Brief overview of primary mesenchymal chondrosarcoma and discussion of a case report
Ontology highlight
ABSTRACT:
SUBMITTER: Theriault R
PROVIDER: S-EPMC9834593 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:BackgroundMesenchymal chondrosarcoma (MCS) is a rare malignant variant of chondrosarcoma with a high tendency of recurrence and metastasis. Intradural extramedullary spinal MCS is exceedingly rare and usually found in pediatric patients. Herein, we present an elderly patient with primary intradural extramedullary spinal MCS. Relevant literatures are reviewed to disclose characteristics of intradural extramedullary spinal MCS.Case presentationA 64-year-old female presented with urinary difficulty and tightness of upper back preceding progressive weakness of right lower extremity. Magnetic resonance imaging revealed an intradural extramedullary tumor at the level of 3rd thoracic vertebra. This patient underwent total tumor resection and then received adjuvant radiotherapy. Histopathological examination showed that the tumor composed of spindle and round cells with high nucleocytoplasmic ratio accompanied by scattered eosinophilic chondroid matrix. Along with immunohistochemical findings and the existence of HEY1-NCOA2 fusion transcript, the diagnosis of MCS was confirmed. Neurologic deficit recovered nearly completely after surgery. No evidence of local recurrence or distant metastasis was found 5 years after treatments. Including the current case, a total of 18 cases have been reported in the literature with only one case with local recurrence and one case of mortality. The current case was the eldest patient diagnosed with primary intraspinal MCS in the literature.ConclusionsMCS rarely appears in the intradural space of the spine. In contrast to classic MCS, treatment outcome of primary intradural extramedullary spinal MCS is usually excellent as total tumor resection is commonly achievable. Adjuvant radiotherapy may reduce local recurrence and chemotherapy may be associated with fewer recurrences especially for unresectable tumors.
| S-EPMC6727557 | biostudies-literature
Project description:BackgroundPrimary pulmonary artery sarcoma (PAS) is a rare tumor that presents like pulmonary embolism (PE), primary chondrosarcoma in the pulmonary artery is even rarer and few studies have been reported. PAS are commonly misinterpreted as in a clinical setting, many patients initially receive anticoagulant and thrombolysis therapy, but failed to respond. Management of this condition is difficult and prognosis is poor. We report a case of primary pulmonary artery chondrosarcoma that was initially misdiagnosed as PE and Inappropriate interventional therapy was performed, but with poor response. Finally, patient received surgical treatment, postoperative pathology confirmed primary pulmonary artery chondrosarcoma.Case descriptionA 67-year-old woman who had presented with cough, chest pain and shortness of breath for more than 3 months. Computed tomography pulmonary angiography (CTPA) showed filling defects were seen in the right and left pulmonary arteries, spreading to the outer lumen. The patient was initially diagnosed with PE and underwent transcatheter aspiration for pulmonary artery thrombus, transcatheter thrombolysis, and inferior vena cava filter placement at a local hospital, but with poor response. She was then referred for pulmonary artery tumor resection, endarterectomy and pulmonary arterioplasty. Histopathological examinations confirmed a diagnosis of primary PAS (chondrosarcoma). The patient developed in situ recurrence of pulmonary artery tumors in 10 months after surgery and received six cycles of adjuvant chemotherapy. The lesions progressed slowly after chemotherapy. The patient subsequently developed lung metastasis in 22 months and died of heart failure and respiratory failure 2 years after surgery.ConclusionsPAS is an extremely rare and the clinical symptoms and radiological features often mimics PE, therefore When doctors make differential diagnosis of pulmonary artery mass lesions, especially when the anticoagulation and thrombolytic effects are very poor. They need to be alert to the possibility of PAS so that early diagnosis and early treatment can prolong the survival of patients.
| S-EPMC10174972 | biostudies-literature
Project description:Background Mesenchymal chondrosarcoma (MCS) is a rare malignant chondrosarcoma with a high propensity for recurrence and distant metastasis. MCS usually arises from bone tissue, and rarely occurs outside the bone. MCS in the subdural and extramedullary regions of the spinal cord is especially rare. In this article, we report a case of spinal intradural extramedullary MCS with herpes virus infection, which is the first such case reported in East China. Case Description A 13-year-old male complained of intermittent low-grade fever, sweating, progressive constipation with weakness of both lower extremities and bilateral hypoesthesia after a 5-month history of herpes virus infection. Spinal magnetic resonance imaging (MRI) revealed a subdural-extramedullary solid nodular mass with isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging that was located behind the superior margin of the T5 vertebral body. The patient was initially diagnosed with thoracic meningioma and underwent spinal cord tumour resection followed by adjuvant chemotherapy. Histopathological examination revealed that the tumour was mainly composed of round or oval cells and mesenchymal chondroid matrix, and gene analysis showed the fusion of HEY1 exon 4 to NCOA2 exon 13. Both test results were consistent with the diagnosis of primary intraspinal MCS. At the 1-year follow-up, the patient received adjuvant chemotherapy, and the reexamination images revealed no evidence of tumour in situ tumour recurrence or distant metastasis. Conclusions As more research has been done on MCS, it has been found that the disease is more likely to occur in adolescents, but is often overlooked due to its lack of imaging characterization. Therefore, the misdiagnosis rate can be reduced only by closely considering clinical manifestations with pathology and imaging findings. Although MCS is a highly malignant tumour, early primary spinal intradural extramedullary MCS can cause neurological symptoms, early detection and treatment can achieve basic total surgical resection. Postoperative adjuvant chemoradiotherapy can further reduce recurrence.
| S-EPMC9552268 | biostudies-literature
Project description:BackgroundPrimary mesenchymal chondrosarcoma (PMC) is a relatively rare malignancy that can occur in bone or soft tissue, but rarely in the lumbar spine; there is currently no unified treatment. We report a case of mesenchymal chondrosarcoma originating from the L1 vertebra.Case descriptionA 47-year-old female patient was admitted to the hospital with intermittent low back pain for 20 years, accompanied by intermittent headache and radiating pain in both lower limbs. After admission, magnetic resonance imaging (MRI) showed bone destruction of the L1 vertebral body and accessories and a surrounding soft tissue mass. Enhanced MRI revealed significant enhancement of the L1 vertebral body and soft tissue mass. Technetium 99 m-methylene diphosphonate (99 m Tc-MDP) bone scan showed abnormally high metabolism in the L1 vertebral body, which is highly suspicious of malignancy, and vertebral biopsy revealed a soft tissue malignancy originating from the mesenchymal tissue. Total vertebrectomy combined with postoperative adjuvant radiotherapy was planned, but the patient refused radiotherapy for financial reasons. Intraoperative frozen sections indicated mesenchymal chondrosarcoma, as confirmed by postoperative pathological examination. After 1 year of outpatient follow-up, the patient had no related symptoms, and normal motor and sensory function, and her condition had improved.ConclusionsTotal tumor resection is an effective treatment for PMC, and increased attention to this disease in the clinic is essential.
| S-EPMC9552263 | biostudies-literature
Project description:Chondrosarcomas are tumors consisting of osseous or cartilaginous stroma. They are not an uncommon pathology; however, primary pulmonary chondrosarcomas arising in lung parenchyma are extremely rare, with few cases published in literature. Herein, we present a case with biopsy-proven primary pulmonary chondrosarcoma after exclusion of primary origin elsewhere. In the case presented in this report, we demonstrate the clinical presentations, pulmonary function tests, and the radiological findings of this rare tumor in a young male patient. Further, we present a brief review of existing literature for patients with similar pathology.
| S-EPMC7049877 | biostudies-literature
Project description:Mesenchymal chondrosarcomas (MCSs) are rare malignant tumors of the bone and soft tissues. Only a few cases of such tumors originating from the spinal canal meninges have been described in the literature. The authors report on a case of a 22-year-old woman with MCS of the arachnoid at the T12-L1 level with a 14-year-long observation. The tumor was totally resected using osteoplastic laminotomy with reconstruction of laminar roof. This small spindle cell tumor was initially microscopically suspected of synovial sarcoma, but correctly verified with widened immunophenotyping and molecular studies as MCS. At its first recurrence, the neoplasm showed microscopically a typical bimorphic pattern of small round cell component with foci of hyaline cartilage. The patient experienced three local recurrences: 4, 6, and 10 years after the initial resection, respectively. The techniques of laminotomy and relaminotomy were also used during three following operations. The repeated surgical removal, radiotherapy, and chemotherapy were the methods of complex oncological treatment. The patient remains now in complete remission, fully self-dependent with slight motor disturbance, and mild sensory deficits. Current views on the clinicopathological characteristics and treatment modalities of the chondrosarcomas of the spinal canal are discussed.
| S-EPMC5553510 | biostudies-other
Project description:BackgroundExtraskeletal mesenchymal chondrosarcoma (ESMC), an uncommon and highly aggressive form of chondrosarcoma, is characterized by its mesenchymal origin and absence of skeletal involvement. Only a few cases of primary ESMC with metastasis to the pancreas have been reported so far. In this study, we present a case of ESMC in the left thigh with a solitary pancreatic metastasis in a 45-year-old woman. Additionally, we provide a thorough overview of ESMC, encompassing its entire clinical progression and radiographic observations. Furthermore, we reviewed all thirteen cases of pancreatic metastasis, including this present case, analyzing patient attributes, clinical management, and prognosis.Case presentationA 45-year-old woman has had a painless mass in her left thigh for one year. X-ray, computed tomography (CT), and magnetic resonance imaging of the left thigh were performed. Positron emission tomography-CT imaging showed a high accumulation in the left thigh tumor and the pancreatic neck lesion. A diagnosis of extraskeletal chondrosarcoma with pancreatic metastasis was determined based on the radiological examinations. A final diagnosis of ESMC was confirmed by histopathological and immunohistochemical examinations after surgical resection. The patient presented metastasis in the lung, right groin, and tail of the pancreas successively, and mostly received complete surgical excision during a 39-month follow-up with postoperative chemotherapy.ConclusionWe present a highly uncommon case of ESMC spreading to the pancreas and highlight the importance of recognizing the distinctive imaging features of ESMC for diagnosis and prognosis assessment.
| S-EPMC11496084 | biostudies-literature
Project description:Macrodontia is a dental condition where a tooth or group of teeth are abnormally larger than average. Functional and aesthetic discrepancies may arise in affected individuals resulting in lowering the quality of life. It has been noted that macrodontia is associated with several genetic and endocrine abnormalities. Among which, KBG syndrome is a rare genetic disorder characterized by developmental and dental abnormalities. This case report provides a brief overview of the significance of macrodontia, along with presenting a case of KBG syndrome with atypical features in a South African, 16-year-old female. The dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in KBG syndrome facilitates accurate diagnosis and appropriate management of this condition. The authors highlight the importance for clinicians to be cognizant of the clinical implications of macrodontia.
| S-EPMC8026913 | biostudies-literature
Project description:Mesenchymal chondrosarcoma is an extremely rare malignant tumour that most commonly originates in the bone, but is also present in extraskeletal sites. The tumour is morphologically characterized by a biphasic pattern of small round cells and islands of cartilage. Spinal mesenchymal chondrosarcomas are even rarer and, therefore, few investigations exist regarding the biological behaviour of the tumours. In the present study, we report a case of a 10-year-old female presenting with 9 months of back pain and radiographic findings of an intradural lesion measuring 1.5 cm at the level of Th4. The tumour was completely excised and subjected to pathological analyses. Following detection of the HEY1-NCOA2 fusion gene, the tumour was morphologically and immunohistochemically defined as an intradural mesenchymal chondrosarcoma attached to the dura mater. In this study, we validate the recent identification of the fusion gene HEY1-NCOA2 in paediatric extraskeletal mesenchymal chondrosarcomas. The relevant literature is reviewed and further discussed in relation to our findings.
| S-EPMC4156271 | biostudies-literature
Project description:Background Intracranial extraskeletal mesenchymal chondrosarcoma (EMCS) is a rare neoplasm and often misdiagnosed before histopathological examination due to its rarity. There were few reports previously on the radiological features of intracranial EMCS. We described a 20-year-old male patient with intracranial EMCS focusing on the imaging characteristics. Case Description The patient was admitted to our hospital due to headache and dizziness for two months, without nausea, vomiting, limb convulsions and loss of consciousness during the illness. Pre-contrast computed tomography (CT) revealed a large slightly hyperdense mass with irregularly lobulated margins in the right parietal and occipital region and multiple patchy calcifications in peripheral of the lesion. The inner table of right parietal bone adjacent to the mass was compressed, thickened, and eroded. Magnetic resonance imaging (MRI) exhibited intermediate and hypo-intensity on T1-weighted images (T1WI) and slight hyper-intensity on T2-weighted images (T2WI) with extremely high intensity rim of cerebral spinal fluid (CSF) and low intensity flow-void vessel. The mass demonstrated heterogeneous remarkable enhancement and “dural tail” sign also was noted. The important imaging signs of this case are irregular calcifications of soft tissue on CT and “dural tail” sign on MRI. The patient underwent tumor resection and was followed up postoperatively with serial MRI every three months. He was alive without obvious clinical symptoms and evidence of recurrence for 9 months. EMCS is a highly invasive tumor and it is difficult to differentiate EMCS from the other intracranial malignant tumors only by clinical characteristics or findings of CT and conventional MR imaging. Radiotherapy and chemotherapy after radical resection are the best treatment choice. Therefore, postoperative patients should be reviewed routinely. Conclusions A knowledge of the imaging features could facilitate differentiation of intracranial EMCS, but the final diagnosis depends on pathological examinations. This paper focuses on the imaging characteristics of EMCS and fully describes the details of lesions in order to provide clinicians with effective differential diagnosis information and improve clinical decision-making.
| S-EPMC9552257 | biostudies-literature