Hereditary Colorectal Cancer Syndromes Registry: What, How, and Why?

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.

Colorectal Cancer Risk between Mendelian and Non-Mendelian Inheritance.

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.

A Different Way to Think About Syndromes of Hereditary Colorectal Cancer.

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 ).

Contemporary surgical management of colorectal cancer in Lynch syndrome.

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.

Neoadjuvant immunotherapy in microsatellite unstable colorectal cancer: Are we in the era of nonoperative management?

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.

Surgical Repair of Postoperative Perineal Hernia: A Case for the Perineal Approach.

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).

Evaluation of Urinalysis-Based Screening for Urothelial Carcinoma in Patients With Lynch Syndrome.

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.

Nonspecific, Acute Pouchitis in Patients With Familial Adenomatous Polyposis: Less Common Than We Think.

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).

Premalignant and Malignant Perianal Lesions.

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.

Algorithm-based multidisciplinary treatment approach for rectourethral fistula.

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.

Predictors of early postoperative outcomes in 375 consecutive hepatectomies: a single-institution experience.

Although the safety of hepatic resection has improved, it is still a highly morbid procedure. A retrospective cohort of 375 patients undergoing hepatectomy (2004 to 2012) was done. All procedures were performed by a single surgeon at a tertiary center. To help identify trends over time, two subgroups were identified: Group 1 (n = 195 from October 2004 to December 2010) and Group 2 (n = 180 from January 2011 to November 2012). The two study groups had similar patient characteristics except there were more patients with cirrhosis in Group 2 (10 vs 17%, P = 0.04). A similar number of major hepatectomies was noted. Median estimated blood loss was 400 mL versus 300 mL (P = 0.04) in Group 2. Overall complications were more common in Group 1 (54 vs 45%). Fewer Grade 3 or greater Clavien complications (22 vs 13%, P = 0.04) and fewer hospital readmissions were noted in Group 2 (20 vs 8%, P = 0.002). Morbidity was associated with worse Eastern Cooperative Oncology Group (ECOG) performance status, age older than 60 years, and open surgery. Grade 3 or greater Clavien complications were also associated with age older than 60 years, higher American Society of Anesthesiologists class, and worse ECOG status and median estimated blood less greater than 400 mL. Higher Model for End-stage Liver Disease score and advanced ECOG status were correlated with mortality. Outcomes of hepatic resection improved time despite more complex patient characteristics and an equal number of major hepatectomies being performed. However, worse ECOG performance status was a major predictor of postoperative complications and increased mortality.