Manor Esther, Joshua Ben-Zion, Nash Michael, Brennan Peter A, Bodner Lipa
Institute of Human Genetics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Br J Oral Maxillofac Surg. 2012 Dec;50(8):788-90. doi: 10.1016/j.bjoms.2011.12.012. Epub 2012 Jan 25.
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.
横纹肌肉瘤(RMS)是儿童期最常见的恶性软组织肿瘤,主要有两种亚型:胚胎型和肺泡型。胚胎型亚型在泌尿生殖道及头颈部最为常见。口腔表现较为罕见,主要发生于舌、腭或颊部。细胞遗传学上,肺泡型RMS的特征是t(2;13)(q35;q14)易位,这在诊断中起重要作用,但胚胎型RMS尚未发现一致且独特的基因改变。目前尚不清楚口腔胚胎型RMS是否与其他部位发生的相似,因为迄今为止仅发表了一份细胞遗传学报告。我们报告一例9岁颊部胚胎型RMS男孩病例,并讨论其细胞遗传学改变。