Novel detection of the CAMTA1-WWTR1 fusion gene in extra-adrenal myelolipoma-like lesion: a case report
| Autor: | Hideki Mitomo, Hirofumi Watanabe, Yayoi Aoyama, Takashi Sugawara, Naoya Ishibashi, Keigo Murakami, Toshiharu Tabata, Hironobu Sasano, Yasuhiro Nakamura, Toru Motoi, Kazuhiro Murakami, Tomonori Matsuura |
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| Rok vydání: | 2021 |
| Předmět: |
Myelolipoma
Adult Male Pathology medicine.medical_specialty Adrenal Gland Neoplasms Malignancy Pathology and Forensic Medicine Lesion medicine Humans Molecular Biology Epithelioid hemangioendothelioma In Situ Hybridization Fluorescence medicine.diagnostic_test business.industry Calcium-Binding Proteins Intracellular Signaling Peptides and Proteins Mediastinum Endothelial Cells Cell Biology General Medicine medicine.disease medicine.anatomical_structure Transcriptional Coactivator with PDZ-Binding Motif Proteins Trans-Activators Hemangioendothelioma Epithelioid Bone marrow Lipoma medicine.symptom business Epithelioid cell Fluorescence in situ hybridization Transcription Factors |
| Zdroj: | Virchows Archiv : an international journal of pathology. 480(3) |
| ISSN: | 1432-2307 |
| Popis: | A mediastinal mass was incidentally detected by chest X-ray in a 44-year-old man. Computed tomography findings revealed that the mass was a possible malignancy in the right and middle mediastinum and was removed by surgical resection. Macroscopically, the resected specimen was a well-demarcated yellowish, brownish, and whitish mass. Microscopically, a solid lesion with cords of epithelioid cells in the extra-adrenal myelolipoma-like lesion was observed. Immunohistochemically, the solid lesion was positive for typical vascular markers and CAMTA1, the expression of which is highly specific for epithelioid hemangioendothelioma (EHE). The endothelial cells and bone marrow elements of myelolipoma-like lesion were also positive for CAMTA1. Fluorescence in situ hybridization examination detected the CAMTA1-WWTR1 fusion gene not only in the solid lesion but also in the endothelial cells and bone marrow elements of myelolipoma-like lesion. To our knowledge, this is the first report suggesting common genetic abnormality, CAMTA1-WWTR1 fusion, in cases of EHE and extra-adrenal myelolipoma. |
| Databáze: | OpenAIRE |
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