Detection of GJA4 Mutation in a Sinonasal Angioleiomyoma

Background Angioleiomyomas are ubiquitous perivascular tumors, and harbor recurrent GJA4 mutations identified in the orbitary and dural locations. Herein, we reported for the first time a sinonasal angioleiomyoma presenting this typical genetic alteration. Case Presentation A 76‐year‐old man with an unremarkable medical history presented with a chronic nasal obstruction for more than 6 months. Computerized tomodensitometry and magnetic resonance imaging showed a lesion measuring 4 cm, arising from the right middle turbinate with partial enhancement following gadolinium administration. Total endoscopic resection was performed. Histopathologically, the lesion consisted of aggregates of abnormally enlarged vascular cavities, separated by thick uneven fibrous septa and lined by a single layer of endothelial cells stained by the CD34 antibody. The endothelial cells did not present atypia, mitotic activity, or plump epithelioid cytology. There were some myxoid changes and adipocytic metaplasia. Immunostainings for smooth muscular actin and h‐caldesmon showed muscular layers of varying thickness surrounding the vascular cavities. Genetic analyses revealed the presence of the variant p.Gly41Cys in the GJA4 gene. A diagnosis of angioleiomyoma (cavernous subtype) was made. One month after the surgery, the patient was well, without any residual symptoms. Conclusions The current case represents, to our knowledge, the first angioleiomyoma with a GJA4 mutation in the sinonasal tract. Main vascular and perivascular tumors of the sinonasal tract are represented by the hemangioma, the glomangiopericytoma, and the angiosarcoma, to which can be added the angiofibroma, belonging to the fibroblastic neoplasms. Consequently, in this location, the angioleiomyoma is probably misdiagnosed. Further reports and studies are needed to determine the frequency of this mutation in the sinonasal tract and its correlation with histopathological subtype.