フククラ　ヨシヒコ   Yoshihiko Fukukura   福倉　良彦    所属   川崎医科大学  医学部 臨床医学　機能・代謝画像診断学    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Esophageal plexiform fibromyxoma: A case report with molecular analysis for MALAT1-GLI1 fusion.
掲載誌名	正式名：Pathology, research and practice ISSNコード：16180631/03440338
掲載区分	国外
巻・号・頁	233,pp.153878-1221
著者・共著者	Higashi M, Hamada T, Sasaki K, Tsuruda Y, Shimonosono M, Kitazono I, Kirishima M, Tasaki T, Noguchi H, Tabata K, Hisaoka M, Fukukura Y, Ohtsuka T, Tanimoto A
発行年月	2022/05
概要	Plexiform fibromyxoma (PFM) is a rare gastrointestinal tract tumor that develops in the stomach in most cases. Here, we report an extremely rare case of esophageal PFM. A female in her mid-30 s presented with difficulty in swallowing and breathing. Endoscopic examination revealed a submucosal tumor measuring approximately 45 × 50 mm in the upper thoracic esophagus. The biopsied specimen did not show definite histological evidence of gastrointestinal stromal tumors (GISTs). Since imatinib administration based on a clinical diagnosis of GIST did not show a therapeutic effect for tumor reduction, tumor resection was performed. The resected tumor exhibited proliferation of spindle tumor cells with abundant myxoid and vascular stroma separated by a muscular layer, indicating a plexiform arrangement. Immunohistochemical analysis demonstrated that the tumor cells diffusely expressed vimentin and alpha-smooth muscle actin, but not desmin, c-kit, DOG1, and CD34. MALAT1-GLI1 fusion was detected in formalin-fixed paraffin-embedded tissue using RT-PCR and Sanger sequencing. The results suggested that a fibromyxoid tumor can develop in the esophagus, showing an identical histology and MALAT1-GLI1 fusion to gastric PFM.