Mucoepidermoid carcinoma of the lacrimal gland in a patient with the CRTC1-MAML2 fusion gene

• Published in: Radiology case reports Vol. 16; no. 12; pp. 3643 - 3646
• Main Authors: Makino, Kensaku, Nakajima, Kei, Tsutsumi, Satoshi, Toriyama, Akane, Nonaka, Senshu, Okura, Hidehiro, Matsuzaka, Kenichi, Nagao, Toshitaka, Izumi, Hiroshi, Tomita, Shigeki, Ishii, Hisato
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.12.2021; Elsevier
• Subjects: Case Report; CRTC1-MAML2 fusion gene; Lacrimal gland tumor; Mucoepidermoid carcinoma; CRTC1-MAML2 fusion gene; Lacrimal gland tumor; Mucoepidermoid carcinoma
• ISSN: 1930-0433; 1930-0433
• DOI: 10.1016/j.radcr.2021.08.075

Mucoepidermoid carcinoma (MEC) of the lacrimal gland (LG) is a rare entity. A 47-year-old woman was aware of periorbital swelling for 3 months. At presentation, the patient showed periorbital swelling in the right eye. CT scan showed an isodense mass in the anterior superolateral part of the orbit. MRI delineated the mass as enhancing, extra-conal tumor appearing isointense on T1-weighted sequences, and to be of mixed intensity on T2-weighted sequences. The tumor was totally resected. Microscopically, the tumor tissue was comprised of squamous, epithelioid cells, and cells with plump and clear cytoplasm. Necrosis, neural invasion, or mitotic figures were not observed. Immunohistochemical examination revealed intense staining for cytokeratin 7. A subset of the cells was positively stained with periodic acid–Schiff and mucicarmine stains. Genetic analysis revealed the presence of the CRTC1-MAML2 fusion. The CRTC1-MAML2 fusion may be a useful indicator for the prognosis and planning of adjuvant therapy.