Cytogenetics of primary embryonal rhabdomyosarcoma of the cheek

Abstract Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour of childhood and has two main subtypes: embryonal and alveolar. The embryonal subtype accounts for most cases in the genitourinary tract and head and neck. Oral presentations are rare, and mainly in the tongue, palate, or cheek. Cytogenetically, alveolar RMS is characterised by the translocation t(2;13)(q35;q14), which plays an important part in diagnosis, but no consistent and unique genetic alterations have been identified in embryonal RMS. It is currently not known whether oral embryonal RMS is similar to those that arise from other sites, as only one cytogenetic report has been published to date. We present the case of a 9-year-old boy with embryonal RMS of the cheek, and discuss the cytogenetic alterations in his case.