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1.
J Natl Compr Canc Netw ; 22(7): 438-446, 2024 09.
Artigo em Inglês | MEDLINE | ID: mdl-39236750

RESUMO

The NCCN Guidelines for Colorectal Cancer (CRC) Screening describe various colorectal screening modalities as well as recommended screening schedules for patients at average or increased risk of developing sporadic CRC. They are intended to aid physicians with clinical decision-making regarding CRC screening for patients without defined genetic syndromes. These NCCN Guidelines Insights focus on select recent updates to the NCCN Guidelines, including a section on primary and secondary CRC prevention, and provide context for the panel's recommendations regarding the age at which to initiate screening in average-risk individuals and those with increased risk based on personal history of childhood, adolescent, and young adult cancer.


Assuntos
Neoplasias Colorretais , Detecção Precoce de Câncer , Humanos , Neoplasias Colorretais/diagnóstico , Detecção Precoce de Câncer/normas , Detecção Precoce de Câncer/métodos , Programas de Rastreamento/métodos , Programas de Rastreamento/normas
2.
Clin Colon Rectal Surg ; 37(3): 198-202, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38606043

RESUMO

Caring for patients with colorectal cancer inherited cancer syndromes is complex, and it requires a well-thought integration process between a multidisciplinary team, an accessible database, and a registry coordinator. This requires an aligned vision between the administrative business team and the clinical team. Although we can manage most of the cancers that those patients develop according to oncologic guidance, the future risk of patients and their families might add emotional and psychological burdens on them in the absence of a well-qualified and trained team where balancing quality of life and cancer risk are at the essence of decision making.

3.
Clin Colon Rectal Surg ; 37(3): 140-145, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38606051

RESUMO

Hereditary colorectal cancer has been an area of focus for research and public health practitioners due to our ability to quantify risk and then act based on such results by enrolling patients in surveillance programs. The wide access to genetic testing and whole-genome sequencing has resulted in identifying many low/moderate penetrance genes. Above all, our understanding of the family component of colorectal cancer has been improving. Polygenic scores are becoming part of the risk assessment for many cancers, and the data about polygenic risk scores for colorectal cancer is promising. The challenge is determining how we incorporate this data in clinical care.

4.
Dis Colon Rectum ; 66(10): 1339-1346, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-37163656

RESUMO

BACKGROUND: Hereditary colorectal cancer is an increasingly complex field in which the commoner syndromes are being augmented by rarer genetic presentations contributing to familial polyposis and colorectal cancer. Coming to grips with the complexity is difficult because of the phenotypic and genotypic overlap between syndromes. OBJECTIVE: This study aimed to describe a new way of thinking about syndromes of hereditary colorectal cancer based on their embryonic tissue of origin. DATA SOURCES: Articles were searched through PubMed and MEDLINE. STUDY SELECTION: The terms "hereditary colorectal cancer," "syndromes of hereditary colorectal cancer," and "hereditary polyposis" were used to direct the search. RESULTS: Primarily endoderm-derived syndromes were different from mesoderm-derived syndromes in their genetics, molecular biology, histology, and clinical course. LIMITATIONS: There is considerable phenotypic and genotypic overlap between syndromes, even when considering embryonic tissue of origin. CONCLUSIONS: Thinking about hereditary syndromes of colorectal cancer from the perspective of embryonic tissue of origin provides a fresh look at phenotype and genotype that opens new areas of exploration. UNA FORMA DIFERENTE DE PENSAR SOBRE LOS SNDROMES DEL CNCER COLORRECTAL HEREDITARIO: ANTECEDENTES:El cáncer colorrectal hereditario es un campo cada vez más complejo donde los síndromes más comunes se ven aumentados por presentaciones genéticas más raras que contribuyen a la poliposis familiar y al cáncer colorrectal. Hacer frente a esta complejidad resulta difícil debido a la superposición fenotípica y genotípica entre los síndromes.OBJETIVO:En este artículo, describimos una nueva forma de pensar sobre los síndromes de cáncer colorrectal hereditario en función del origen de su tejido embrionario.FUENTES DE DATOS:Se realizaron búsquedas de artículos en Pubmed y Medline.SELECCIÓN DE ESTUDIOS:Se utilizaron los términos "cáncer colorrectal hereditario", "síndromes de cáncer colorrectal hereditario", "poliposis hereditaria" para dirigir la búsqueda.RESULTADOS:Principalmente los síndromes derivados del endodermo fueron diferentes a los síndromes derivados del mesodermo en su genética, biología molecular, histología y curso clínico.LIMITACIONES:Existe una superposición fenotípica y genotípica considerable entre los síndromes, incluso cuando se considera el tejido de origen embrionario.CONCLUSIÓN:Pensar en los síndromes hereditarios del cáncer colorrectal desde la perspectiva del tejido embrionario de origen proporciona una nueva mirada al fenotipo y al genotipo que abre nuevas áreas de exploración. (Traducción-Dr Osvaldo Gauto ).


Assuntos
Polipose Adenomatosa do Colo , Neoplasias Colorretais , Síndromes Neoplásicas Hereditárias , Humanos , Síndrome , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/patologia , Neoplasias Colorretais/genética , Fenótipo , Genótipo , Síndromes Neoplásicas Hereditárias/genética
5.
Dis Colon Rectum ; 66(12): 1532-1538, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37493224

RESUMO

BACKGROUND: Patients with familial adenomatous polyposis who have undergone restorative proctocolectomy can develop adenomas in the pouch. OBJECTIVE: To review experience with pouch surveillance and create a classification system for polyposis severity. DESIGN: A retrospective review of patients undergoing IPAA and follow-up at 1 institution. SETTING: A center for hereditary colorectal cancer within a quaternary referral center. PATIENTS: All patients undergoing IPAA and followed endoscopically after surgery by the center. INTERVENTIONS: Yearly pouchoscopy and treatment of polyps as required. MAIN OUTCOME MEASURES: Primary outcome measure was incidence and severity of pouch neoplasia and its changes with time. METHODS: A retrospective study of patients who had a restorative proctocolectomy for familial adenomatous polyposis at Cleveland Clinic. Severity of polyposis was classified on the basis of size, number, and histology. RESULTS: One hundred sixty-five patients were analyzed. The median age at IPAA was 31 years and 52% were male. The median follow-up was 10.1 years; the median number of pouchoscopies per patient was 4. The median interval between pouchoscopies was 21.9 months. Overall, the incidence of pouch adenomas was found in 47 patients (28.5%). The median time from pouch to first pouch adenoma diagnosis was 10.3 years. The estimated cumulative incidence rates of pouch adenoma at 5, 10, 15, 20, and 30 years after IPAA were 5.9%, 21.7%, 40%, 54.8%, and 69.9%, respectively. At the first diagnosis of pouch adenoma, 25 patients had stage 1, 10 had stage 2, 8 had stage 3, and 4 had stage 4. Twenty of 47 patients progressed to a higher stage. No patient developed cancer. LIMITATIONS: Genotype was not available for all patients. CONCLUSIONS: There is an increasing incidence of pouch neoplasia after restorative proctocolectomy, reaching a plateau at 25 years. The polyposis is usually mild but sometimes increases in severity. LA INCIDENCIA ACUMULADA Y LA PROGRESIN DE LOS ADENOMAS DE LA BOLSA ILEAL EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR: ANTECEDENTES:Los pacientes con poliposis adenomatosa familiar que se han sometido a una proctocolectomía restauradora pueden desarrollar adenomas en la bolsa.OBJETIVO:Revisamos nuestra experiencia con la vigilancia de la bolsa y creamos un sistema de clasificación para la gravedad de la poliposis.DISEÑO:Una revisión retrospectiva de pacientes sometidos a anastomosis de bolsa ileoanal y seguimiento en una institución.ESCENARIO:Un centro para el cáncer colorrectal hereditario dentro de un centro de referencia cuaternarioPACIENTES:Todos los pacientes sometidos a anastomosis reservorio ileoanal y seguidos por vía endoscópica tras la cirugía por el centro.INTERVENCIONES:Bolsascopia anual y tratamiento de pólipos según sea necesarioPRINCIPALES MEDIDAS DE RESULTADO:Primaria: Incidencia y gravedad de la neoplasia del reservorio y sus cambios con el tiempo.MÉTODOS:Un estudio retrospectivo de pacientes que se sometieron a una proctocolectomía restauradora por poliposis adenomatosa familiar en la Clínica Cleveland. La gravedad de la poliposis se clasificó según el tamaño, el número y la histología.RESULTADOS:Se analizaron 165 pacientes. La mediana de edad del IPAA fue de 31 años y el 52% eran hombres. La mediana de seguimiento fue de 10,1 años; número medio de reservorioscopias por paciente = 4. El intervalo medio entre reservorioscopias fue de 21,9 meses. Incidencia global de adenomas de reservorio = 47/165 (28,5%). Tiempo mediano desde el reservorio hasta el primer diagnóstico de adenoma en reservorio = 10,3 años. La tasa de incidencia acumulada estimada de adenoma de bolsa a los 5, 10, 15, 20, y 30 años después de la IPAA es del 5,9%, 21,7%, 40%, 54,8%, y 69,9%, respectivamente. En el primer diagnóstico de adenoma de la bolsa, 25 pacientes tenían estadio 1, 10 estadio 2, 8 estadio 3 y 4 estadio 4. 20/47 pacientes progresaron a un estadio superior Ningún paciente desarrolló cáncer.LIMITACIONES:Genotipo no disponible para todos los pacientesCONCLUSIONES:Hay una incidencia creciente de neoplasia de la bolsa después de la proctocolectomía restauradora, alcanzando una meseta a los 25 años. La poliposis suele ser leve, pero a veces aumenta en severidad. (Traducción-Dr. Yesenia Rojas-Khalil ).


Assuntos
Polipose Adenomatosa do Colo , Bolsas Cólicas , Neoplasias Colorretais , Proctocolectomia Restauradora , Feminino , Humanos , Masculino , Polipose Adenomatosa do Colo/epidemiologia , Polipose Adenomatosa do Colo/cirurgia , Neoplasias Colorretais/epidemiologia , Incidência , Proctocolectomia Restauradora/efeitos adversos , Estudos Retrospectivos , Adulto
6.
J Surg Oncol ; 127(8): 1259-1263, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37222690

RESUMO

Lynch syndrome is the most common hereditary colorectal cancer syndrome. Although the current literature has been supportive of extended resections in certain Lynch syndrome patients with colon cancer. This article reviews the recent data on the topic and raises questions about the importance of homogenous high-quality prospective data to establish the accurate risk of cancer and future risk of metachronous cancer in the setting of all these risk reduction interventions.


Assuntos
Neoplasias do Colo , Neoplasias Colorretais Hereditárias sem Polipose , Síndromes Neoplásicas Hereditárias , Humanos , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/cirurgia , Estudos Prospectivos , Comportamento de Redução do Risco
7.
J Surg Oncol ; 127(8): 1296-1299, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37222694

RESUMO

Microsatellite unstable (MSI-H) colorectal cancers (CRC) are the hallmark of Lynch Syndrome. Advances in immunotherapy have yielded a change in the treatment of those cancers. Recent publications about neoadjuvant immunotherapy in CRC are triggering a high interest to use under the umbrella of achieving a complete clinical response. Although we do not know the extent of this response over time, avoiding surgical morbidity seems to be on the horizon for this subset of CRC.


Assuntos
Neoplasias do Colo , Neoplasias Colorretais Hereditárias sem Polipose , Humanos , Terapia Neoadjuvante , Imunoterapia , Repetições de Microssatélites
8.
Dis Colon Rectum ; 65(6): 846-850, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-34343160

RESUMO

BACKGROUND: Nonspecific acute pouchitis is common in patients with ulcerative colitis who undergo IPAA, but there is disagreement about the rate at which this occurs in patients with familial adenomatous polyposis. OBJECTIVE: This study aimed to define the rate at which nonspecific acute pouchitis occurs in patients with familial adenomatous polyposis. SETTING: This study was conducted at a hereditary colorectal cancer center in a large academic medical center. DESIGN: This is a retrospective cohort study using prospectively gathered data. PATIENTS: Patients with familial adenomatous polyposis who have had IPAA were included. INTERVENTIONS: Symptoms, pouchoscopy and pouch radiography, and pouch biopsy were evaluated. MAIN OUTCOME MEASURES: The primary outcomes measured were the presence of nonspecific acute pouchitis and the alternative diagnosis of pouch dysfunction. RESULTS: There were 250 patients with familial adenomatous polyposis who had undergone IPAA; 38 (15.2%) had been labeled as having "pouchitis": 23 men and 15 women. Median age was 55 years (range, 18-90 years). No patient had nonspecific, acute pouchitis as defined by our criteria. In 9 cases, the diagnosis was derived from benign ulcers common in ileal pouches. Stool frequency was the most common symptom associated with the "pouchitis" label, but actual causes for the frequency included poor pouch emptying, poor eating habits, poor bowel habits, and afferent limb syndrome. Median stool frequency was 9, ranging from 4 to 15 per day. Every patient had at least 1 pouch endoscopy, and the median number was 19 per patient (range, 1-21). Nine patients had pouch biopsies to rule out inflammation; all showed chronic active enteritis, a normal finding in ileal pouches. LIMITATIONS: This study was limited by its retrospective nature. CONCLUSIONS: We could not confirm any case of nonspecific acute pouchitis in patients with familial adenomatous polyposis. Those caring for patients with familial adenomatous polyposis who have a pouch should seek causes for pouch-related symptoms other than "pouchitis." See Video Abstract at http://links.lww.com/DCR/B666.POUCHITIS AGUDA INESPECÍFICA EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR: MENOS COMÚN DE LO QUE PENSAMOSANTECEDENTES:La pouchitis aguda e inespecífica es común en pacientes con colitis ulcerativa, sometidos a anastomosis de bolsa ileoanal, pero no hay acuerdo sobre la frecuencia en que se presenta en pacientes con poliposis adenomatosa familiar (PAF).OBJETIVO:Definir la frecuencia en la que se presenta pouchitis aguda inespecífica en pacientes con poliposis adenomatosa familiar.ENTORNO CLINICO:Centro de cáncer colorrectal hereditario en un gran centro médico académico.DISEÑO:Estudio de cohorte retrospectivo utilizando datos recopilados prospectivamente.PACIENTES:Pacientes con poliposis adenomatosa familiar sometidos a bolsa con anastomosis ileoanal.INTERVENCIONES:Síntomas, proctoscopia, radiografía y biopsia de bolsa ileoanal.PRINCIPALES MEDIDAS DE VALORACION:Presencia de pouchitis aguda inespecífica; diagnósticos alternos de disfunción de la bolsa ileal.RESULTADOS:De 250 pacientes con poliposis adenomatosa familiar sometidos a una anastomosis anal de la bolsa ileal; 38 (15,2%), habían sido etiquetados como "pouchitis", 23 hombres y 15 mujeres. La mediana de edad fue de 55 años (rango de 18 a 90 años). Ningún paciente tuvo pouchitis aguda inespecífica según lo definido por nuestros criterios. En 9 casos el diagnóstico se derivó de úlceras benignas frecuentes en bolsas ileales. La frecuencia de las evacuaciones fue el síntoma más común asociado con la etiqueta "pouchitis", pero las causas reales de la frecuencia, incluyeron un mal vaciado de la bolsa, malos hábitos alimenticios, malos hábitos intestinales y síndrome de asa aferente. La frecuencia media de las evacuaciones fue de 9, con un rango de 4 a 15 por día. A cada paciente se le realizó al menos una endoscopia de la bolsa: la mediana fue de 19 por paciente (rango de 1 a 21). A 9 pacientes se les realizó biopsia de bolsa para descartar inflamación: todos mostraron enteritis activa crónica, un hallazgo normal en las bolsas ileales.LIMITACIONES:Naturaleza retrospectiva del estudio.CONCLUSIONES:No pudimos confirmar ningún caso de pouchitis aguda e inespecífica en pacientes con PAF. Aquellos que atienden a pacientes con PAF con bolsa ileal, deben buscar otras causas para los síntomas relacionados con la bolsa que no sean "pouchitis". Consulte Video Resumen en http://links.lww.com/DCR/B666. (Traducción-Dr. Fidel Ruiz Healy).


Assuntos
Polipose Adenomatosa do Colo , Colite Ulcerativa , Bolsas Cólicas , Pouchite , Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/cirurgia , Colite Ulcerativa/complicações , Colite Ulcerativa/cirurgia , Bolsas Cólicas/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pouchite/diagnóstico , Pouchite/epidemiologia , Pouchite/etiologia , Estudos Retrospectivos
9.
Dis Colon Rectum ; 65(5): 727-734, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-34907986

RESUMO

BACKGROUND: Perineal hernia is a well-known, rare complication following abdominoperineal resection for rectal cancer. Due to its rarity, the literature on its surgical repair is comprised of case reports and small case series, and not one surgical approach has been established as superior. OBJECTIVE: This study aimed to identify the repair methods used at our institution and their outcomes. We hypothesized that a perineal approach would have a similar recurrence rate to a transabdominal repair with shorter hospital length of stay. DESIGN: This study was a retrospective case series. SETTINGS: This study was conducted in a large, single institution setting. PATIENTS: Patients who underwent surgical repair for perineal hernia from January 2009 to December 2019 were included. MAIN OUTCOME MEASURES: The primary outcomes were perineal hernia recurrence, surgical approach to repair, and length of stay. RESULTS: We identified 36 patients who underwent surgical repair of perineal hernia at our institution. Twenty patients received neoadjuvant chemoradiation therapy. Most patients (29) had previously undergone abdominoperineal resection; 5 were robotic, 15 were laparoscopic, 1 was robotic converted to open, and 8 were open. Patients were repaired through a perineal approach (22) or transabdominally (14). The median length of stay was 4 days (1-12) after a perineal approach and 8 days (3-18) after a transabdominal approach. At a median follow-up of 12.7 months (1-72), there were 4 recurrences after perineal repair and 3 recurrences after transabdominal repair. LIMITATIONS: This study was limited by its small sample size (36), the retrospective and nonrandomized nature of the case series, and a lack of routine postoperative imaging. A median follow-up length of 12.7 months may not be adequate to detect all recurrences. CONCLUSIONS: This case series supports the perineal approach for surgical repair; it should be the first approach considered, as it is less invasive and may be associated with shorter length of stay compared to an open transabdominal approach. Male gender and neoadjuvant chemotherapy may be possible risk factors for the development of perineal hernia after abdominoperineal resection. See Video Abstract at http://links.lww.com/DCR/B856. REPARACIN QUIRRGICA DE HERNIA PERINEAL POSOPERATORIA UN CASO PARA EL ABORDAJE PERINEAL: ANTECEDENTES:La hernia perineal es una complicación rara y bien conocida después de la resección abdominoperineal por cáncer de recto. Debido a su rareza, la literatura sobre su reparación quirúrgica se compone de informes de casos y pequeñas series de casos, y ningún abordaje quirúrgico se ha establecido como superior.OBJETIVO:El presente estudio tuvo como objetivo identificar los métodos de reparación utilizados en nuestra institución y sus resultados. Presumimos que un abordaje perineal tendría una tasa de recurrencia similar a una reparación transabdominal, con una estancia hospitalaria más corta.DISEÑO:Ésta es una serie de casos retrospectiva.AJUSTES:El escenario fue una gran institución única.PACIENTES:Los pacientes que se sometieron a reparación quirúrgica por hernia perineal desde enero del 2009 hasta diciembre del 2019 se incluyeron en la revisión.PRINCIPALES MEDIDAS DE RESULTADO:Los resultados primarios fueron la recurrencia de la hernia perineal, el abordaje quirúrgico para la reparación y la duración de la estadía.RESULTADOS:Identificamos 36 pacientes que fueron sometidos a reparación quirúrgica de hernia perineal en nuestra institución. La mayoría de los pacientes recibieron quimiorradioterapia neoadyuvante (n = 20). La mayoría de los pacientes (n = 29) se habrían sometido previamente a una resección abdominoperineal (n = 5 robótica, n = 15 laparoscópica, n = 1 robótica convertida a abierta, n = 8 abierta). Los pacientes fueron reparados mediante un abordaje perineal (n = 22) o transabdominal (n = 14). La mediana de la estancia hospitalaria fue de 4 días (rango, 1-12) después de un abordaje perineal y de 8 días (rango 3-18) después de un abordaje transabdominal. En una mediana de seguimiento de 12,7 meses (rango, 1-72) hubo 4 recurrencias después de la reparación perineal y 3 recurrencias después de la transabdominal.LIMITACIONES:El tamaño de la muestra pequeño (n = 36), la naturaleza retrospectiva y no aleatorizada de la serie de casos, la falta de imágenes posoperatorias de rutina, la mediana de seguimiento de 12,7 meses puede no ser adecuada para detectar todas las recurrencias.CONCLUSIONES:Esta serie de casos apoya el abordaje perineal para la reparación quirúrgica; debe ser el primer abordaje considerado, ya que es menos invasivo y puede estar asociado con una estadía más corta en comparación con el abordaje transabdominal abierto. El sexo masculino y la quimioterapia neoadyuvante podrían ser posibles factores de riesgo para el desarrollo de hernia perineal después de la resección abdominoperineal. Consulte Video Resumen en http://links.lww.com/DCR/B856. (Traducción- Dr. Francisco M. Abarca-Rendon).


Assuntos
Hérnia Incisional , Protectomia , Neoplasias Retais , Humanos , Hérnia Incisional/etiologia , Hérnia Incisional/cirurgia , Masculino , Complicações Pós-Operatórias/etiologia , Protectomia/efeitos adversos , Protectomia/métodos , Neoplasias Retais/complicações , Recidiva , Estudos Retrospectivos
10.
Dis Colon Rectum ; 65(1): 40-45, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34882627

RESUMO

BACKGROUND: Approximately 5% to 10% of patients with Lynch syndrome develop urothelial carcinoma. Current screening recommendations vary and are based on expert opinion. Practices need to be evaluated for clinical effectiveness. Our program utilizes urinalysis as a screening test, followed by additional evaluation of microscopic hematuria. OBJECTIVE: This study aimed to determine the clinical utility of a urinalysis-based screening approach for urothelial cancers in patients with Lynch syndrome. DESIGN: This is a retrospective review of a prospectively maintained cohort. SETTING: Patients with Lynch syndrome were managed at a tertiary referral center. PATIENTS: All patients with a Lynch syndrome diagnosis who had a screening urinalysis done as part of our institutional screening protocol (N = 204) were included. MAIN OUTCOME MEASURES: A single-institution hereditary colorectal cancer syndrome registry was queried for patients with Lynch syndrome who had been screened for urothelial carcinomas by urinalysis. Demographics, genotype, family history of urothelial carcinoma, urinalysis results, and subsequent screenings and final diagnosis were gathered for patients between 2008 and 2017. RESULTS: Two hundred four asymptomatic patients underwent screening by urinalysis. Nineteen patients (9.3%) had microscopic hematuria and were further evaluated with urine cytology, imaging, cystoscopy, and/or Urology consultation. None of the 19 patients with microscopic hematuria had urothelial carcinoma. During the same study period, 5 of 204 (2.4%) patients with Lynch syndrome were diagnosed with urothelial cancer, and all presented with symptoms between screening intervals. LIMITATIONS: This is a retrospective study, and not all patients underwent the same secondary evaluation. CONCLUSIONS: No urothelial carcinomas were detected by screening urinalysis in our cohort of asymptomatic patients with Lynch syndrome. False-positive testing led to extensive, mostly uninformative, workups. If urothelial cancer screening is to continue, more effective screening approaches need to be identified. See Video Abstract at http://links.lww.com/DCR/B702. EVALUACIN DEL CRIBADO BASADO EN ANLISIS DE ORINA PARA CARCINOMA UROTELIAL EN PACIENTES CON SNDROME DE LYNCH: ANTECEDENTES:Aproximadamente el 5-10% de los pacientes con síndrome de Lynch desarrollan carcinoma urotelial. Las recomendaciones actuales de detección varían y se basan en la opinión de expertos. Las prácticas deben evaluarse para determinar su eficacia clínica. Nuestro programa utiliza el análisis de orina como prueba de detección, seguido de una evaluación adicional con hematuria microscópica.OBJETIVO:Determinar la utilidad clínica desde un enfoque de cribado basado en análisis de orina, para cánceres uroteliales en pacientes con síndrome de Lynch.DISEÑO:Revisión retrospectiva de una cohorte mantenida prospectivamente.ENTORNO CLINICO:Pacientes con síndrome de Lynch atendidos en un centro de referencia terciario.PACIENTES:Criterios de inclusión fueron todos los pacientes con diagnóstico de síndrome de Lynch realizándoles un análisis de orina de detección como parte de nuestro protocolo de detección institucional (N = 204).PRINCIPALES MEDIDAS DE VALORACION:Solicitando un registro de síndrome de cáncer colorrectal hereditario de una sola institución para pacientes con síndrome de Lynch previamente evaluados para carcinomas uroteliales mediante análisis de orina. Se recopilaron para los pacientes entre 2008 y 2017, datos demográficos, genotipo, antecedentes familiares de carcinoma urotelial, resultados del análisis de orina, posteriores exámenes de detección posteriores y diagnóstico final.RESULTADOS:Doscientos cuatro pacientes asintomáticos fueron sometidos a cribado mediante análisis de orina. Diecinueve pacientes (9,3%) tenían hematuria microscópica y fueron investigados más a fondo con citología de orina, imágenes, cistoscopia y / o consulta de urología. Ninguno de los 19 pacientes con hematuria microscópica tenían carcinoma urotelial. Durante el mismo período de estudio, 5 de 204 (2,4%) pacientes con síndrome de Lynch fueron diagnosticados con cáncer urotelial y todos presentaron presentando síntomas entre los intervalos de detección.LIMITACIONES:Estudio retrospectivo y no todos los pacientes sometidos a la misma evaluación secundaria.CONCLUSIONES:No se detectaron carcinomas uroteliales mediante análisis de orina de detección en nuestra cohorte de pacientes asintomáticos con síndrome de Lynch. Las pruebas de falsos positivos. Condujeron a estudios exhaustivos y en su mayoría poco informativos. Si se desea continuar con la detección del cáncer de urotelio, es necesario identificar enfoques de detección más efectivos. Consulte Video Resumen en http://links.lww.com/DCR/B702.


Assuntos
Carcinoma de Células de Transição/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/complicações , Urinálise/métodos , Urotélio/patologia , Adulto , Idoso , Carcinoma de Células de Transição/urina , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Eficiência Organizacional , Reações Falso-Positivas , Feminino , Hematúria/diagnóstico , Hematúria/etiologia , Humanos , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Estudos Retrospectivos , Urinálise/estatística & dados numéricos , Neoplasias Urológicas/patologia
11.
Dis Colon Rectum ; 64(8): 977-985, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-33960328

RESUMO

BACKGROUND: Rectal cuff and anal transitional zone neoplasia is an increasing challenge in patients with familial adenomatous polyposis who have undergone restorative proctocolectomy. Its real incidence, range of severity, and treatment efficacy are poorly documented. OBJECTIVE: We sought to document the evolution of rectal cuff and anal transitional zone neoplasia and describe its management. DESIGN: This is a retrospective cohort study collecting prospectively recorded data. SETTINGS: This study involved a hereditary colorectal cancer group in a large academic medical center. PATIENTS: All patients undergoing primary restorative proctocolectomy at this institution were included. INTERVENTIONS: Surveillance pouchoscopy and treatment of rectal cuff/anal transitional zone neoplasia were performed. MAIN OUTCOME MEASURES: The primary outcomes measured were the presence and the severity of rectal cuff/anal transitional zone neoplasia. Excision by cautery, snare, mucosectomy, or redo pouch was evaluated. RESULTS: A total of 165 patients were included: 52% were male (86/165) with a median age at restorative proctocolectomy of 31.0 years (SD 12.8). In 117 of 165, the proctocolectomy was their first operation and, in 48 of 165, it followed a colectomy. Of the patients, 83% (137/165) had stapled anastomosis; 17% had mucosectomy with handsewn anastomosis; and 14% (23/165) were treated with sulindac at some point during their surveillance. Median follow-up was 10.1 years (interquartile range, 4.5-17.2) and the median number of pouchoscopies per patient was 4 (interquartile range, 2-8). Seventy-eight of 165 (47.3%) developed rectal cuff/anal transitional zone adenomas, more in the stapled group (52.3%; 72/137) than in the handsewn group (21.4%; 6/28; p < 0.005). Median time to adenoma was 4.5 years (interquartile range, 2.4-8.9). Three patients developed cancer under surveillance, and, in 3 other patients, cancers developed when screenings lapsed. Five patients developed symptomatic anal stenosis secondary to repeated surgeries (median, 9 procedures; range, 2-10). LIMITATIONS: There was no quality-of-life measurement in patients who developed rectal cuff/anal transitional zone neoplasia. CONCLUSIONS: Rectal cuff/anal transitional zone adenomas are more common than previously reported. Mild polyposis can be controlled endoscopically, but repeated procedures in a higher stage are associated with risk of anal stenosis. Compliance with surveillance is essential to avoid cancer. See Video Abstract at http://links.lww.com/DCR/B594. INCIDENCIA Y TRATAMIENTO DE LA NEOPLASIA DEL REMANENTE RECTAL Y DE LA ZONA DE TRANSICIN ANAL EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR: ANTECEDENTES:La neoplasia del remanente rectal y de la zona de transición anal presenta un desafío mayor en pacientes con poliposis adenomatosa familiar tratados con una proctocolectomía restaurativa. Su incidencia real, el espectro de la gravedad y la eficacia del tratamiento están mal documentados.OBJETIVO:Buscamos documentar la evolución de la neoplasia del remanente rectal y de la zona de transición anal y describir su tratamiento.DISEÑO:Estudio de cohorte retrospectivo que recabó datos registrados prospectivamente.AMBITO:Un grupo con cáncer colorrectal hereditario de un importante centro médico académico.PACIENTES:Todos los pacientes operados por primera vez de proctocolectomía restaurativa en nuestra institución.INTERVENCIONES:Endoscopía del pouch para vigilancia y tratamiento de la neoplasia del remanente rectal / zona de transición anal.PRINCIPALES VARIABLES ANALIZADAS:La presencia y la gravedad de la neoplasia del remanente rectal / zona de transición anal. Resección con cauterio, asa, mucosectomía o rehacer el pouch.RESULTADOS:Se incluyeron un total de 165 pacientes: 52% eran hombres (86/165) con una mediana de edad al momento de la proctocolectomía restaurativa de 31,0 años (DE 12,8). En 117/165 la proctocolectomía fue su primera cirugía y en 48/165 fue posterior a una colectomía. En 83% (137/165) tenía una anastomosis con engrapadora, 17% tenía mucosectomía y anastomosis con sutura manual (HS). El 14% de los pacientes (23/165) fueron tratados con sulindac en algún momento durante su vigilancia. La mediana de seguimiento fue de 10,1 años (IQR: 4,5, 17,2) y la mediana del número de endoscopías del pouch por paciente fue de 4. (IQR: 2, 8) 78/165 (47,3%) desarrollaron adenomas en la zona de transición anal /remanente rectal, mayor en el grupo con engrapadaora (52,3%; 72/137) comparado con el grupo con sutura manual (21,4%; 6/28) (p <0,005). La mediana del tiempo hasta el adenoma fue de 4,5 años (IQR: 2,4, 8,9). Tres pacientes que se encontraban en vigilancia desarrollaron cáncer y en 3, otros cánceres se desarrollaron transcurrida la vigilancia. 5 pacientes desarrollaron estenosis anal sintomática secundaria a múltiples cirugías (mediana de 9 procedimientos; rango 2-10).LIMITACIONES:Falta de medición de la calidad de vida en pacientes que desarrollaron neoplasia del remanente rectal / zona de transición anal.CONCLUSIONES:Los adenomas de la zona de transición anal / remanente rectal son más comunes de lo reportado anteriormente. La poliposis leve se puede tratar por endoscopía, pero procedimientos repetidos en estadíos mayores se asocian con el riesgo de estenosis anal. El apego a la vigilancia es fundamental para evitar el cáncer. Consulte Video Resumen en http://links.lww.com/DCR/B594. (Traducción-Dr. Lisbeth Alarcon-Bernes).


Assuntos
Polipose Adenomatosa do Colo/cirurgia , Neoplasias do Ânus/cirurgia , Neoplasias Retais/cirurgia , Adulto , Anastomose Cirúrgica/métodos , Estudos de Coortes , Colectomia , Feminino , Humanos , Incidência , Mucosa Intestinal/cirurgia , Masculino , Proctocolectomia Restauradora , Estudos Retrospectivos
12.
Clin Colon Rectal Surg ; 37(3): 125-126, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38606048
13.
Clin Colon Rectal Surg ; 32(5): 386-393, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31507349

RESUMO

Anal cancer is a heterogeneous and rare disease process that accounts for ∼1.5% of all gastrointestinal tract malignancies. The perianal skin plays host to a variety of different premalignant and malignant lesions, all with variable histology, treatment options, and prognosis. Anal cancers in general are notorious for having a delayed or missed diagnosis leading to treatment delays and may have an impact on survival. This delay is in part due to the nonspecific symptomatology and also improper physical examination of the sensitive and anatomically complex perianal region and anal canal. This article examines the various types of perianal cancers and their precursor lesions and will explore treatment options as well as outcomes and prognosis.

15.
Int J Colorectal Dis ; 32(3): 375-382, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27817034

RESUMO

PURPOSE: Endoscopic stenting is used with increasing frequency to treat colorectal conditions. Little is known about what influences outcome. This study aimed to determine the impact of various factors on the short- and long-term results of colorectal stenting. METHODS: A retrospective review was conducted of all endoscopic stenting procedures performed by a colorectal surgeon at a tertiary referral institution between 2003 and 2013. Main outcome measures included technical success, clinical success, complications, and predictors of outcome. RESULTS: Of the stent procedures, 183 were performed in 165 patients. The majority of patients (90 %) presented with a malignant obstruction (intrinsic colonic vs. extrinsic non-colonic). Carcinomatosis was present in 22 % of patients with malignancy, and it was associated with lower technical success compared to non-carcinomatosis (adjusted odds ratio [AOR] 0.2 [95 % confidence interval (CI) 0.1-0.8]; p = 0.021). Colonic malignancy was associated with higher clinical success compared to non-colonic malignancy (AOR 3.8 [95 % CI 1.4-10.3]; p = 0.009). Carcinomatosis increased the risk of complications compared to non-carcinomatosis (AOR 3.2 [95 % CI 1.0-10.0]; p = 0.049). The risk of complication was higher when a stent was deployed in the rectum compared to the colon (AOR 4.1 [95 % CI 1.5-11.7]; p = 0.008). The use of a covered stent was associated with higher complication rate compared to a non-covered stent (AOR 13.6 [95 % CI 2.6-71.2]; p = 0.002). Balloon dilation was associated with an increased risk of complications (AOR 4.6 [95 % CI 1.3-16.2]; p = 0.017). CONCLUSIONS: Carcinomatosis was associated with lower technical success rate. Clinical success was higher in patients with a primary colonic malignancy. The use of a covered stent, balloon dilation of stricture, lesions in the rectum, and carcinomatosis were associated with higher risk for complications.


Assuntos
Neoplasias Colorretais/cirurgia , Endoscopia , Stents , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Prognóstico , Stents/efeitos adversos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
16.
Int J Colorectal Dis ; 30(5): 631-8, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25808012

RESUMO

PURPOSE: The purpose of this study is to report the outcomes of an algorithm-based multidisciplinary treatment approach to rectourethral fistula. METHODS: This study is a retrospective review of a prospectively collected database at a tertiary center of all consecutive patients treated between 2003 and 2013. RESULTS: Thirty males (mean age 63 years) were reviewed. Prostate cancer treatment was the most common fistula etiology (97%). Urinary drainage consisted of urethral catheter in all patients and suprapubic catheter in 14 (47%). The rate of fecal diversion was 67%. During a mean follow-up of 72 months, healing rate was 90% and recurrence rate 0%. Spontaneous healing was achieved in 14 patients (47%): 8 (27%) without fecal diversion and 6 (20%) following fecal diversion. Thirteen patients (43%) required definitive intervention. The majority of operated patients underwent transanal or transperineal flap (endorectal, dartos, or gracilis) successfully. Only 2 patients (7%) required an abdominal approach (positive oncologic margins or non-functioning bladder). Fifteen out of the 20 patients (75%) who underwent fecal diversion had stoma closure with an overall permanent stoma rate of 17%. Long-term urinary incontinence was noted in 11 patients (37%). Six patients (20%) required permanent urinary diversion or drainage catheters. CONCLUSIONS: Algorithm-based treatment approach for rectourethral fistula is useful in the management of this rare condition. Selective fecal diversion is possible, and majority of patients who require definitive intervention can be treated with a transanal or transperineal approach. The rate of permanent stoma is low, but long-term urinary dysfunction is frequent.


Assuntos
Algoritmos , Fístula Retal/cirurgia , Retalhos Cirúrgicos , Doenças Uretrais/cirurgia , Derivação Urinária/métodos , Fístula Urinária/cirurgia , Adulto , Idoso , Terapia Combinada , Criocirurgia/métodos , Cistoscopia/métodos , Bases de Dados Factuais , Endossonografia/métodos , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal/métodos , Proctoscopia/métodos , Doenças Raras , Fístula Retal/diagnóstico , Estudos Retrospectivos , Medição de Risco , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Doenças Uretrais/diagnóstico , Fístula Urinária/diagnóstico
17.
Langenbecks Arch Surg ; 400(4): 505-12, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25876737

RESUMO

PURPOSE: The aim of this study is to assess the incidence of incisional ventral hernia and small bowel obstruction following laparoscopic and open colorectal resection. METHODS: A retrospective review was performed of a large database comprising 13 hospitals, serving 3.6 million patients in Southern California. Patients 18 years and older undergoing elective colorectal resection over a 3-year period were included. The crude incidence rates were calculated, and relative risks of ventral hernia and small bowel obstruction were determined using multivariable proportional hazard modeling. RESULTS: Four thousand six hundred and thirteen patients underwent 4765 colorectal resections between August 2008 and August 2011. Fifty-nine percent of the cases were performed laparoscopically; the median age was 63 years, and 49% were males. Colorectal carcinoma (45%) and diverticulitis (18%) were the most common indications for surgery. The median follow-up was 2.4 years. Kaplan-Meier estimates of ventral hernia at 1, 2, and 3 years among the open cohort were significantly higher at 10.1, 17.0, and 20.5%, compared to 5.7, 8.7, and 10.8% in the laparoscopic cohort (p < 0.001). Similarly, small bowel obstruction was higher in the open compared to the laparoscopic group (open 10.4, 15.0, and 18.3% vs. laparoscopic 2.7, 4.4, and 5.5%, p < 0.001). Patients undergoing laparoscopic colorectal resection were less likely to develop ventral hernia [adjusted hazard ratio (AHR) 0.64 (95% CI 0.52, 0.80); p < 0.0001] and small bowel obstruction [AHR 0.41 (95% CI 0.31, 0.54); p < 0.0001]. CONCLUSIONS: The incidence of incisional ventral hernia and small bowel obstruction is significantly reduced in patients who undergo laparoscopic compared to open colorectal resection.


Assuntos
Colectomia/efeitos adversos , Colectomia/métodos , Hérnia Ventral/epidemiologia , Obstrução Intestinal/epidemiologia , Laparoscopia , Adulto , Idoso , Neoplasias Colorretais/cirurgia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Estudos Retrospectivos
19.
Ann Coloproctol ; 40(3): 217-224, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38946092

RESUMO

PURPOSE: Fistulotomy is considered the most effective treatment for anal fistula; however, it carries a risk of incontinence. Sphincteroplasty in the setting of fistulotomy is not standard practice due to concerns regarding healing and potential infectious complications. We aimed to compare the outcomes of patients who underwent fistulotomy with primary sphincteroplasty to those who did not undergo repair. METHODS: This was a retrospective review of consecutive patients who underwent fistulotomy for cryptoglandular anal fistula. All operations were performed by one colorectal surgeon. Sphincteroplasty was performed for patients perceived to be at higher risk for continence disturbance. The main outcome measures were the healing rate and postoperative septic complications. RESULTS: In total, 152 patients were analyzed. Group A (fistulotomy with sphincteroplasty) consisted of 45 patients and group B (fistulotomy alone) included 107 patients. Both groups were similar in age (P=0.16) and sex (P=0.20). Group A had higher proportions of multiple fistulas (26.7% vs. 6.5%, P<0.01) and complex fistulas (mid to high transsphincteric, 37.8% vs. 10.3%; P<0.01) than group B. The median follow-up time was 8 weeks. The overall healing rate was similar in both groups (93.3% vs. 90.6%, P=0.76). No significant difference between the 2 groups was noted in septic complications (6.7% vs. 3.7%, P=0.42). CONCLUSION: Fistulotomy with primary sphincter repair demonstrated a comparable healing rate to fistulotomy alone, without an increased risk of postoperative septic complications. Further prospective randomized studies are needed to confirm these findings and to explore the functional outcomes of patients who undergo sphincteroplasty.

20.
VideoGIE ; 9(2): 99-101, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38357031

RESUMO

Video 1Endoscopic submuscular dissection as a rescue for severe fibrosis after incomplete polypectomy.

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