D1359Y mutation in a patient with gastric polyposis and cancer susceptibility: A case report and review of literature.

Jeffrey Peng Huang, Johnson Lin, Chi-Yuan Tzen, Wen-Yu Huang, Chia-Chi Tsai, Chih-Jen Chen, Yen-Jung Lu, Kuei-Fang Chou, Ying-Wen Su

Journal: World journal of gastroenterology 2019;24(38):4412-4418

PMID: 30344425

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Abstract

Gastric polyposis is a rare disease. Not all polyps progress to cancer. Monoallelic mutation in Fanconi anemia (FA) genes, unlike biallelic gene mutations that causes typical FA phenotype, can increase risks of cancers in a sporadic manner. Aberrations in the FA pathway were reported in all molecular subtypes of gastric cancer. We studied a patient with synchronous gastric cancer from gastric polyposis by conducting a 13-year long-term follow up. pathway-driven massive parallel genomic sequencing, a germline mutation at D1359Y was identified. We identified several recurrent mutations in DNA methylation (, V873I), the β-catenin pathway (, S45F) and RHO signaling pathway (, R203C) by comparing the genetic events between benign and malignant gastric polyps. Furthermore, we revealed gastric polyposis susceptible genes and genetic events promoting malignant transformation using pathway-driven targeted gene sequencing.

Address: Division of Hematology and Medical Oncology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei 10491, Taiwan.; Department of Pathology, Mackay Memorial Hospital, Taipei 10491, Taiwan.; Laboratory of Good Clinical Research Center, Mackay Memorial Hospital, Tamsui Branch, New Taipei City 25160, Taiwan.; Department of General Surgery, Mackay Memorial Hospital, Taipei 10491, Taiwan.; Division of Gastroenterology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei 10491, Taiwan.; ACT Genomics Co., Ltd., Taipei 11494, Taiwan.

DOI: 10.3748/wjg.v24.i38.4412

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Medical:

https://medlineplus.gov/stomachcancer.html

Miscellaneous:

https://assays.cancer.gov/CPTAC-1745

MeSH Terms: Adenomatous Polyps, Aged, Anemia, Iron-Deficiency, Biopsy, DNA Mutational Analysis, Fanconi Anemia Complementation Group A Protein, Gastrectomy, Gastrointestinal Hemorrhage, Gastroscopy, Genetic Predisposition to Disease, Humans, Jejunal Neoplasms, Jejunum, Male, Mutation, Stomach, Stomach Neoplasms, Tomography, X-Ray Computed