1. Esophageal plexiform fibromyxoma: A case report with molecular analysis for MALAT1-GLI1 fusion.
- Author
-
Higashi, Michiyo, Hamada, Taiji, Sasaki, Ken, Tsuruda, Yusuke, Shimonosono, Masataka, Kitazono, Ikumi, Kirishima, Mari, Tasaki, Takashi, Noguchi, Hirotsugu, Tabata, Kazuhiro, Hisaoka, Masanori, Fukukura, Yoshihiko, Ohtsuka, Takao, and Tanimoto, Akihide
- Subjects
- *
FIBROMAS , *GASTROINTESTINAL stromal tumors , *GASTROINTESTINAL tumors , *IMMUNOHISTOCHEMISTRY , *C-kit protein , *GASTROINTESTINAL system - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF