Department of Pathology Tata Memorial Hospital, MUMBAI, INDIA.
Turk Patoloji Derg. 2023;39(2):154-160. doi: 10.5146/tjpath.2022.01577.
Inflammatory leiomyosarcoma (LMS) is a newly included rare tumor entity in the group of smooth muscle tumors in the recent WHO classification. Recent studies have shown skeletal muscle expression within this tumor and its proximity with histiocyte-rich rhabdomyoblastic tumor (HRRT). A 17-year-old male presented with a soft tissue lump over the back of his neck of one-year duration. Radiologically, a lesion measuring 5.9 cm in the largest dimension was seen, extending from the skull base up to the C2 vertebral level, abutting the occipital bone. The initial biopsy was reported as a fibrohistiocytic tumor at the referring laboratory. A microscopic review of the sections from the initial biopsy and subsequent resection revealed a well-circumscribed, cellular tumor composed of plump spindle and polygonal-shaped tumor cells with relatively bland nuclei, moderate to abundant eosinophilic cytoplasm and numerous interspersed histiocytes, including foam cells and lymphocytes. Immunohistochemically, the tumor cells were positive for desmin, MYOD1 and SMA, focally positive for myogenin, while negative for h-caldesmon, SOX10 and S100P. A diagnosis of inflammatory leiomyosarcoma/HRRT was offered. Subsequently, the tumor was tested for MYOD1 (L122R) mutation and was found to be negative. The patient underwent adjuvant radiation therapy and is free-of-disease at 12 months post-treatment. This case constitutes an extremely rare case of an inflammatory LMS/HRRT, identified in the neck region. This tumor should be differentiated from its close mimics, such as a spindle cell/sclerosing rhabdomyosarcoma, as the latter is treated more aggressively, including with chemotherapy, given its relatively poor prognosis.
炎性平滑肌肉瘤(LMS)是最近 WHO 分类中平滑肌肿瘤组中新增的罕见肿瘤实体。最近的研究表明,这种肿瘤具有骨骼肌表达,并与其富含组织细胞的横纹肌母细胞瘤(HRRT)接近。一名 17 岁男性因颈后一年期软组织肿块就诊。影像学检查见 5.9cm 大小的病变,从颅底延伸至 C2 椎体水平,紧贴枕骨。最初的活检报告在转诊实验室为纤维组织细胞瘤。对最初活检和随后切除的切片进行显微镜检查显示,边界清楚的细胞性肿瘤,由丰满的梭形和多边形肿瘤细胞组成,细胞核相对温和,胞浆中度至丰富嗜酸性,并有许多散在的组织细胞,包括泡沫细胞和淋巴细胞。免疫组化染色显示,肿瘤细胞弥漫性表达结蛋白、MYOD1 和 SMA,局灶性表达肌球蛋白重链,而 h-钙调蛋白、SOX10 和 S100P 阴性。诊断为炎性平滑肌肉瘤/HRRT。随后,对肿瘤进行 MYOD1(L122R)突变检测,结果为阴性。患者接受了辅助放疗,治疗后 12 个月无疾病。该病例为极其罕见的颈部炎性 LMS/HRRT,应与梭形细胞/硬化性横纹肌肉瘤等密切相似物相鉴别,因为后者的预后相对较差,治疗更具侵袭性,包括化疗。