1. Extent of Pedigree Required to Screen for and Diagnose Hereditary Nonpolyposis Colorectal Cancer: Comparison of Simplified and Extended Pedigrees
- Author
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Min Hyun Kim, Seung Bum Ryoo, Duck Woo Kim, Yoonjung Heo, Myung Jo Kim, Sukyung Bang, Heung Kwon Oh, Seung-Yong Jeong, Ji Won Park, Sung Il Kang, Sang A. Lee, Sung Bum Kang, and Kyu Joo Park
- Subjects
Adult ,Male ,Proband ,medicine.medical_specialty ,Colorectal cancer ,Population ,Pedigree chart ,Adenocarcinoma ,Tertiary care ,03 medical and health sciences ,0302 clinical medicine ,Prevalence ,medicine ,Humans ,Mass Screening ,Medical History Taking ,education ,Aged ,Gynecology ,education.field_of_study ,business.industry ,Gastroenterology ,Cancer ,General Medicine ,Middle Aged ,medicine.disease ,Colorectal Neoplasms, Hereditary Nonpolyposis ,Sindrome de ,Lynch syndrome ,Pedigree ,Cross-Sectional Studies ,030220 oncology & carcinogenesis ,Female ,Microsatellite Instability ,030211 gastroenterology & hepatology ,Colorectal Neoplasms ,business - Abstract
BACKGROUND Obtaining an accurate pedigree is the first step in recognizing a patient with hereditary nonpolyposis colorectal cancer, or Lynch syndrome. However, lack of standardization of the degree of relationship included in the pedigrees generally limits obtaining a complete and/or accurate pedigree. DESIGN This study analyzed the extent of pedigree required to screen for colorectal cancer and to diagnose Lynch syndrome. SETTINGS The study was conducted at 2 tertiary care centers. PATIENTS A detailed family history was obtained from patients undergoing surgery for colorectal cancer from 2003 to 2016. A simplified pedigree that included only first-degree relatives was obtained and compared with the extended pedigree. MAIN OUTCOME MEASURES The eligibility of the 2 pedigrees was assessed for each proband. The proportion of patients who would be missed using a simplified rather than an extended pedigree was calculated based on the American Cancer Society guidelines for recommending screening for colorectal cancer, on the revised Bethesda guidelines and the revised suspected hereditary nonpolyposis colorectal cancer criteria for screening for hereditary colorectal cancer, and on the Amsterdam II criteria for diagnosis of Lynch syndrome. RESULTS The study examined 2015 families, including 41,826 individuals. Use of simplified and extended pedigrees was comparable in screening for colorectal cancer, with ratios of 183 of 185 (98.9%) for American Cancer Society guidelines, 295 of 295 (100%) for revised Bethesda guidelines, and 60 of 60 (100%) for revised suspected hereditary nonpolyposis colorectal cancer criteria. However, the use of simplified pedigrees missed a definitive diagnosis of Lynch syndrome in 6 of 10 patients fulfilling Amsterdam II criteria based on extended pedigrees. The mean ages at diagnosis of the 4 probands included and the 6 missed using simplified pedigrees differed significantly (60.8 vs 38.2 y). LIMITATIONS The study was limited by its recall bias, cross-sectional nature, lack of germline testing, and potential inapplicability to the general population. CONCLUSIONS A simplified pedigree is acceptable for selecting candidates to screen for hereditary colorectal cancer, whereas an extended pedigree is still required for a more precise diagnosis of Lynch syndrome, especially in younger patients. See Video Abstract at http://links.lww.com/DCR/B97. EXTENSION DE PEDIGREE REQUERIDO EN LA DETECCION Y DIAGNOSTICO DE CANCER COLORRECTAL HEREDITARIO SIN POLIPOSIS: COMPARACION DE LOS PEDIGREES SIMPLIFICADO Y EL EXTENDIDO: La obtencion de un Pedigree exacto es el primer paso para reconocer un paciente con cancer colorrectal hereditario sin poliposis o sindrome de Lynch. Sin embargo, la falta de estandarizacion del grado de relacion incluido en los Pedigrees generalmente limita la obtencion de un Pedigree completo y / o preciso.Este estudio analizo el grado de Pedigree requerido para detectar el cancer colorrectal y diagnosticar el sindrome de Lynch.Se obtuvo una historia familiar detallada de pacientes sometidos a cirugia por cancer colorrectal desde 2003 hasta 2016. Se obtuvo tambien un Pedigree simplificado que incluia solo familiares de primer grado y se comparo con el Pedigree extendido.La elegibilidad de los dos Pedigrees se evaluo para cada sujeto de prueba (proband). La proporcion de pacientes que se perderian usando un Pedigree simplificado en lugar de extendido se calculo en base a las guias de la Sociedad Americana del Cancer y sus recomendaciones en la deteccion de cancer colorrectal, en las pautas revisadas de Bethesda y en los criterios revisados de cancer colorrectal hereditario sin poliposis para la deteccion hereditaria de cancer colorrectal y segun las normas de Amsterdam II para el diagnostico del sindrome de Lynch.El estudio examino a 2.015 familias, incluidas 41.826 personas. El uso de Pedigree simplificado y extendido fue comparable en la deteccion del cancer colorrectal, con proporciones de 183/185 (98,9%) comparadas con las recomendaciones de la American Cancer Society, 295/295 (100%) para las pautas revisadas de Bethesda y 60/60 (100%) para los criterios revisados de sospecha de cancer colorrectal hereditario sin poliposis. Sin embargo, el uso de Pedigree simplificado omitio un diagnostico definitivo del sindrome de Lynch en 6 de diez pacientes que cumplian las normas de Amsterdam II basados en Pedigrees extendidos. Las edades medias al diagnostico de los cuatro sujetos de prueba incluidos y los seis perdidos usando el Pedigree simplificado diferian significativamente (60.8 vs. 38.2 anos).Un Pedigre simplificado es aceptable en la seleccion de candidatos para la deteccion de cancer colorrectal hereditario, mientras que aun se requiere un Pedigree extendido para un diagnostico mas preciso de sindrome de Lynch, especialmente en pacientes mas jovenes. Consulte Video Resumen en http://links.lww.com/DCR/B97. (Traduccion-Dr. Edgar Xavier Delgadillo).
- Published
- 2020
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