Esophageal plexiform fibromyxoma: A case report with molecular analysis for MALAT1-GLI1 fusion.
Pathol Res Pract
; 233: 153878, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35397317
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.
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MEDLINE
Assunto principal:
Neoplasias de Tecidos Moles
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Tumores do Estroma Gastrointestinal
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Neoplasias do Sistema Digestório
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Fibroma
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RNA Longo não Codificante
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article