BACKGROUND: Lynch syndrome (LS; hereditary nonpolyposis colorectal cancer) is a common cause of hereditary colorectal cancer (CRC). CRC is the most common cancer diagnosed among males in Saudi Arabia but to the authors' knowledge there is a lack of data regarding the prevalence of LS in patients with CRC. There currently are no clear guidelines for the selection criteria for these patients to screen for LS. METHODS: A comprehensive molecular characterization was performed in a cohort of 807 CRC cases by immunohistochemical and microsatellite analysis using polymerase chain reaction. BRAF mutation screening, high CpG island methylator phenotype, and analysis for germline mutations were performed in 425 CRC samples. These were all high microsatellite instability (MSI-H) samples (91 cases), all low MSI samples (143 cases), and selected cases from the microsatellite stable group (191 cases) that met revised Bethesda guidelines. RESULTS: Polymerase chain reaction identified 91 MSI-H cases (11.3%) and sequencing revealed mismatch repair germline mutations in 8 CRC cases only. Of the total of 807 CRC cases, these 8 cases (0.99%) were MSI-H, met the revised Bethesda guidelines, and did not harbor BRAF mutations. CONCLUSIONS: The results of the current study confirmed cases of LS in approximately 1.0% of CRC samples and reflects the efficacy of screening among MSI-H cases that lack BRAF mutations. This comprehensive study from Saudi Arabia will help in implementing a universal screening/reflex testing strategy in a clinical setting in Saudi Arabia and in conducting a national screening program that benefits both patients and their relatives.
BACKGROUND:Lynch syndrome (LS; hereditary nonpolyposis colorectal cancer) is a common cause of hereditary colorectal cancer (CRC). CRC is the most common cancer diagnosed among males in Saudi Arabia but to the authors' knowledge there is a lack of data regarding the prevalence of LS in patients with CRC. There currently are no clear guidelines for the selection criteria for these patients to screen for LS. METHODS: A comprehensive molecular characterization was performed in a cohort of 807 CRC cases by immunohistochemical and microsatellite analysis using polymerase chain reaction. BRAF mutation screening, high CpG island methylator phenotype, and analysis for germline mutations were performed in 425 CRC samples. These were all high microsatellite instability (MSI-H) samples (91 cases), all low MSI samples (143 cases), and selected cases from the microsatellite stable group (191 cases) that met revised Bethesda guidelines. RESULTS: Polymerase chain reaction identified 91 MSI-H cases (11.3%) and sequencing revealed mismatch repair germline mutations in 8 CRC cases only. Of the total of 807 CRC cases, these 8 cases (0.99%) were MSI-H, met the revised Bethesda guidelines, and did not harbor BRAF mutations. CONCLUSIONS: The results of the current study confirmed cases of LS in approximately 1.0% of CRC samples and reflects the efficacy of screening among MSI-H cases that lack BRAF mutations. This comprehensive study from Saudi Arabia will help in implementing a universal screening/reflex testing strategy in a clinical setting in Saudi Arabia and in conducting a national screening program that benefits both patients and their relatives.
Authors: K T S Aiyer; T Doeleman; N A Ryan; M Nielsen; E J Crosbie; V T H B M Smit; H Morreau; J J Goeman; T Bosse Journal: Mod Pathol Date: 2022-09-14 Impact factor: 8.209
Authors: George Kunnackal John; Vipin Das Villgran; Christine Caufield-Noll; Francis M Giardiello Journal: Fam Cancer Date: 2021-01-11 Impact factor: 2.375
Authors: George Kunnackal John; Vipin Das Villgran; Christine Caufield-Noll; Francis Giardiello Journal: Fam Cancer Date: 2020-09-11 Impact factor: 2.375
Authors: Mohammad Sina; Zeinab Ghorbanoghli; Amal Abedrabbo; Fahd Al-Mulla; Rihab Ben Sghaier; Marie-Pierre Buisine; George Cortas; Ladan Goshayeshi; Andreas Hadjisavvas; Wail Hammoudeh; Waseem Hamoudi; Carol Jabari; Maria A Loizidou; Keivan Majidzadeh-A; Makia J Marafie; Gurbankhan Muslumov; Laila Rifai; Rania Abu Seir; Suzan M Talaat; Berrin Tunca; Hadia Ziada-Bouchaar; Mary E Velthuizen; Ala I Sharara; Aysel Ahadova; Demetra Georgiou; Hans F A Vasen Journal: Fam Cancer Date: 2020-10-24 Impact factor: 2.375
Authors: Shailesh M Advani; Pragati Advani; Stacia M DeSantis; Derek Brown; Helena M VonVille; Michael Lam; Jonathan M Loree; Amir Mehrvarz Sarshekeh; Jan Bressler; David S Lopez; Carrie R Daniel; Michael D Swartz; Scott Kopetz Journal: Transl Oncol Date: 2018-07-30 Impact factor: 4.243
Authors: Tony Ibrahim; Claude Saer-Ghorra; Vivane Trak-Smayra; Samah Nadiri; Charbel Yazbeck; Maria Baz; Joseph G Kattan Journal: Ann Saudi Med Date: 2018 Jul-Aug Impact factor: 1.526