in patients with only adenomas at baseline. LIMITATION: The small cohort and the data collected retrospectively were limitations of this study. CONCLUSIONS: Patients with baseline large hyperplastic polyps, sessile serrated polyps with or without dysplasia, or traditional serrated adenoma have a low risk of metachronous advanced adenoma, but were the sole group with recurrent large serrated polyps. No effect of coexistent serrated polyps and adenomas was seen for the recurrence of advanced adenoma.
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Adenoma/epidemiología , Neoplasias del Colon/epidemiología , Pólipos del Colon/epidemiología , Neoplasias Primarias Secundarias/epidemiología , Adenoma/diagnóstico , Anciano , Estudios de Cohortes , Neoplasias del Colon/diagnóstico , Pólipos del Colon/diagnóstico , Colonoscopía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , RiesgoRESUMEN
Colorectal cancer (CRC) is a leading cause of cancer and cancer deaths in the Western world. Approximately 5-10% of CRC are hereditary, due to a defined genetic cause. Individuals and families affected with a hereditary CRC syndrome exhibit benign and malignant extra-intestinal tumors, require aggressive cancer screening and benefit from management by a multi-disciplinary team of professionals. The clinical manifestations, genetic causes and current management of patients with hereditary colon cancer syndrome is provided.
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Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/genética , Pruebas Genéticas , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/genética , HumanosRESUMEN
The majority of patients with colorectal polyps and cancer do not have a Mendelian cause of the disease. Age, lifestyle, and environmental factors interact with complex genetic traits to contribute to the etiology. However, approximately 5-10 % of patients with colorectal cancer (CRC) and more than 40 % of patients meeting specific clinical features of the hereditary polyposis syndromes have a discoverable, actionable genetic cause which will significantly alter their medical management.
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Poliposis Adenomatosa del Colon/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Poliposis Adenomatosa del Colon/diagnóstico , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Asesoramiento Genético/métodos , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Mutación de Línea Germinal , Humanos , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genéticaRESUMEN
Colorectal cancer (CRC) is one of the leading cancers and cause of cancer deaths in American women and men. Females and males share a similar lifetime cumulative risk of CRC however, substantial differences in risk factors, tumor biology, and effectiveness of cancer prevention services have been observed between them. This review distills the evidence documenting the unique variation observed between the genders relating to CRC risk factors, screening and prevention. Consistent evidence throughout the world demonstrates that women reach equivalent levels of adenomas and CRC as men but it occurs nearly a decade later in life than in their male counterparts. Women have a higher proportion of tumors which are hypermethylated, have microsatellite instability and located in the proximal colon suggesting the serrated pathway may be of greater consequence in them than in men. Other CRC risk factors such as smoking, diet and obesity have been shown to have disparate effects on women which may related to interactions between estrogen exposure, body fat distribution, and the biologic underpinnings of their tumors. There is data showing the uptake, choice, and efficacy of different CRC screening methods in women is dissimilar to that in men. The mortality benefit from FOBT, sigmoidoscopy, and protection from interval CRC by colonoscopy appears to be lower in women than men. A greater understanding of these gender idiosyncrasies will facilitate an personalized approach to CRC prevention and should ultimately lead to a reduced burden of disease.
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Neoplasias Colorrectales/diagnóstico , Tamizaje Masivo/psicología , Caracteres Sexuales , Quimioprevención , Neoplasias Colorrectales/prevención & control , Dieta , Femenino , Humanos , Factores de RiesgoRESUMEN
Background and study aims Published studies report a higher adenoma detection rate (ADR) for FIT-DNA as compared with FIT. Data are less replete about the performance of stool-based tests for sessile serrated polyp (SSP) detection. We performed a meta-analysis to evaluate the performance of FIT and FIT-DNA testing for SSP detection rate (SSPDR) in patients undergoing colonoscopy for follow up of positive noninvasive tests. Methods A comprehensive literature search of multiple databases (until September 2022) was performed to identify studies reporting SSPDR in patients with positive FIT or FIT-DNA tests. The outcome was overall colonoscopy detection of any SSPs and advanced serrated polyps (ASP: SSP ≥ 10 mm and/or dysplasia). Results Included were 482,405 patients (52.4% females) with a mean age of 62.3 ± 4.4 years from 23 studies. The pooled SSPDR for all positive stool-based tests was 5.3% and higher for FIT-DNA (15.0%, 95% confidence interval [CI] 8.3-25.7) versus FIT (4.1%, 95% CI 3.0-5.6; P = 0.0002). The overall pooled ASP detection rate was 1.4% (95% CI 0.81-2.3) and higher for FIT-DNA (3.8 %, 95% CI 1.7-8.6) compared with FIT (0.71%, 95% CI 0.36-1.4; P <0.01). SSPDR with FIT-DNA was also significantly higher than FIT when the FIT cutoff was >10 ug/g and in FIT-positive patients in studies conducted in North America ( P <0.05). Conclusions FIT-DNA outperformed FIT in both SSP and ASP detection including FIT with a lower threshold cutoff of >10 ug/g. Further comparative studies are needed to assess the impact of our findings on colorectal cancer reduction.
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Lynch syndrome (LS), the most common hereditary cause of colorectal cancer, predisposes to upper gastrointestinal neoplasia. The prevalence of Barrett's esophagus (BE) is elevated in some hereditary gastrointestinal cancer syndromes but has not been systematically evaluated in LS. We assessed the prevalence of BE, BE-related dysplasia, esophageal adenocarcinoma (EAC), and factors associated with BE in LS. Asymptomatic patients with a germline pathogenic variant (PV) in the DNA mismatch repair (MMR) genes undergoing EGD for LS surveillance were identified from a hereditary colorectal cancer registry. We assessed the prevalence of BE and compared demographic, clinical, and endoscopic factors in LS patients with and without BE by logistic regression analysis. 323 patients were included. 21 patients (6.5%) were diagnosed with BE including 38% of females and 33% without gastroesophageal reflux disease (GERD). Dysplasia was diagnosed in two patients (9.5%) and EAC in one (4.8%) patient. Factors associated with BE included male gender (OR 3.00, 1.21-7.46), age at last LS EGD (OR 1.04, 1.01-1.08), presence of hiatal hernia (OR 20.09, 4.57-88.23), hiatal hernia > 3 cm (OR 11.25, 2.41-51.94), and GERD (OR 3.39, 1.32-8.67). No MMR PV was associated with BE. BE was diagnosed in 1 of 15 patients undergoing EGD surveillance for LS and nearly 10% had dysplasia including one EAC. Risk factors associated with BE in LS are similar to those established for BE in the general population. More studies are needed to evaluate if an association between BE and LS exists.
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Esófago de Barrett , Neoplasias Colorrectales Hereditarias sin Poliposis , Neoplasias Esofágicas , Reflujo Gastroesofágico , Hernia Hiatal , Femenino , Humanos , Masculino , Esófago de Barrett/epidemiología , Esófago de Barrett/genética , Hernia Hiatal/complicaciones , Hernia Hiatal/epidemiología , Neoplasias Colorrectales Hereditarias sin Poliposis/epidemiología , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/complicaciones , Prevalencia , Factores de Riesgo , Neoplasias Esofágicas/epidemiología , Neoplasias Esofágicas/genética , Reflujo Gastroesofágico/complicaciones , Reflujo Gastroesofágico/epidemiología , Reflujo Gastroesofágico/patologíaRESUMEN
Importance: The benefits from colorectal cancer (CRC) screening may take 10 to 15 years to accrue. Therefore, screening is recommended for older adults who are in good health. Objective: To determine the number of screening colonoscopies done in patients older than 75 years with a life expectancy of fewer than 10 years, diagnostic yield, and associated adverse events within 10 days and 30 days of the procedure. Design: This cross-sectional study with a nested cohort between January 2009 and January 2022 in an integrated health system assessed asymptomatic patients older than 75 years who underwent screening colonoscopy in the outpatient setting. Reports with incomplete data, any indication other than screening, patients who had a colonoscopy within the previous 5 years, and patients with a personal history of inflammatory bowel disease or CRC were excluded. Exposures: Life expectancy based on a prediction model from previous literature. Main Outcomes and Measures: The primary outcome was the percentage of screened patients who had limited (<10 years) life expectancy. Other outcomes included colonoscopy findings and adverse events that developed within 10 days and 30 days of the procedure. Results: A total of 7067 patients older than 75 years were included. The median (IQR) age was 78 (77-79) years, 3967 (56%) were women, and 5431 (77%) were White with an average of 2 comorbidities (taken from a select group of comorbidities). The proportion of colonoscopies performed on patients with a life expectancy of fewer than 10 years aged 76 to 80 years was 30% in both sexes and increased with age-82% of men and 61% of women aged 81 to 85 years (71% total), and 100% of patients beyond the age of 85 years. Adverse events requiring hospitalizations were common at 10 days (13.58 per 1000) and increased with age, particularly among patients older than 85 years. The detection of advanced neoplasia varied from 5.4% among patients aged 76 to 80 years to 6.2% in those aged 81 to 85 years and 9.5% among patients older than 85 years (P = .02). Of the total population, 15 patients (0.2%) had invasive adenocarcinoma; among patients with a life expectancy of fewer than 10 years, 1 of 9 was treated, whereas 4 of 6 patients with a life expectancy of greater than or equal to 10 years were treated. Conclusions and Relevance: In this cross-sectional study with a nested cohort, most screening colonoscopies performed in patients older than 75 years were in patients with limited life expectancy and associated with increased risk of complications. Colorectal cancer was exceedingly rare.
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Colonoscopía , Neoplasias Colorrectales , Masculino , Humanos , Femenino , Anciano , Anciano de 80 o más Años , Estudios Transversales , Colonoscopía/efectos adversos , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/prevención & control , Esperanza de Vida , Tamizaje Masivo , Detección Precoz del Cáncer/métodosRESUMEN
Importance: Identifying hereditary cancer predisposition facilitates high-risk organ-specific cancer surveillance and prevention. In PTEN hamartoma tumor syndrome (PHTS), longitudinal studies remain lacking, and there are insufficient data on cancers in children and young adults, as well as individuals with neurodevelopmental disorders (NDD). Objective: To evaluate lifetime cancer risks, including second malignant neoplasms (SMN), among patients with PHTS. Design, Setting, and Participants: Prospective longitudinal cohort study (September 1, 2005, through January 6, 2022). General population risks from the Surveillance, Epidemiology, and End Results database. Patients with PHTS, molecularly defined as carrying germline PTEN variants, were accrued from community and academic medical centers throughout North America, South America, Europe, Australia, and Asia. Data were analyzed from July 2022 to February 2023. Exposures: Review of physical and electronic medical records, and follow-up through clinical visits or telephone interviews. Main Outcomes and Measures: Lifetime cancer risks in PHTS relative to the general population. Results: A total of 7302 patients were prospectively accrued, 701 of whom had germline PTEN variants (median [IQR] age at consent, 38 [12-52] years; 413 female patients [59%]). Longitudinal follow-up data could be obtained for 260 patients (37%), with a median (IQR) follow-up of 4 (2-8) years. Of the 701 patients, 341 (49%) received at least 1 cancer diagnosis, with 144 (42%) of those having SMN. The study found significantly elevated lifetime risks for breast (91%), endometrial (48%), thyroid (33%), kidney (30%), and colorectal cancers (17%), as well as melanoma (5%). Cancer diagnoses were also observed in children and young adults with PHTS (15%) and in patients with PHTS with neurodevelopmental disorders (11%). Elevated risks (P < .001) of thyroid (age-adjusted standardized incidence ratios [SIR], 32.1; 95% CI, 26.0-39.0), kidney (SIR, 26.5; 95% CI, 18.8-36.3), endometrial (SIR, 26.0; 95% CI, 19.5-34.1), breast (SIR, 20.3; 95% CI, 17.3-23.7), and colorectal (SIR, 7.9; 95% CI, 5.2-11.7) cancers, and melanoma (SIR, 6.3; 95% CI, 3.5-10.5) were observed. Of the 341 patients with PHTS with cancer, 51 (15%) had 1 or more cancers diagnosed at age 29 years or younger, and 16 (31.4%) of those developed SMN at final follow-up. Twenty-three patients with PHTS with NDD and cancer were identified, with 5 (22%) having developed SMN at final follow-up. Individuals with PHTS and NDD showed higher lifetime cancer risks compared with individuals with PHTS but without NDD (hazard ratio, 2.7; 95% CI, 1.7-4.2; P < .001). Conclusions and Relevance: This cohort study found consistently elevated lifetime cancer risks in PHTS. Organ-specific surveillance should continue in patients with PHTS. Additional study is required to ascertain elevated cancer risks in patients with PHTS with NDD.
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Síndrome de Hamartoma Múltiple , Melanoma , Neoplasias Primarias Secundarias , Adulto Joven , Humanos , Niño , Femenino , Adulto , Adolescente , Persona de Mediana Edad , Estudios de Cohortes , Estudios Prospectivos , Estudios Longitudinales , Síndrome de Hamartoma Múltiple/epidemiología , Síndrome de Hamartoma Múltiple/patología , Predisposición Genética a la Enfermedad , Fosfohidrolasa PTEN/genéticaRESUMEN
BACKGROUND & AIMS: Advanced liver disease is a significant risk factor for perioperative complications after cardiac surgery. However, no published studies have adjusted the observed outcomes for other well-known, non-liver-related factors that affect mortality. We evaluated the effects of cirrhosis on operative mortality and morbidity after cardiac surgery, after adjusting for nonrelated risk factors associated with liver disease. METHODS: We analyzed data from patients with cirrhosis who underwent cardiac surgery with cardiopulmonary bypass from 1992 to 2009 (n = 54). Patients who underwent cardiac surgery at the same institution were identified during the same time period and matched 1:4 by using propensity score matching (controls, n = 216). Child-Pugh (CP) class and score were calculated for the patients with cirrhosis. Mortality and morbidity were determined after 30 and 90 days. RESULTS: Within 90 days, 4.6% of patients with CP score <8 and 70% of patients with CP score ≥ 8 died (P < .017). Mortality of patients with CP score <8 was comparable to that of matched controls. Patients with CP scores <8 had significantly shorter average length of hospital stay (15.6 vs 26 days; P < .017) and were less likely to develop renal failure (P < .017) and require dialysis (P < .017) than patients with CP scores ≥ 8; these values were similar between patients with CP scores <8 and their matched controls. CONCLUSIONS: After adjusting for non-liver-related risk factors, patients with compensated cirrhosis (defined by CP score <8) can undergo cardiac surgery with cardiopulmonary bypass with no significant increases in postoperative mortality and morbidity. For this group of patients, comorbidities, rather than liver failure, appear to account for the occasional death.
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Puente Cardiopulmonar/efectos adversos , Cardiopatías/cirugía , Cirrosis Hepática/complicaciones , Complicaciones Posoperatorias/epidemiología , Índice de Severidad de la Enfermedad , Adulto , Anciano , Anciano de 80 o más Años , Diálisis , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Medición de Riesgo , Análisis de Supervivencia , Resultado del TratamientoRESUMEN
Socioeconomic disparities adversely affected healthcare use during COVID-19 lockdown. However, trends in these disparities post lockdown are unknown. Therefore, our aim was to study temporal trends and factors associated with gastroenterology healthcare access and disparities during and after COVID-19 lockdown. This cohort study consisted of patients receiving outpatient care in the Cleveland Clinic gastroenterology department between March 2020 and June 2020 and corresponding time periods in 2019 and 2021. Patient demographics and socioeconomic factors were extracted and analyzed. There were 47,031 patients (mean age 56.3±17.6 years, 61.9% female and 76.4% white) included. Patients ≥65 years sought healthcare less frequently during and after the lockdown (40.1% vs 34.8% vs 35.2% in 2019, 2020, and 2021 respectively). Missed visits (4.2% vs 10% vs 10.4%), tobacco (11.4% vs 15.9% vs 16.1%), alcohol (38.6% vs 45.5% vs 50.9%), and illicit drug use (3.5% vs 5.8% vs 10.7%) have steadily increased during and after the lockdown compared with prepandemic levels. Factors associated with reduced telehealth use were black race (OR 0.89, 95% CI 0.81 to 0.99), Hispanic race (OR 0.63, 95% CI 0.51 to 0.77)), Medicaid/other public insurance (OR 0.87, 95% CI 0.79 to 0.95)), unemployed status (OR 0.85, 95% CI 0.79 to 0.92)), and non-English/Spanish speakers (OR 0.66, 95% CI 0.46 to 0.94)). In conclusion, socioeconomic and ethnic disparities persist in healthcare use even a year after the onset of the COVID-19 pandemic. There is an alarming increase in missed visits and substance abuse. Therefore, efforts should be targeted on improving healthcare access for these aforementioned vulnerable groups.