A case of primary distal-type epithelioid sarcoma of the lumbar vertebra with a review of literature
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BRIEF REPORT
A case of primary distal-type epithelioid sarcoma of the lumbar vertebra with a review of literature Ayako Ura 1 & Tsuyoshi Saito 1 & Toru Motoi 2 & Tatsuya Takagi 3 & Yoshiyuki Suehara 3 & Taisei Kurihara 1,3 & Kei Sano 1,3 & Keita Sasa 1,3 & Takuo Hayashi 1 & Takashi Yao 1 Received: 1 September 2020 / Revised: 15 October 2020 / Accepted: 19 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Epithelioid sarcoma (EpS) is a rare malignant neoplasm that accounts for < 1% of adult soft tissue sarcomas. Primary EpS of the bone is extremely rare and only a few cases have been reported to date. We report a case of primary distal-type EpS of the lumbar vertebra. A 30-year-old man without any history of malignant tumors had complained of lumbago for 3 months before visiting the hospital. Magnetic resonance imaging (MRI) of the lumbar spine showed a high signal intensity on the fat-suppressed T2weighted image (WI) and a low signal on the T1WI at the L1 vertebral body. The tumor protruded toward the anterior components. Systemic radiological examination revealed no other lesion. A biopsy revealed a primary malignant tumor with epithelioid features. After chemotherapy, total en bloc spondylectomy was performed. Macroscopically, the tumor replaced the entire L1 with necrosis. Histologically, the tumor showed nodules of epithelioid cells that were strongly positive for epithelial markers, but a lack of INI1 expression. Central necrosis in the tumor nodule was also observed. This tumor showed loss of heterozygosity at the SMARCB1 locus but without the SMARCB1 mutation. The result of Foundation One ®CDx showed no actionable mutations. Seven months after surgery, a subcutaneous metastasis to the left cheek and bilateral lung metastasis with pleural dissemination were observed on radiological examination. A final diagnosis of distal-type EpS was made based on these findings. The patient died of the disease 8 months after surgery. Keywords Epithelioid sarcoma . Bone tumor . Loss of heterozygosity . SMARCB1 . INI1
Introduction Epithelioid sarcoma (EpS) is a malignant soft tissue tumor, first described by Enzinger in 1970 [1]. EpS is a rare neoplasm accounting for < 1% of all soft tissue sarcomas and 5–8% of pediatric non-rhabdomyosarcomatous sarcomas [2, 3]. The tumor occurs in all ages; however, it is most prevalent in individuals aged 20–40 years and is rarely found in children and older individuals [3]. Clinicopathologically, EpS is * Tsuyoshi Saito [email protected] 1
Department of Human Pathology, School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
2
Department of Diagnostic Pathology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, 3-18-22, Honkomagome, Bunkyo-ku, Tokyo 113-8677, Japan
3
Department of Orthopaedic Surgery, School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
divided into two types: classic-type EpS (also called distaltype ES) and proximal-type EpS [4]. Dist
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