Novel detection of the CAMTA1-WWTR1 fusion gene in extra-adrenal myelolipoma-like lesion: a case report

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 yell...

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Bibliographic Details
Published in:Virchows Archiv : an international journal of pathology 2022-03, Vol.480 (3), p.707-712
Main Authors: Watanabe, Hirofumi, Murakami, Kazuhiro, Motoi, Toru, Murakami, Keigo, Aoyama, Yayoi, Mitomo, Hideki, Ishibashi, Naoya, Sugawara, Takashi, Tabata, Toshiharu, Matsuura, Tomonori, Sasano, Hironobu, Nakamura, Yasuhiro
Format: Article
Language:English
Subjects:
Adrenal Gland Neoplasms - genetics
Adult
Bone marrow
Brief Report
Calcium-Binding Proteins - genetics
Case reports
Child
Computed tomography
Cords
Endothelial cells
Endothelial Cells - pathology
Fluorescence in situ hybridization
Fusion protein
Hemangioendothelioma, Epithelioid - pathology
Humans
In Situ Hybridization, Fluorescence
Intracellular Signaling Peptides and Proteins - metabolism
Lesions
Lipoma
Male
Malignancy
Mediastinum
Medicine
Medicine & Public Health
Myelolipoma - genetics
Pathology
Trans-Activators - genetics
Transcription Factors - genetics
Transcriptional Coactivator with PDZ-Binding Motif Proteins
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Summary: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.
ISSN:0945-6317
1432-2307
DOI:10.1007/s00428-021-03143-0