Genomic and immunohistochemical characterisation of a lacrimal gland oncocytoma and review of literature

Mikkelsen,Lauge  Hjorth; Andreasen,Simon; Melchior,Linea  Cecilie; Persson,Marta; Andersen,Jeppe  Dyrberg; Pereira,Vania; Toft,Peter  Bjerre; Morling,Niels; Stenman,Göran; Heegaard,Steffen

doi:10.3892/ol.2017.6713

Genomic and immunohistochemical characterisation of a lacrimal gland oncocytoma and review of literature

Authors:
- Lauge Hjorth Mikkelsen
- Simon Andreasen
- Linea Cecilie Melchior
- Marta Persson
- Jeppe Dyrberg Andersen
- Vania Pereira
- Peter Bjerre Toft
- Niels Morling
- Göran Stenman
- Steffen Heegaard
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Affiliations: Department of Pathology, Rigshospitalet, Copenhagen University Hospital, 2100 Copenhagen, Denmark, Department of Otorhinolaryngology and Maxillofacial Surgery, Zealand University Hospital, 4600 Køge, Denmark, Department of Pathology and Genetics, Sahlgrenska Cancer Center, University of Gothenburg, 40530 Gothenburg, Sweden, Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, 2100 Copenhagen, Denmark, Department of Ophthalmology, Rigshospitalet, Copenhagen University Hospital, 2100 Copenhagen, Denmark
Published online on: August 3, 2017 https://doi.org/10.3892/ol.2017.6713
Pages: 4176-4182
Copyright: © Mikkelsen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of the present study was to report the genetic and immunohistochemical profile of a rare case of lacrimal gland oncocytoma. A 20-year-old male underwent magnetic resonance imaging (MRI) due to viral encephalitis. Notably, the MRI revealed a multicystic tumor in the left lacrimal gland. A lateral orbitotomy was performed and the tumor was completely excised. Four months following surgery, the patient was free of symptoms. Histopathologically, the tumor was composed of large, eosinophilic and polyhedral cells with small round nuclei. The tumor cells stained strongly for antimitochondrial antibody MU213‑UC, cytokeratin (CK) 5/6, CK 7, CK 17, CK 8/18 and CK 19. The final diagnosis was an oncocytoma of the lacrimal gland without any signs of malignancy. Array‑based comparative genomic hybridisation demonstrated a gain of one copy of chromosome 8 and loss of one copy of chromosome 22 as the sole genomic imbalances. These chromosomal alterations have not previously been identified in oncocytoma and may be specific to lacrimal gland oncocytoma. Sequencing of the mitochondrial genome demonstrated multiple alterations of the NADH‑ubiquinone oxidoreductase chain 5 (ND5) gene involved in mitochondrial oxidative phosphorylation. This may support the notion of a common genetic background of oncocytic lesions in the lacrimal gland and other anatomical sites.

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