脊索瘤的影像学特点分析

目的探讨脊索瘤的影像学表现。方法搜集经手术病理证实的脊索瘤42例,对其影像学表现进行回顾性分析。结果颅底脊索瘤23例(54.8%),骶尾部脊索瘤18例(42.9%),外周脊索瘤1例(2.3%)。平片可见颅底及骶尾部溶骨性骨质破坏;CT扫描脊索瘤特征性地表现为斜坡和骶尾部膨胀性软组织肿块伴相应部位广泛溶骨性骨质破坏;MRI扫描对病变范围的显示优于CT。结论脊索瘤有较为典型的好发部位,MRI表现较具特征性。     

Malignant fibrous histiocytoma arising in a recurrent chordoma

Summary We present the case of a sacrococcygeal chordoma which recurred 15 years after the radical removal as a soft tissue tumor in the gluteal musculature. This tumor consisted of two parts: a chordoma without symptoms of aggressive cellular proliferation and a malignant fibrous histiocytoma. During the following 4 years several local recurrences of the malignant fibrous histiocytoma occurred in the gluteal musculature. The patient finally died of lung metastases. No chordoma tumor tissue was found in the lungs, in the gluteal musculature or in the sacrococcygeal bone area. Histology including electron microscopy revealed no proof of a transition of chordoma into malignant fibrous histiocytoma. It must be assumed that the secondary soft tissue tumor originated from residual chordoma cells which were implanted during the operation of the primary tumor. It remains unclear whether the malignant fibrous histiocytoma arose from mesenchymal stromal cells within the chordoma or directly from primitive neuroectodermal chorda cells which possess the ability to differentiate into a variety of cell types including mesenchymal cells.     

Sarcomatoid chordoma: chordoma with a massive malignant spindle-cell component

We report a case of chordoma containing a spindle cell sarcomatoid component with a gradual transition from conventional chordoma. Immunohistochemically, many tumor cells in both conventional chordoma and sarcomatoid components were positive for cytokeratins (AE1/AE3, CAM5.2) and epithelial membrane antigen as well as vimentin. This report provides a rare example of sarcomatoid chordoma. Familiarity with this type of bone tumor should help to avoid confusion with dedifferentiated chordoma and other spindle cell sarcomas or carcinomas. Received: 25 February 2000 Revision requested: 28 March 2000 Revision received: 30 May 2000 Accepted: 28 June 2000     

Chordoma: Radiological–pathological correlation

This review correlates the imaging findings and histological appearances seen in chordomas in a series of patients presenting at our institution, together with a published literature review. A parallel presentation of photographs of imaging findings and microscopic histological findings is made, with the aim being to enhance recognition of this uncommon but clinically significant entity.     

Primary,large extra‐axial chordoma in proximal tibia: a rare case report with literature review and diagnostic implications

Primary extra‐axial chordomas have been rarely documented, especially in the appendicular bones. Until now, nine such cases, objectively confirmed with positive brachyury immunostaining, have been reported. A 42‐year‐old male presented with pain in his right tibial tuberosity (shin) of 2–3 years duration without any associated swelling. He denied complaints related to any other lesion elsewhere in his body. Plain radiograph of his lower limbs revealed a large, eccentric, well‐defined, lytic lesion containing internal septae with a narrow zone of transition and a sclerotic medullary border in the upper metaphysis of his right tibia, associated with a pathological fracture. There was no other lesion identified in his spine on radiographic imaging. Biopsy sections revealed a tumour composed of polygonal cells with moderate to abundant eosinophilic to vacuolated/‘bubbly’ cytoplasm (physaliphorous cells) arranged in lobules within a conspicuous myxoid matrix. By immunohistochemistry, tumour cells were diffusely positive for pan cytokeratin (AE1/AE3), epithelial membrane antigen (EMA), CK19, S100P, meso (HBME1) and Brachyury/T. Diagnosis of an a primary extra‐axial chordoma was finally rendered. Subsequently, the patient underwent bone grafting from his iliac crest. The present case constitutes as the 11th documented case of an extra‐axial, intraosseous chordoma and the 10th such case occurring in the appendicular bones. Literature review of similar cases; their diagnostic mimics along with diagnostic and therapeutic implications of such cases are discussed herewith.     

Poorly differentiated chordoma with whole‐genome doubling evolving from a SMARCB1‐deficient conventional chordoma: A case report

Evolution of poorly differentiated chordoma from conventional chordoma has not been previously reported. We encountered a case of a poorly differentiated chordoma with evidence of whole‐genome doubling arising from a SMARCB1‐deficient conventional chordoma. The tumor presented as a destructive sacral mass in a 43‐year‐old man and was comprised of a highly cellular poorly differentiated chordoma with small, morphologically distinct nodules of conventional chordoma accounting for <5% of the total tumor volume. Immunohistochemistry (IHC) revealed both components were strongly reactive for brachyury and lacked normal staining for INI1. Single nucleotide polymorphism (SNP) array analysis identified multiple genomic imbalances in the conventional component, including deletions of 1p, 3p, and 22q (involving SMARCB1) and loss of chromosomes 5 and 15, while the poorly differentiated component exhibited the same aberrations at a more profound level with additional loss of chromosome 4, low level focal deletion of 17p (involving TP53), and tetraploidy. Homozygous deletion of SMARCB1 was present in both components. Fluorescence in situ hybridization (FISH) analysis confirmed the relevant deletions in both components as well as genome doubling in the poorly differentiated tumor. This case suggests that SMARCB1 loss is an early event in rare conventional chordomas that could potentially evolve into poorly differentiated chordoma through additional genomic aberrations such as genome doubling. Further studies with additional patients will be needed to determine if genome doubling is a consistent pathway for evolution of poorly differentiated chordoma.     

1例小儿半坐位颅内斜坡巨大脊索瘤切除的围术期护理

目的:总结了1例小儿半坐位颅内斜坡巨大脊索瘤切除的围术期护理对策。方法:术前通过全面的评估以及多学科联合方案的制定,做好患儿及家属的心理工作,完善术前的准备,术中严密警惕静脉空气栓塞,术后密切观察直立性低血压、张力性颅内积气的发生,积极预防和处理并发症,完善出院指导。结果:术后4周病人康复出院。结论:多学科合作及完善的围术期护理可以减少半坐位斜坡脊索瘤术后的并发症,提高病人生存质量。     

Comparing Operative Exposures of the Le Fort I Osteotomy and the Expanded Endoscopic Endonasal Approach to the Clivus

Objectives We compare surgical exposures to the clivus by Le Fort I osteotomy (LFO) and the expanded endoscopic endonasal approach (EEEA). Methods Ten cadaveric specimens were imaged with 1.25-mm computed tomography. After stereotactic navigation, EEEA was performed followed by LFO. Clival measurements included lateral and vertical limits to the midline lower extent of exposure (t test). Results For EEFA and LFO, respectively, maximal lateral exposure in millimeters (mean ± standard deviation) was 24.5 ± 3.7 and 24.5 ±  − 3.8 (p = 0.99) at the opticocarotid recess (OCR) and 25.1 ±  − 4.1 and 24.1 ±  − 3.0 (p = 0.53) at the foramen lacerum level; lateral reach at the hypoglossal canals was 39.0 ±  − 5.88 and 56.1 ±   − 5.3 (p = 0.0004); and vertical extension was 56.0 ±  − 4.1 and 56.3 ±  − 3.4 (p = 0.78). Conclusions For clival exposures, LFO and EEEA were similar craniocaudally and laterally at the levels of the OCR and foramen lacerum. LFO achieved greater exposure at the level of the hypoglossal canal.     

Overexpression of Raf-1 and ERK1/2 in sacral chordoma and association with tumor recurrence

Chordoma is a rare and low-malignant neoplasm which is considered to arise from notochord remnants. Due to its large resistance to chemotherapy and radiotherapy, surgical resection so far is the prior treatment for chordoma. However, the recurrence rate is high even after complete surgical resection. Recently, targeted cancer therapy has been demonstrated to be effective in several other tumors, while the related research on chordoma is rare. Mitogen-activated protein kinase signaling pathway is acknowledged to participate in tumor development, in which Raf-1 and extracellular regulated protein kinase 1/2 (ERK1/2) play vital roles. In this study, we evaluated the expression of Raf-1 and ERK1/2 by immunohistochemical staining in 42 chordoma tissue and 16 distant normal tissue. Moreover, we also investigated the correlations of Raf-1 and ERK1/2 expression with clinical features in sacral chordoma. Expression of Raf-1 and ERK1/2 was both significantly higher in sacral chordoma tissue than distant normal tissue (P = 0.008, P = 0.019). Raf-1 positive expression was related to surrounding muscle invasion (P = 0.032) and chordoma recurrence (P = 0.002), but the results did not indicate any association with patients’ age, gender, tumor size and location. ERK1/2 was associated with tumor size (P = 0.044) instead of other clinical factors (P > 0.05). Spearman correlation test showed close relation between ERK1/2 and Raf-1 (P = 0.001, r = 0.518). Kaplan–Meier survival Curve and log-rank test showed that Raf-1 positive expression was associated with shorter continuous disease-free survival time (CDFS) (P = 0.001), while ERK1/2 had no relation to CDFS (P = 0.961). Conclusively, Raf-1 may be an important biomarker in predicting the prognosis of chordoma patients.     

Parapharyngeal chordoma: A diagnostic challenge and potential mimic of pleomorphic adenoma on fine‐needle aspiration cytology

Chordomas are rare tumors that are usually located in the sacrococcygeal and sphenooccipital region. Their cytologic diagnosis is rather straightforward when sampled by fine‐needle aspiration (FNA) from these characteristic locations, especially when physalipherous cells are present. However, chordomas may pose difficult diagnostic challenges when encountered in unusual locations, such as the parapharyngeal region. We report the cytologic findings of a recurrent chordoma sampled through transoral FNA from the parapharyngeal space of a 66‐year‐old woman. As the prior history of chordoma was not available during the rapid onsite evaluation, the presence of bland epithelioid nonvacuolated cells and spindle cells intimately admixed with a fibrillary, intensely metachromatic material led to an initial diagnosis of pleomorphic adenoma. Review of the patient's prior pathology specimen and of the Papanicolaou‐stained smears and cellblock sections showing rare multivacuolated (physalipherous) cells led to the correct diagnosis, which was supported by immunoperoxidase stains (cytokeratin AE1/AE3+, S100+, GFAP?). A review of the literature found no previous instances in which chordomas mimicked pleomorphic adenoma on FNA. However, since the two tumors show significant cytomorphologic overlap, including the presence of abundant fibrillary matrix with embedded neoplastic cells and single bland spindle and epithelioid tumor cells with occasional intranuclear pseudoinclusions, we compared their cytologic features. A review of the FNA cytologic features of this case of chordoma and of 17 consecutive cases of pleomorphic adenoma found that the presence of a more abundant, focally vacuolated cytoplasm favors chordoma over pleomorphic adenoma. Diagn. Cytopathol. 2013. © 2011 Wiley Periodicals, Inc.