دورية أكاديمية
Multiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in POLE variant.
| العنوان: | Multiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in POLE variant. |
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| المؤلفون: | Miyazaki H; Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kawaramachi Hirokoji Kamigyo-ku, Kyoto, 602-8566, Japan., Dohi O; Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kawaramachi Hirokoji Kamigyo-ku, Kyoto, 602-8566, Japan. osamu-d@koto.kpu-m.ac.jp., Maeda E; Department of Obstetrics and Gynecology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan., Tomioka A; Department of Gastroenterology, Fujita Gastroenterological Hospital, Takatsuki, Osaka, Japan., Yoshida N; Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kawaramachi Hirokoji Kamigyo-ku, Kyoto, 602-8566, Japan., Morinaga Y; Department of Surgical Pathology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan., Itoh Y; Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kawaramachi Hirokoji Kamigyo-ku, Kyoto, 602-8566, Japan., Ishikawa H; Department of Molecular-Targeting Cancer Prevention, Kyoto Prefectural University of Medicine, Kyoto, Japan. |
| المصدر: | Clinical journal of gastroenterology [Clin J Gastroenterol] 2024 Jun; Vol. 17 (3), pp. 425-428. Date of Electronic Publication: 2024 Feb 22. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Japan Country of Publication: Japan NLM ID: 101477246 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-7265 (Electronic) Linking ISSN: 18657265 NLM ISO Abbreviation: Clin J Gastroenterol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Tokyo] : Springer Japan |
| مواضيع طبية MeSH: | Duodenal Neoplasms*/genetics , Duodenal Neoplasms*/pathology , Poly-ADP-Ribose Binding Proteins*/genetics , DNA Polymerase II*/genetics, Humans ; Adult ; Female ; Endoscopy, Digestive System ; Neoplasms, Multiple Primary/genetics ; Germ-Line Mutation |
| مستخلص: | Polymerase proofreading-associated polyposis (PPAP) is a rare disease with autosomal-dominant inheritance caused by germline variants in the POLE and POLD1 genes. PPAP has been reported to increase the risk of multiple cancers, including colon, duodenal, and endometrial cancers. Herein, we report a case in which multiple duodenal tumors led to the detection of a POLE mutation. A 43-year-old woman underwent esophagogastroduodenoscopy (EGD). Multiple duodenal tumors were detected, and all lesions were treated endoscopically. The patient had a history of multiple colorectal cancers and endometrial cancer along with a family history of cancer; hence, genetic testing was performed, and POLE variant, c.1270C > G (p.Leu424Val) was detected. Hereditary colorectal cancer syndromes should be considered in patients with colorectal cancer who have multiple cancers or a family history of cancer, and multigene panel sequencing is useful in confirming the diagnosis. In addition, duodenal tumors frequently coexist in patients with PPAP-carrying POLE variants, while the endoscopic treatment for duodenal tumors becomes safe and useful with several new approaches. Therefore, surveillance EGD is necessary in such patients for the early detection and treatment of duodenal tumors. (© 2024. Japanese Society of Gastroenterology.) |
| التعليقات: | Erratum in: Clin J Gastroenterol. 2024 Jun;17(3):429. doi: 10.1007/s12328-024-01951-w. (PMID: 38492194) |
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| فهرسة مساهمة: | Keywords: Duodenal tumor; Hereditary colorectal cancer syndrome; Polymerase proofreading-associated polyposis |
| المشرفين على المادة: | 0 (Poly-ADP-Ribose Binding Proteins) EC 2.7.7.7 (DNA Polymerase II) EC 2.7.7.7 (POLE protein, human) |
| تواريخ الأحداث: | Date Created: 20240222 Date Completed: 20240525 Latest Revision: 20240709 |
| رمز التحديث: | 20240709 |
| DOI: | 10.1007/s12328-024-01922-1 |
| PMID: | 38386255 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1865-7265 |
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| DOI: | 10.1007/s12328-024-01922-1 |