Malignant Esophageal Glomus Tumor With CARMN::NOTCH2 Fusion: An Additional Tumor Underscoring the Frequent Tendency of Esophageal Glomus Tumors for Aggressive Behavior
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, kazuistiky
- Klíčová slova
- NOTCH2, esophagus, glomus tumor, malignant,
- MeSH
- ezofágus patologie chirurgie diagnostické zobrazování MeSH
- fatální výsledek MeSH
- fúzní onkogenní proteiny * genetika MeSH
- glomangiom * genetika patologie diagnóza MeSH
- lidé MeSH
- mladý dospělý MeSH
- nádorové biomarkery genetika analýza MeSH
- nádory jícnu * patologie genetika diagnóza MeSH
- receptor Notch2 * genetika MeSH
- Check Tag
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- fúzní onkogenní proteiny * MeSH
- nádorové biomarkery MeSH
- NOTCH2 protein, human MeSH Prohlížeč
- receptor Notch2 * MeSH
Malignant glomus tumors are rare tumors of pericytic origin with a propensity to develop in the upper gastrointestinal tract. Hereby we demonstrate a tumor of a 20-year-old man, who presented with dysphagia and an exophytic esophageal mass. Histologic examination of the resected mass revealed a multinodular tumor in the esophageal wall composed of epithelioid cells showing nesting and monomorphic atypia, staghorn vessels and scanty stroma. Immunohistochemically, the neoplastic cells were positive for SMA, and H-caldesmon, while desmin was negative. Collagen IV and laminin decorated a dense intercellular basal membrane meshwork. RNA-sequencing using TruSight RNA Pan-Cancer Panel revealed a CARMN::NOTCH2 fusion, that is a recurrent, frequently described and so far specific genetic alteration in glomus tumors. In spite of the adjuvant chemotherapy regimens, the patient died of disseminated metastatic disease 2 years after the diagnosis. Our patient presentation and the previous reports in the literature highlight the frequently aggressive behavior of glomus tumors arising in the esophagus.
Bioptical Laboratory Ltd Pilsen Czechia
Department of Pathology Faculty of Medicine in Plzen Charles University Plzen Czechia
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