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Gene mutations in stool from gastric and colorectal neoplasia patients by next-generation sequencing

World Journal of Gastroenterology 2017年第47期23卷 8291-8299页

作者： Omar Youssef Virinder Sarhadi Homa Ehsan Tom Bohling Monika Carpelan-Holmstrom Selja Koskensalo Pauli Puolakkainen Arto Kokkola Sakari Knuutila Department of Pathology Faculty of MedicineUniversity of Helsinki Department of Pathology University of Helsinki and HUSLABHelsinki University Hospital The HUCH Gastrointestinal Clinic University Central Hospital of Helsinki

AIM To study cancer hotspot mutations by next-generation sequencing(NGS) in stool DNA from patients with different gastrointestinal tract(GIT) neoplasms. METHODS Stool samples were collected from 87 Finnish patients diagnosed with various gastric and colorectal neoplasms, including benign tumors, and from 14 healthy controls. DNA was isolated from stools by usingthe PSP~? Spin Stool DNA Plus Kit. For each sample, 20 ng of DNA was used to construct sequencing libraries using the Ion AmpliS eq Cancer Hotspot Panel v2 or Ion AmpliS eq Colon and Lung Cancer panel v2. Sequencing was performed on Ion PGM. Torrent Suite Software v.5.2.2 was used for variant calling and data *** NGS was successful in assaying 72 GIT samples and 13 healthy controls, with success rates of the assay being78% for stomach neoplasia and 87% for colorectal tumors. In stool specimens from patients with gastric neoplasia, five hotspot mutations were found in APC,CDKN2 A and EGFR genes, in addition to seven novel mutations. From colorectal patients, 20 mutations were detected in AKT1, APC, ERBB2, FBXW7, KIT, KRAS,NRAS, SMARCB1, SMO, STK11 and TP53. Healthy controls did not exhibit any hotspot mutations, except for two novel ones. APC and TP53 were the most frequently mutated genes in colorectal neoplasms, with five mutations, followed by KRAS with two *** was the most commonly mutated gene in stools of patients with premalignant/benign GIT *** Our results show that in addition to colorectal neoplasms,mutations can also be assayed from stool specimens of patients with gastric neoplasms.

关键词： Stool DNA Next-generation sequencing Mutations gastric neoplasia Colorectal neoplasia

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Risk for gastric neoplasias in patients with chronic atrophic gastritis:A critical reappraisal

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World Journal of Gastroenterology 2012年第12期18卷 1279-1285页

作者： Lucy Vannella Edith Lahner Bruno Annibale Dipartimento Medico-Chirurgico di Scienze Cliniche Tecnobiomediche e Medicina TraslazionaleSant'Andrea HospitalSchool of MedicineUniversity Sapienza

Chronic atrophic gastritis （CAG） is an inflammatory condition characterized by the loss of gastric glandular structures which are replaced by connective tissue （non-metaplastic atrophy） or by glandular structures inappropriate for location （metaplastic atrophy）. Epidemiological data suggest that CAG is associated with two different types of tumors： Intestinal-type gastric cancer （GC） and type I gastric carcinoid （T I GC）. The pathophysiological mechanisms which lead to the development of these gastric tumors are different, It is accepted that a multistep process initiating from Helico- bacterpylori-related chronic inflammation of the gastric mucosa progresses to CAG, intestinal metaplasia, dysplasia and, finally, leads to the development of GC. The T I GC is a gastrin-dependent tumor and the chronic elevation of gastrin, which is associated with CAG, stimulates the growth of enterochromaffin-like cells with their hyperplasia leading to the development of T I GC. Thus, several events occur in the gastric mucosa before the development of intestinatype GC and/ or T I GC and these take several years. Knowledge ofCAG incidence from superficial gastritis, its prevalence in different clinical settings and possible risk factors as- sociated with the progression of this condition to gastric neoplasias are important issues. This editorial intends to provide a brief review of the main studies regarding incidence and prevalence of CAG and risk factors for the development of gastric neoplasias.

关键词： Chronic atrophic gastritis gastric neoplasia Intestinal-type gastric cancer Type I gastric carcinoid Prevalence Incidence Risk factors

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