A case of primary distal-type epithelioid sarcoma of the lumbar vertebra with a review of literature
A case of primary distal-type epithelioid sarcoma of the lumbar vertebra with a review of literature
复制标题
原发性腰椎远端型上皮样肉瘤一例并文献复习
DOI：
10.1007/s00428-020-02955-w
复制
发表时间：
2020
期刊：
影响因子：
3.5
通讯作者：
Yao Takashi
中科院分区：
文献类型：
--
作者：
Ura Ayako;Saito Tsuyoshi;Motoi Toru;Takagi Tatsuya;Suehara Yoshiyuki;Kurihara Taisei;Sano Kei;Sasa Keita;Hayashi Takuo;Yao Takashi
上皮样肉瘤是一种罕见的恶性肿瘤，占成人软组织肉瘤的不到1%。骨原发性EpS极为罕见，迄今为止仅报告了少数病例。我们报告一例原发性腰椎远端型EpS。一名30岁男性，无任何恶性肿瘤病史，在就诊前主诉腰痛3个月。腰椎的磁共振成像（MRI）显示脂肪抑制T2加权像（WI）上的高信号强度和L1椎体的T1 WI上的低信号。肿瘤向前部突出。全身放射学检查未发现其他病变。活组织检查显示为上皮样特征的原发性恶性肿瘤。化疗后，全整块脊椎切除术。肉眼可见，肿瘤坏死取代了整个L1。组织学上，肿瘤显示上皮样细胞结节，上皮标记物强阳性，但缺乏INI 1表达。还观察到肿瘤结节中的中央坏死。该肿瘤显示SMARCB 1位点杂合性丢失，但没有SMARCB 1突变。Foundation One ®CDx的结果显示没有可操作的突变。术后7个月，放射学检查发现左脸颊皮下转移和双侧肺转移伴胸膜播散。根据这些结果，最终诊断为远端型EpS。患者于术后8个月死于该病。
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 T2-weighted 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 theSMARCB1locus but without theSMARCB1mutation. 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.
登录
查看更多内容
影响因子：
4.6
作者：
A. Deyrup;A. Montag
通讯作者：
A. Montag
影响因子：
--
作者：
James, Aaron W;Dry, Sarah M
通讯作者：
Dry, Sarah M
原发性骨上皮样肉瘤：一个独特病例的报告，免疫组织化学和荧光原位杂交证实了 INI1 缺失。
DOI：
10.1097/pas.0b013e31819b92d5
发表时间：
2009
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
D. Raoux;M. Péoc'h;F. Pedeutour;B. Vaunois;A. Decouvelaere;A. Folpe
通讯作者：
A. Folpe
影响因子：
1.9
作者：
H. Tran;Nick Shillingford;Stefanie M Thomas;J. Hammoudeh;Shengmei Zhou
通讯作者：
Shengmei Zhou
影响因子：
3.3
作者：
Kohashi, Kenichi;Izumi, Teiyu;Tsuneyoshi, Masazumi
通讯作者：
Tsuneyoshi, Masazumi