Spindle cell rhabdomyosarcoma is an uncommon subtype of embryonal rhabdomyosarcoma. Found almost exclusively in children, these tumors are classically located in the paratesticular and head and neck regions. Morphologically these lesions can resemble several other benign or malignant soft-tissue spindle cell lesions, especially smooth muscle or myofibroblastic tumors, and thus immunohistochemical staining is often needed to prove skeletal muscle differentiation. Although there is extensive literature reporting the genetics of embryonal rhabdomyosarcoma, little is reported specific to the spindle cell subtype. Below we present the case of a 7-month-old male presenting with a large posterior neck mass that was diagnosed as spindle cell rhabdomyosarcoma. Karyotype evaluation revealed a t(6;8) (p12;q11.2) chromosomal translocation within the lesion. We review the histologic and immunohistochemical diagnosis of these tumors and discuss the genetics of rhabdomyoscarcomas.

译文

梭形细胞横纹肌肉瘤是胚胎性横纹肌肉瘤的一种罕见亚型。这些肿瘤几乎只在儿童中发现,通常位于睾丸旁和头颈部区域。从形态上讲,这些病变可能类似于其他几种良性或恶性软组织梭形细胞病变,尤其是平滑肌或肌纤维母细胞瘤,因此通常需要免疫组织化学染色来证明骨骼肌的分化。尽管有大量文献报道了胚胎横纹肌肉瘤的遗传学,但很少有针对梭形细胞亚型的报道。下面我们介绍一名7个月大的男性,其后颈部肿块较大,被诊断为梭形细胞横纹肌肉瘤。核型评估显示病变内有t(6;8) (p12;q11.2) 染色体易位。我们回顾了这些肿瘤的组织学和免疫组织化学诊断,并讨论了横纹肌肉瘤的遗传学。

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