Division of Oral and Maxillofacial Pathology, School of Dentistry, University of Minnesota, 515 Delaware Street SE #16-116B, Minneapolis, MN, 55455, USA.
Department of Laboratory Medicine and Pathology, Children's Minnesota, Minneapolis, MN, USA.
Head Neck Pathol. 2021 Mar;15(1):374-380. doi: 10.1007/s12105-020-01189-1. Epub 2020 Jun 5.
An example of a mandibular rhabdomyosarcoma in a 15-year-old male is described featuring EWSR1-TFCP2 fusion with homolateral lymph node metastasis and apparent metastasis to the thoracic vertebra T7. This type of rhabdomyosarcoma has preference for the craniofacial skeleton. Histologically, the tumor was composed of spindle and epithelioid cells characterized by nuclear pleomorphism, cytologic atypia and brisk mitotic activity. Immunohistochemically, it featured diffuse positive nuclear staining MYOD1, only focal staining for myogenin and patchy cytoplasmic staining for desmin. Tumor cells were positive for keratins and nuclear staining for SATB2 was also observed. Interestingly, tumor cells were diffusely positive for calponin. Currently, the patient is under chemotherapy treatment.
描述了一例发生于 15 岁男性的下颌部横纹肌肉瘤，具有 EWSR1-TFCP2 融合，同侧淋巴结转移，明显转移至胸 7 椎体。这种类型的横纹肌肉瘤偏爱颅面骨骼。组织学上，肿瘤由梭形和上皮样细胞组成，具有核多形性、细胞学异型性和活跃的有丝分裂活性。免疫组化染色，MYOD1 核弥漫阳性，myogenin 仅局灶阳性，desmin 呈灶性胞质阳性。肿瘤细胞角蛋白阳性，SATB2 核染色也可见。有趣的是，肿瘤细胞弥漫性 calponin 阳性。目前，患者正在接受化疗。
