Primary Chordoma Research Articles

Primary Chordoma of the Lung

We report the case of a 79-year-old woman referred to our institution for persistent cough and right-sided chest pain. A computed tomographic scan revealed a 2-cm round nodule in the right lower lobe. A wedge resection of the lesion was achieved by video-assisted thoracic surgery. Pathologic examination was consistent with the diagnosis of chordoma. Magnetic resonance imaging of the whole spine and skull basis was normal. Therefore, a diagnosis of primary lung chordoma, an exceptional condition, could be established.

Primary Chordoma in the Nasal Cavity and Nasopharynx: CT and MR Imaging Findings

Primary chordoma in the nasal cavity and nasopharynx is an extremely rare tumor in the extraosseous axial skeleton. Unlike intracranial chordomas, lesions in these sites primarily present as a soft tissue mass without involvement of the skull base bone (clivus), so the preoperative diagnosis of the tumor is possibly difficult. Here, we reviewed the imaging features of 5 cases of chordomas in the nasal cavity and nasopharynx that resulted in successful diagnosis and differential diagnosis of this rare tumor. We retrospectively studied 5 patients with histologically proven chordomas in the nasal cavity and nasopharynx. The lesion features of CT and MR imaging were reviewed, with emphasis on the size, shape, location, margin, calcification, CT attenuation characteristics, signal intensity, and degree of MR imaging enhancement. Expansible and lobular soft tissue masses were mainly present, with irregular intratumor calcification in all 5 cases on CT examination. MR imaging revealed a well-defined tumor with heterogeneous signal intensity in 4 patients, whereas homogeneous signal intensity in 1 patient was present on all pulse sequences. Four cases of nasopharyngeal mass showed mild to moderate heterogenous enhancement. Intratumor septa could be seen in 2 cases. Although no imaging features are pathognomonic, primary chordomas without skull base (clivus) bony changes in the nasal cavity and nasopharynx have some CT and MR imaging findings that are suggestive of diagnosis. The differential diagnosis of the soft tissue mass should be limited to these sites.

Clivus Chordoma: Is It Enough to Image the Primary Site?

Chordomas are rare malignant tumors arising from embryonic remnants of the primitive notochord, around which the skull base and vertebral column develop. They are locally aggressive but metastasize rarely. To our knowledge, this is the first reported case of synchronous intraosseous chordomas. A 32-year-old man presented with intermittent double vision secondary to a right-side abducent nerve palsy. Imaging revealed a clivus chordoma and an asymptomatic synchronous second primary chordoma in the fifth lumbar vertebra. Both chordomas were surgically excised: the clivus using the endonasal, endoscopic route and the L5 vertebra by total vertebral excision and replacement with a titanium prosthesis. The patient made an uneventful and complete recovery. We have modified our departmental practice as we believe that all patients diagnosed with chordoma should have magnetic resonance imaging of their entire spinal tract to exclude a second primary chordoma.

Intraosseous Benign Notochord Cell Tumors (BNCT): Further Evidence Supporting a Relationship to Chordoma

Previous studies have documented the existence of intraosseous benign notochordal cell tumors (BNCTs) within the axial skeleton. Evidence suggests that they may be associated with the development of chordomas. To further investigate the relationship between BNCT and classic chordoma, we reviewed a large series of resected sacral/coccygeal chordomas in an attempt to identify the presence of coexisting BNCTs. Eighty-two sacrectomy/coccygectomy specimens performed for chordoma were identified. Available hematoxylin and eosin slides were reviewed to identify BNCTs and assess their relationship with the coexisting chordoma. BNCTs were defined, in accordance with prior descriptions, as cohesive aggregates of large cells that appeared adipocyte-like because of their vacuolated cytoplasm. The cells exhibited only minimal nuclear atypia and lacked lobulation and myxoid stroma. We identified 6 BNCTs, each was adjacent to but separate from the sacral chordoma. There were 5 females and 1 male, and the mean age was 58 years. Five lesions arose in the sacrum. One lesion arose in the coccyx, and involved 2 contiguous vertebral levels. The BNCTs ranged in size from 1 to 20 mm with a mean size of 6.1 mm. The lesions were exclusively composed of adipocyte-like nuclei without significant nuclear atypia or myxoid stroma. Three lesions contained sclerotic bony trabeculae and intralesional hematopoietic elements were identified in 1 case. In all cases the chordoma was of the conventional type and were morphologically different from the BNCT. BNCTs were identified in 7.3% of sacral/coccygeal resections performed for primary chordoma. We speculate that this finding provides further evidence that BNCT is the precursor lesion for chordoma. Additional investigations are needed to further understand this relationship.

Commentary

Background: Chordomas are rare, slow growing, infiltrative tumors thought to arise from vestigial or ectopic notochord. Chordoma can occur along the axial skeleton, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. Although most chordomas are sporadic, familial cases have also been reported. The most common molecular cytogenetic abnormalities in these tumors are monosomy of chromosome 1 and gain of chromosome 7. In addition, a variety of other chromosomal changes, which are associated with losses and gains of different chromosomes, have also been described in chordomas, such as 1q, 2p, 3p, 5q, 9p, 10, 12q, 13q, 17, and 20q. Methods: In this study, using molecular cytogenetics (iFISH), we have studied lp36, lq25, 3p13-pl4, 7q33, 17pl3.1 (p53 gene locus), 2pl3 (TGF-a locus), 6pl2 (VEGF locus), and 4q26-q27 (bFGF/FGF2 locus) loci in chordoma tissues from seven patients with 7 primary tumors and 11 recurrences. Results: We found that chromosomes lp36, 1q25, 2pl3, and 7q33 are affected in primary chordomas, and these aberrations persist in recurrences. However, the chromosome 6p12 aberration was seen only in primary chordomas, but not in recurrences, indicating that this locus may be associated with chordoma genesis. Conclusions: Our descriptive data from interphase FISH analyses suggest that future studies should incorporate a larger number of patients and should focus on identifying the candidate genes in chordoma pathogenesis. Such studies may use a whole-genomic approach, in addition to the regions identified in this study and others.

New candidate chromosomal regions for chordoma development

Background Chordomas are rare, slow growing, infiltrative tumors thought to arise from vestigial or ectopic notochord. Chordoma can occur along the axial skeleton, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. Although most chordomas are sporadic, familial cases have also been reported. The most common molecular cytogenetic abnormalities in these tumors are monosomy of chromosome 1 and gain of chromosome 7. In addition, a variety of other chromosomal changes, which are associated with losses and gains of different chromosomes, have also been described in chordomas, such as 1q, 2p, 3p, 5q, 9p, 10, 12q, 13q, 17, and 20q. Methods In this study, using molecular cytogenetics (iFISH), we have studied 1p36, 1q25, 3p13-p14, 7q33, 17p13.1 ( p53 gene locus), 2p13 (TGF- α locus), 6p12 (VEGF locus), and 4q26-q27 (bFGF/FGF2 locus) loci in chordoma tissues from seven patients with 7 primary tumors and 11 recurrences. Results We found that chromosomes 1p36, 1q25, 2p13, and 7q33 are affected in primary chordomas, and these aberrations persist in recurrences. However, the chromosome 6p12 aberration was seen only in primary chordomas, but not in recurrences, indicating that this locus may be associated with chordoma genesis. Conclusions Our descriptive data from interphase FISH analyses suggest that future studies should incorporate a larger number of patients and should focus on identifying the candidate genes in chordoma pathogenesis. Such studies may use a whole-genomic approach, in addition to the regions identified in this study and others.

Primary chordoma of the nasal cavity: a rare site of presentation

Primary chordoma of the nasal cavity: a rare site of presentation

Metastasising chordoma to the mandible from a rare vertebral site: the first reported case

Chordoma is a rare tumor, arising from notochord remnants, which usually occurs in the axial skeleton and rarely metastasizes. Although there have been 3 previous reports of metastatic disease to the facial bones from sacrococcygeal chordoma, this is the first to describe spread to the mandible from a vertebral primary chordoma.

Primary Chordoma of the Lateral Nasal Wall: Case Report and Review

Chordomas are malignant, nonepithelial neoplasms derived from notochordal tissue. A primary chordoma of the nasal cavities and paranasal sinuses is extremely rare compared with clival chordomas, which often present as nasal masses after spreading anteriorly. Only a few cases of primary chordoma of the nasal cavities and paranasal sinuses have been reported in the literature. We report a case of a primary chordoma of the lateral nasal wall. Pathologic diagnosis was obtained using an intranasal endoscopic excision. As in our patient, a primary chordoma of the nasal cavity or paranasal sinuses may present with symptoms related to mechanical obstruction secondary to the tumor mass. We summarize our case in the context of the other reported cases, and we discuss treatment options, natural history, and prognosis.

Differential Expression of Epidermal Growth Factor Receptor, c-Met, and HER2/neu in Chordoma Compared With 17 Other Malignancies

To examine the expression of c-Met, c-Erb-b2 (HER2/neu), and epidermal growth factor (EGFR) in a cohort of 12 chordomas, based on the current and future availability of targeted molecular inhibitors. Protein expression levels were analyzed by immunohistochemical analysis from archival tissue using multitumored tissue microarray and by Spearman rank correlation test. Tertiary care facility. We assembled the cohort of 12 chordomas from patients treated at the Yale-New Haven Hospital from 1986 to 2003 and compared them with 51 other tumors from 17 assorted solid tissue tumor types along with 1 sample of healthy tissue from each site. The expression of c-Met, HER2/neu, and EGFR. Most chordomas displayed strong expression of EGFR and c-Met, whereas a variable level of expression of HER2/neu was seen. In addition, we noted a strong correlation between EGFR and c-Met expression, especially for primary chordomas (P = .006). Chordomas, like many other solid-tissue tumors, express HER2/neu, EGFR, and the hepatocyte growth factor/scatter factor receptor c-Met. Most chordomas had strong expression of both the hepatocyte growth factor/scatter factor receptor and EGFR. Inhibitors to EGFR are already in clinical use for other solid-tissue tumors and represent a potentially viable experimental treatment option for refractory chordoma. Further studies are required to investigate these findings.

Chordoma cutis: A report of nineteen patients with cutaneous involvement of chordoma

Chordoma, an uncommon tumor originating from remnants of the notochord, with cutaneous involvement has rarely been reported. Our purpose was to document clinical manifestations, histopathologic features, immunohistochemical findings, treatment, and course of chordoma with cutaneous involvement. Pathologically proven cases of chordoma were reviewed retrospectively for cutaneous involvement. Detailed clinical data and histopathologic changes were studied. Skin biopsy specimens were stained for immunohistochemical phenotyping. Of 207 cases of chordoma, 19 had skin involvement: as local recurrences or metastasis in 12, as direct extension of primary tumor in 6, and as a result of distant metastasis from sacrococcygeal chordoma in 1. Local recurrences were frequent, but distant metastasis to various organs, including skin, occurred. We propose the term chordoma cutis to describe this condition. In seven patients, cutaneous lesions were detected when the diagnosis of primary chordoma was made.

Primary chordoma of the maxillary sinus

A case of primary chordoma of the maxillary sinus is presented. The embryology of the notochord is reviewed and it is suggested that the frequently used adjective "ectopic" is a misnomer. The literature of primary paranasal sinus chordomas is reviewed and the clinicopathological features described. It is emphasized that these lesions can mimic other benign and malignant processes both clinically, radiographically and histologically. The treatment and prognosis is more favorable than the more common craniocervical chordoma.

Roentgenologic Study of Sacrococcygeal Chordoma

CHORDOMA is a rare tumor which arises from the cellular vestiges of the embryonal notochord. It occurs most frequently in the spheno-occipital and sacrococcygeal regions, but primary chordoma has been reported to occur in other parts of the spinal column and the skull. Recently Stewart (1, 2, 3), Andler (4), Montgomery and Wolman (5), Hass (6), Adson, Kernohan, and Woltman (7), and Fletcher, Woltman, and Adson (8) have presented pathologic and clinical studies of this tumor, but very little has been reported on the roentgenologic diagnosis. In the more recent publications, x-ray examination is included in a larger number of cases, and, occasionally, roentgenograms are reproduced. Opinions, however, still differ widely in the estimation of the value of roentgenologic examinations. Most authors concur in that, in the spheno-occipital region, an x-ray examination would not reveal any characteristic or diagnostic evidence other than undifferentiated destruction when it is present. This is so probably because ...