Malignant Epithelioid Mesenchymal Neoplasm with FUS::CREM Gene Fusion Arising in the Tongue: A Case Report Detailing Clinicopathological, Imaging, and Molecular Features

• Published in: Head & neck pathology (Totowa, N.J.) Vol. 18; no. 1; p. 70
• Main Authors: Suaiti, Lubna H., Faquin, William C., Dias-Santagata, Dora, Deschler, Daniel G., Juliano, Amy F., Sadow, Peter M., Alzumaili, Bayan A.
• Format: Journal Article
• Language: English
• Published: New York Springer US 05.08.2024
• Subjects: Case Report; Dentistry; Humans; Male; Medicine; Medicine & Public Health; Mesenchymoma - genetics; Mesenchymoma - pathology; Middle Aged; Oncogene Proteins, Fusion - genetics; Oral and Maxillofacial Surgery; Otorhinolaryngology; Pathology; RNA-Binding Protein FUS - genetics; Tongue Neoplasms - genetics; Tongue Neoplasms - pathology; ALK; Synaptophysin; Tongue; Malignant Epithelioid Mesenchymal Neoplasm; FUS:CREM
• DOI: 10.1007/s12105-024-01681-y
• ISSN: 1936-0568

FUS::CREM fusion is a distinct primary driver in rare neoplasms of the head and neck and other anatomic sites. Herein, we describe the clinicopathological, imaging, and molecular features of a malignant epithelioid mesenchymal neoplasm harboring FUS::CREM fusion, arising in the tongue of a 46-year-old male. Clinically, the patient presented with a left upper neck mass. Imaging revealed a 4.0 cm mass at the left base of tongue. Histologically, the tumor consisted of sheets of loosely cohesive, small round to ovoid cells with moderate cytoplasm, small nuclei with coarse chromatin, frequent nuclear pseudoinclusions, and dense peripheral lymphoplasmacytic and histiocytic infiltrates. Malignant features, including tumor necrosis, perineural invasion, and increased mitotic activity were observed; however, lymphovascular invasion was absent with no evidence metastatic disease in the examined lymph nodes. A comprehensive panel of immunohistochemical stains showed positivity for synaptophysin and ALK, with negative results for all other markers. RNA-based next-generation sequencing using anchored multiplex polymerase chain reaction (PCR) was performed and detected FUS::CREM fusion gene. The patient was treated by excision and postsurgical chemoradiation with no evidence of recurrence after four months. Additional cases supported by comprehensive clinical data collected over an extended period are necessary to precisely characterize epithelioid mesenchymal neoplasms harboring FUS::CREM fusion in the head and neck.