BACKGROUND: Lynch syndrome (LS) diagnosis is underestimated, and most of the patients remain undetected after colorectal resections. The study aims to assess the frequency of LS in patients undergoing surgical treatment for colorectal cancer (CRC). METHODS: A total of 458 CRC patients were operated from January 2005 to December 2008. Positive CRC family history (FH) was present in 118 (25.8%) patients. Histologic sections were reviewed for microsatellite instability (MSI) criteria (Bethesda guidelines), immunohistochemical (IHC) analysis for MLH1, MSH2, MSH6, PMS2 proteins, through the avidin-biotin-peroxidase complex, MSI (BAT-25, BAT-26, NR-21, NR-24 and MONO-27) and BRAF somatic mutation. RESULTS: Of the 118 patients with FH, 61 (51.69%) met at least one of the revised Bethesda criteria. IHC was abnormal in 8 (13.1%) and MSI in 12 patients (20%). BRAF was negative in all cases. MSI histopathological included: intratumoral lymphocytes (47.5%), expansive tumors (29.5%) mucinous component (27.8%) and Crohn's like reaction in (14.7%). There was an association between the revised Bethesda criteria with: sex, mucinous histology and Crohn's like reaction; MSI and IHC with PMS2 and MLH1. Revised Bethesda criteria 4 had 10.6 increased chances to display positive MSI. We have proposed a score to contribute as a practical tool in the diagnosis of LS. CONCLUSIONS: The frequence of LS in resected CRC patients was 2.6%. The criterion 4 Revised Bethesda was associated more strongly with the presence of MSI.
BACKGROUND:Lynch syndrome (LS) diagnosis is underestimated, and most of the patients remain undetected after colorectal resections. The study aims to assess the frequency of LS in patients undergoing surgical treatment for colorectal cancer (CRC). METHODS: A total of 458 CRC patients were operated from January 2005 to December 2008. Positive CRC family history (FH) was present in 118 (25.8%) patients. Histologic sections were reviewed for microsatellite instability (MSI) criteria (Bethesda guidelines), immunohistochemical (IHC) analysis for MLH1, MSH2, MSH6, PMS2 proteins, through the avidin-biotin-peroxidase complex, MSI (BAT-25, BAT-26, NR-21, NR-24 and MONO-27) and BRAF somatic mutation. RESULTS: Of the 118 patients with FH, 61 (51.69%) met at least one of the revised Bethesda criteria. IHC was abnormal in 8 (13.1%) and MSI in 12 patients (20%). BRAF was negative in all cases. MSI histopathological included: intratumoral lymphocytes (47.5%), expansive tumors (29.5%) mucinous component (27.8%) and Crohn's like reaction in (14.7%). There was an association between the revised Bethesda criteria with: sex, mucinous histology and Crohn's like reaction; MSI and IHC with PMS2 and MLH1. Revised Bethesda criteria 4 had 10.6 increased chances to display positive MSI. We have proposed a score to contribute as a practical tool in the diagnosis of LS. CONCLUSIONS: The frequence of LS in resected CRC patients was 2.6%. The criterion 4 Revised Bethesda was associated more strongly with the presence of MSI.
Authors: Miguel Serrano; Pedro Lage; Sara Belga; Bruno Filipe; Inês Francisco; Paula Rodrigues; Ricardo Fonseca; Paula Chaves; Isabel Claro; Cristina Albuquerque; António Dias Pereira Journal: Fam Cancer Date: 2012-12 Impact factor: 2.375
Authors: Mark A Jenkins; Shinichi Hayashi; Anne-Marie O'Shea; Lawrence J Burgart; Tom C Smyrk; David Shimizu; Paul M Waring; Andrew R Ruszkiewicz; Aaron F Pollett; Mark Redston; Melissa A Barker; John A Baron; Graham R Casey; James G Dowty; Graham G Giles; Paul Limburg; Polly Newcomb; Joanne P Young; Michael D Walsh; Stephen N Thibodeau; Noralane M Lindor; Loïc Lemarchand; Steven Gallinger; Robert W Haile; John D Potter; John L Hopper; Jeremy R Jass Journal: Gastroenterology Date: 2007-04-25 Impact factor: 22.682
Authors: Benedito Mauro Rossi; Edenir Inêz Palmero; Francisco López-Kostner; Carlos Sarroca; Carlos Alberto Vaccaro; Florencia Spirandelli; Patricia Ashton-Prolla; Yenni Rodriguez; Henrique de Campos Reis Galvão; Rui Manuel Reis; André Escremim de Paula; Luis Gustavo Capochin Romagnolo; Karin Alvarez; Adriana Della Valle; Florencia Neffa; Pablo German Kalfayan; Enrique Spirandelli; Sergio Chialina; Melva Gutiérrez Angulo; Maria Del Carmen Castro-Mujica; Julio Sanchez de Monte; Richard Quispe; Sabrina Daniela da Silva; Norma Teresa Rossi; Claudia Barletta-Carrillo; Susana Revollo; Ximena Taborga; L Lena Morillas; Hélène Tubeuf; Erika Maria Monteiro-Santos; Tamara Alejandra Piñero; Constantino Dominguez-Barrera; Patrik Wernhoff; Alexandra Martins; Eivind Hovig; Pål Møller; Mev Dominguez-Valentin Journal: BMC Cancer Date: 2017-09-05 Impact factor: 4.430
Authors: Jing Hao; Dina Hassen; James M Gudgeon; Susan R Snyder; Heather Hampel; Marc S Williams; Ravi N Sharaf; Christine Y Lu; Janet L Williams; Victoria Schlieder; Alanna Kulchak Rahm Journal: J Pers Med Date: 2021-12-02