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

Hirofumi Watanabe, Kazuhiro Murakami, Toru Motoi, Keigo Murakami, Yayoi Aoyama, Hideki Mitomo, Naoya Ishibashi, Takashi Sugawara, Toshiharu Tabata, Tomonori Matsuura, Hironobu Sasano, Yasuhiro Nakamura

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalVirchows Archiv
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • CAMTA1-WWTR1 fusion gene
  • Epithelioid hemangioendothelioma
  • Extra-adrenal myelolipoma
  • Mediastinum

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

Fingerprint

Dive into the research topics of 'Novel detection of the CAMTA1-WWTR1 fusion gene in extra-adrenal myelolipoma-like lesion: a case report'. Together they form a unique fingerprint.

Cite this