Objective: To investigate the clinicopathological characteristics and differential diagnosis of pediatric SMARCB1/INI1-deficient poorly differentiated chordoma (PDC) of the skull base. Methods: Five cases of SMARCB1/INI1-deficient PDC were identified in 139 cases of chordoma diagnosed in Sanbo Brain Institute, Capital Medical University, Beijing, China from March 2017 to March 2021. The clinical and imaging data of the 5 PDCs were collected. H&E and immunohistochemical staining, and DNA methylation array were used, and the relevant literatures were reviewed. Results: All 5 PDCs were located at the clivus. The average age of the patients was 6.4 years, ranging from 3 to 16 years. Three patients were female and two were male. Morphologically, in contrast with classical chordomas, they presented as epithelioid or spindle tumor cells organized in sheets or nests, with necrosis, active mitoses, and infiltration into surrounding tissue. All cases showed positivity of CKpan, EMA, vimentin and brachyury (nuclear stain), and loss of nuclear SMARCB1/INI1 expression. S-100 protein expression was not frequent (2/5). Ki-67 proliferative index was high (20%-50%). All cases had over-expressed p53. It was necessary to differentiate SMARCB1/INI1-dificient PDC from SMARCB1/INI1-dificient tumors occurring at skull base of children or the tumors with epithelial and spindle cell morphological features. The 3 PDCs with DNA methylation testing showed the methylation profiles different from the pediatric atypical teratoid/rhabdoid tumors. They formed an independent methylation profile cluster. The clinical prognosis of the 5 patients was poor, and the overall survival time was 2-17 months. Conclusions: PDC is a special subtype of chordoma, which often affects children and occurs in the clivus. The PDC shares epithelioid or spindle cell morphologic features which are different from the classic chordoma. Besides the typical immunohistochemical profile of chordoma, PDC also has loss of nuclear SMARCB1/INI1 expression and distinct epigenetic characteristics.
Biomarkers, Tumor/genetics* ; Child ; Chordoma/genetics* ; Diagnosis, Differential ; Female ; Humans ; Male ; Prognosis ; Rhabdoid Tumor/diagnosis* ; SMARCB1 Protein/genetics* ; Skull Base

No abstract available.
Chordoma* ; Diagnosis* ; Neuralgia*

Aged ; Brain Neoplasms ; diagnosis ; surgery ; Chordoma ; diagnosis ; surgery ; Humans ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

Tumors of the clivus and metastases to the clivus are very rare. Metastasis involving the clivus has previously been described in only two case reports. In skull metastasis, the breast and prostate are the most common primary foci, while metastasis from gastric carcinoma is extremely rare. A review of the English literature revealed only one published case of clivus metastases from gastric adenocarcinoma. There is no literature thoroughly explaining the differential diagnosis between chordoma and metastasis. Here we report a rare case of metastasis to the clivus from a gastric adenocarcinoma in a 42-year-old female patient with sudden blurry vision, presenting as bilateral cranial nerve VI palsy.
Abducens Nerve Diseases* ; Adenocarcinoma* ; Adult ; Breast ; Chordoma ; Cranial Fossa, Posterior* ; Diagnosis, Differential ; Female ; Humans ; Neoplasm Metastasis* ; Prostate ; Skull ; Skull Base

Dedifferentiated chordoma (DC) is defined as a chordoma containing sarcoma components. DC is distinguished from conventional chordoma by the rapidity of tumor growth and the potential for distant metastasis. We report two cases of DC, which are developed in the sacrum. We reviewed the medical records and imaging studies of 2 patients diagnosed with DC and the literature published. In the first case, percutaneous biopsy revealed that it was conventional chordoma in the sacrum. Patient underwent radiation therapy (RT). Six years after the RT, the tumor recurred. Surgical removal was performed and the recurrent tumor was diagnosed as DC in histopathologic examination. In the second case, a patient underwent gross total resection of sacral tumor, which was diagnosed with conventional chordoma. Aggravated tumor was detected after 4 months, and patient underwent reoperation. The second operation revealed the transformation of the tumor into DC. The survival time of the patients after the diagnosis was 10 and 31 months. Dedifferentiated chordoma is a rare and highly aggressive tumor. De novo type exists, but it usually transformed from recurrent chordoma after surgical resection or radiation.
Biopsy ; Chordoma* ; Diagnosis ; Humans ; Medical Records ; Neoplasm Metastasis ; Reoperation ; Sacrum* ; Sarcoma

Arrested pneumatization of the sphenoid sinus is a developmental variant that is not always well recognized and is often confused with other pathologies associated with the skull base. This report describes the case of a patient referred for cone-beam computed tomography (CBCT) imaging for dental implant therapy. CBCT demonstrated a well-defined incidental lesion in the left sphenoid sinus with soft tissue-like density and sclerotic borders with internal curvilinear opacifications. The differential diagnoses included intraosseous lipoma, arrested pneumatization of the sphenoid sinus, chondrosarcoma, chondroid chordoma, and ossifying fibroma. The radiographic diagnosis of arrested pneumatization was based on the location of the lesion, its well-defined nature, the presence of internal opacifications, and lack of expansion. Gray-scale CBCT imaging of the area demonstrated values similar to fatty tissue. This case highlighted the fact that benign developmental variants associated with the skull base share similar radiographic features with more serious pathological entities.
Adipose Tissue ; Chondrosarcoma ; Chordoma ; Cone-Beam Computed Tomography ; Dental Implants ; Diagnosis ; Diagnosis, Differential ; Fibroma, Ossifying ; Humans ; Lipoma ; Pathology ; Skull Base* ; Sphenoid Sinus*

OBJECTIVETo study the clinicopathologic features, immunophenotype and differential diagnosis of extraskeletal myxoid chondrosarcoma (EMC).

METHODSThe clinicopathologic features of 5 cases of EMC (during the period from 2008 to 2013) were retrospectively analyzed. Immunohistochemical study (EnVision method) was carried out using the archival material. The literature was reviewed.

RESULTSThere were altogether 3 female patients and 2 male patients. Their age ranged from 38 to 63 years (average = 51 years). The patients primarily presented with a tender soft tissue mass. All the tumors studied were solitary and the duration of disease onset varied from 3 months to 1 year. The sites of involvement included toe (number = 2), intracranial (number = 1), thigh (number = 1) and shoulder (number = 1). Gross examination showed white nodular masses with a gelatinous cut surface. The average tumor size measured 5.2 cm in greatest dimension. Histologically, a multinodular architecture with fibrous or loose fibrovascular septa separating lobules of tumor cells was identified. The lobules contained abundant myxoid stroma, with peripheral accentuation of tumor cellularity. Two cases were diagnosed as cellular variant of EMC, with invasive growth pattern and hemorrhage. The tumor cells in cellular EMC were arranged in solid nodules, with rare myxoid matrix in between. The nuclei were relatively uniform, round to oval and contained prominent nucleoli. The mitotic figure ranged from 5 to 10 per 10 high-power fields. Immunohistochemical study showed that all of the 5 cases were positive for vimentin, mitochondria and CD56. Two cases expressed synaptophysin and NSE. Focal positivity for these neuroendocrine markers was detected in the other 2 cases. Chromogranin and S-100 protein expression was demonstrated in 2 cases. The staining for epithelial membrane antigen was positive in case 2 and negative in the other 4 cases. CD117 showed diffuse positivity in case 1, the other 4 cases were not expressed.

CONCLUSIONSEMC is a rare soft tissue sarcoma characterized by distinctive histopathologic features and often shows neuroendocrine differentiation. Although EMC is a slow-growing tumor, it carries a high local recurrence rate and even metastases, warranting long-term follow up.

Adult ; CD56 Antigen ; metabolism ; Chondrosarcoma ; metabolism ; pathology ; surgery ; Chordoma ; metabolism ; pathology ; Chromogranins ; metabolism ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Neoplasms, Connective and Soft Tissue ; metabolism ; pathology ; surgery ; Phosphopyruvate Hydratase ; metabolism ; Retrospective Studies ; Rhabdomyosarcoma ; metabolism ; pathology ; S100 Proteins ; metabolism ; Shoulder ; Synaptophysin ; metabolism ; Thigh ; Toes ; Vimentin ; metabolism

PURPOSE: A sacral chordoma is a rare, slow-growing, primary bone tumor, arising from embryonic notochordal remnants. Radical surgery is the only hope for cure. The aim of our present study is to analyse our experience with the challenging treatment of this rare tumor, to review current treatment modalities and to assess the outcome based on R status. METHODS: Eight patients were treated in our institution between 2001 and 2011. All patients were discussed by a multidisciplinary tumor board, and an en bloc surgical resection by posterior perineal access only or by combined anterior/posterior accesses was planned based on tumor extension. RESULTS: Seven patients underwent radical surgery, and one was treated by using local cryotherapy alone due to low performance status. Three misdiagnosed patients had primary surgery at another hospital with R1 margins. Reresection margins in our institution were R1 in two and R0 in one, and all three recurred. Four patients were primarily operated on at our institution and had en bloc surgery with R0 resection margins. One had local recurrence after 18 months. The overall morbidity rate was 86% (6/7 patients) and was mostly related to the perineal wound. Overall, 3 out of 7 resected patients were disease-free at a median follow-up of 2.9 years (range, 1.6-8.0 years). CONCLUSION: Our experience confirms the importance of early correct diagnosis and of an R0 resection for a sacral chordoma invading pelvic structures. It is a rare disease that requires a challenging multidisciplinary treatment, which should ideally be performed in a tertiary referral center.
Chordoma* ; Cryotherapy ; Diagnosis ; Diagnostic Errors* ; Follow-Up Studies ; Hope ; Humans ; Notochord ; Perineum ; Rare Diseases ; Recurrence ; Sacrum ; Tertiary Care Centers ; Wounds and Injuries

Intracranial chondroma is a rare benign tumor. Here, we present the case of a 29-year-old female who was afflicted with left eye blindness and ptosis. Brain computerized tomography and magnetic resonance imaging revealed the presence of a giant calcified mass accompanied by a solid mass in the middle and posterior fossa. A differential diagnosis regarding chordoma, chondrosarcoma, and other chondroid tumors based on radiologic information was inconclusive. The lesion was resected completely under a microscope using a combined pterional and subtemporal approach. The pathologic report confirmed the diagnosis of chondroma. No evidence of neurological worsening was observed. The tumor had a calcified mass with mature hyaline cartilage surrounded by a thick fibrous capsule. We dissected the periphery of the tumor mass and removed it via aspiration. It was readily distinguished from normal brain parenchymal tissue. The large calcified mass at the center of the tumor had relatively high vascularity, and a high-speed drill and various rongeurs were used to remove the tumor.
Adult ; Blindness ; Brain ; Chondroma* ; Chondrosarcoma ; Chordoma ; Cranial Fossa, Posterior ; Diagnosis ; Diagnosis, Differential ; Female ; Humans ; Hyaline Cartilage ; Magnetic Resonance Imaging ; Skull Base Neoplasms ; Skull Base*

BACKGROUNDChordomas of the upper cervical spine are rare and present unique surgical challenge. This study aimed to describe the clinical characteristics and surgical management of patients with chordomas of the upper cervical spine.

METHODSTwenty-one patients with chordomas of the upper cervical spine who were treated in Peking University Third Hospital from January 1999 to October 2012 were retrospectively analyzed. Survival was calculated by the Kaplan-Meier method and was compared between groups using the log-rank test.

RESULTSThe postoperative diagnosis was classical chordoma in 20 cases and chondroid chordoma in one case. The mean operative time was 9.5 hours (range 6-17 hours), and the mean blood loss was 2 812 ml (range 700-4 800 ml). There were two postoperative deaths. Unilateral vertebral artery ligation was performed in six patients, cervical nerve roots were cut in six patients, and the external branch of the superior laryngeal nerve was repaired after being cut in one case. Two patients developed postoperative velopharyngeal incompetence, and loosening of the occipitocervical screws was observed in one patient. The recurrence rate was 66.7% (10/15) after a mean follow-up period of 46.8 months (range 14-150 months). The 5- and 10- year overall survival rates were (39.8±13.1)% and (31.9±12.7)%, respectively. There was a significant difference in survival rate between patients who underwent surgery and those who did not.

CONCLUSIONIn spite of the high rates of recurrence and complications after surgical treatment of chordomas of the upper cervical spine, intralesional resection combined with adjuvant radiotherapy remains the optimal treatment to prolong survival.

Adult ; Aged ; Cervical Vertebrae ; pathology ; surgery ; Chordoma ; diagnosis ; surgery ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; diagnosis ; surgery ; Retrospective Studies ; Spinal Neoplasms ; pathology ; surgery ; Treatment Outcome