Retropharyngeal chordoma extending to the spinal cord, mimicking a neurogenic tumor: a case report and literature review.
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ABSTRACT:
SUBMITTER: Lee SJ
PROVIDER: S-EPMC8166386 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:The authors report a case of immunoglobulin G4-related disease (IgG4-RD) presenting as a paraspinal, epidural mass. This disease encompasses a host of autoimmune conditions that were previously thought to be separate entities. It is characterized by fibrosis, mediated by the aberrant proliferation and tissue invasion of IgG4-positive plasma cells, which can occur in any organ. As with other autoimmune conditions, it tends to be responsive to steroids and other immunosuppressants. It can rarely present as a tumefactive lesion of the central nervous system, creating the potential for misdiagnosis (given its similar radiological appearance to malignancy) and mistreatment. In 2015, a panel of experts convened to set forth guidelines for the diagnosis and treatment of IgG4-RD. In the case presented here, the patient initially presented with pain and weakness in the left upper extremity. Initial neuroimages revealed a contrast-enhancing mass extending from C-4 to T-1, invading the epidural spinal canal, encasing the exiting nerve roots, infiltrating the paraspinal musculature, and surrounding the left vertebral artery. A PET scan confirmed the mass was hypermetabolic, but results of fine-needle aspiration and CT-guided biopsy were inconclusive. Open biopsy yielded fibrotic tissue that met the pathological criteria for IgG4-RD: lymphoplasmacytic infiltrate, fibrosis in a storiform pattern, and obliterative phlebitis. The patient was treated with 2 doses of 4 mg of dexamethasone (Decadron) and then 50 mg of prednisone per day. Within 2 weeks, the mass was radiologically shown to have drastically decreased in size. The prednisone dose was decreased to 40 mg per day, and 100 mg of azathioprine per day was added. The patient continued to improve and the mass continued to decrease over the next 6 months. Currently, she has been weaned from all steroids and will be maintained on a daily dose of 100 mg of azathioprine.
| S-EPMC5548420 | biostudies-other
Project description:BACKGROUND Chordoma is a rare, but aggressive bone tumor, primarily affecting the axial skeleton. Systemic chemotherapies are not effective against the tumor, and treatment primarily consists of surgical resection and radiation. Despite these treatment modalities, recurrence is common. Our case highlights the role of afatinib as an effective treatment option in such cases. CASE REPORT We present case of 68-year-old female with chordoma, who underwent multiple surgical resections, radiotherapy session, and had course complication by disease progression on imatinib and local recurrence. She was eventually placed on afatinib with good effect. CONCLUSIONS This article discusses the effectiveness of afatanib as a treatment modality, along with diagnosis, histopathological features, associated genetic aberrations, currently available and upcoming treatment options. Special emphasis is placed on molecular targeted therapy, emerging immunotherapies and use of vaccination in this field.
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Project description:Intramedullary spinal cord abscess (ISCA) is a rare clinical pathology of the central nervous system that usually accompanies other underlying comorbidities. Traditionally it has been associated with significant mortality and neurological morbidities because it is often difficult to diagnose promptly, owing to its nonspecific clinical and neuroimaging features. The mortality rate and the outcome of these infections have been improved by the introduction into clinical practice of antibiotics, advanced neuroimaging modalities, and immediate surgery. We report the case of a 65-year-old male patient who presented with a progressive spastic gait and lumbar pain, predominantly in the left leg. An MRI image revealed an expansile intramedullary cystic mass in the thoracic spinal cord, which was initially diagnosed as a spinal tumor. He underwent laminectomy and myelotomy, and eventually the pus was drained from the abscess. The follow-up MRI showed improvement, but the patient's paraplegia persisted. In light of his persistent hypoesthesia and paraplegic gait with developing neuropathic pain, he was readmitted, and an MRI of his lumbar spine revealed multilevel degenerative disease and tethered spinal cord syndrome with compression of the medulla at the L2-L3 level. The patient underwent central flavectomy with bilateral foraminotomy at the L2-L3 level, and the medulla was decompressed. Postoperatively, his neurological symptoms were significantly improved, and he was discharged from hospital on the third day after admission. In support of our case, we systematically reviewed the recent literature and analyzed cases published between 1949 and May 2022, including clinical features, mechanisms of infection, predisposing factors, radiological investigations, microbial etiologies, therapies and their duration, follow-ups, and outcomes. Initial clinical presentation can be misleading, and the diagnosis can be challenging, because this condition is rare and coexists with other spinal diseases. Hence, a high index of suspicion for making an accurate diagnosis and timely intervention is required to preclude mortality and unfavorable outcomes. Our case is a clear example thereof. Long-term follow-up is also essential to monitor for abscess recurrences.
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Project description:Familial skull base chordoma is a rare tumor derived from the remnants of the embryonic notochord. The present study describes the clinical presentation of 4 cases of skull base chordomas in a family. A 15-year-old female received staged surgeries and was pathologically confirmed with a diagnosis of skull base chordoma. Among the patient's family, 2 members had previously undergone surgery and were pathologically confirmed with chordomas; 1 family member had also received radiation therapy. Furthermore, the patient's cousin, an 18-year-old male, was confirmed to have this condition by epipharyngoscopy. All confirmed cases within the family remained alive with the condition. A literature review of familial chordoma was undertaken and 8 chordoma pedigrees were found. Familial chordoma was rare, with an estimated rate of 0.4% in all chordomas. The skull base was the predominant location for familial chordoma. Compared with sporadic chordoma, familial chordomas were diagnosed at a younger age. The brachyury gene was strongly associated with familial chordomas, however, the exact pathogenesis and genetics mechanisms remains unclear.
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Project description:An 8-y-old, intact female degu ( Octodon degus) was presented with a slow-growing mass on the tail tip. The mass was completely removed by partial caudectomy. Histologically, the last coccygeal vertebra was replaced by a lobulated neoplasm composed of large clear polygonal cells embedded in a myxoid alcian blue-positive matrix with highly vacuolated cytoplasm (physaliferous cells) and intracytoplasmic periodic acid-Schiff-positive granules. The neoplasm exhibited the morphologic features of a "classic" chordoma of humans, which is 1 of 3 distinct chordoma subtypes. Immunohistochemistry revealed dual expression of cytokeratin AE1/AE3 and vimentin, consistent with a diagnosis of chordoma. Chordomas are uncommon slow-growing neoplasms in humans and animals, arising from notochordal remnants. Depending on their subtype and location, they can have a high local recurrence rate and metastatic risk. Chordoma should be included in the differential diagnosis of a soft tissue mass on the tail of a degu, similar to the clinical situation in ferrets.
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Project description:Primary spinal cord glioblastoma multiforme (scGBM) is an uncommon entity in pediatrics, and intracranial metastasis originating in spinal cord gliomas is very rare. A 7-year-old female presented with weakness in the limbs, paralysis of the lower limbs and incontinence. The initial MRI of the spinal cord revealed expansion and abnormal signals from T2 to T5. She was initially diagnosed with Neuromyelitis optica spectrum disorders and treated with high-dose glucocorticoid and gamma globulin. Four months later, her symptoms worsened and follow-up imaging showed multiple intracranial mass lesions. We performed a subtotal resection of the right thalamic basal ganglia tumor and gross total resection of the right frontal lobe tumor under microscopic examination. Histopathology revealed scGBM with intracranial metastasis and the molecular pathology diagnosis suggested H3K27M mutant diffuse midline glioma WHO grade IV, which had previously been misdiagnosed as a Neuromyelitis optica spectrum disorders. We review the literature of intracranial metastases originating from pediatric primary spinal cord glioblastoma multiforme and summarize possible methods of differentiation, including changes in muscle strength or tone, intramedullary heterogeneously enhancing solitary mass lesions and cord expansion in MRI. Finally, we emphasize that in unexpected radiological changes or disadvantageous response to the treatment, a biopsy to achieve a pathological diagnosis is necessary to discard other diseases, especially neoplasms.
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Project description:Study Design Case report. Objective Malignant mesothelioma (MM) is an uncommon tumor of the pleural epithelium with a predilection for local spread into adjacent tissues. The sarcomatoid type accounts for ∼10% of MM cases and is associated with poorer survival than the epithelioid, desmoplastic, and biphasic types. MM commonly presents with involvement of the vertebral body or epidural space. However, intradural spinal extension of MM is extremely rare. Only eight cases of intradural spinal extension have been reported. We report this rare case and discuss the clinical manifestations of intradural spinal extension of MM with literature review. Methods This report describes the case of a 62-year-old man with Brown-Séquard syndrome and radiculopathy of the left C5 nerve root detected during treatment for pleural sarcomatoid MM. Magnetic resonance imaging (MRI) showed an intramedullary lesion at the C3 level and a small nodule at the left C5 nerve root with cervical canal stenosis. Results The patient underwent surgery, and intramedullary metastasis of sarcomatoid MM was diagnosed. Subsequently, radiotherapy was administered, resulting in temporary improvement of the patient's condition. Thereafter, his condition gradually deteriorated, and follow-up MRI showed a more extensive residual C3 intramedullary lesion. Thus, a second surgery was performed after chemotherapy, but the patient died 5 months after the initial diagnosis. Conclusion We present this rare case, and emphasize intramedullary spinal cord metastasis of MM as differential diagnosis in primary cord lesion.
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Project description:Rosette-forming glioneuronal tumour (RGNT) of the IV ventricle is a very recent entity, recognized in the latest WHO classification of Central Nervous System Tumors. It is composed by two distinct features: a glial component, with typical characteristics of pilocytic astrocytoma, and a component forming neurocytic rosettes, with eosinophilic regions positive for synaptofisin and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in a peculiar location, namely the spinal cord. We further performed an extensive immunohistochemistry and molecular analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. The histology revealed a WHO grade I RGNT typically found in the fourth-ventricle. Immunoreactivity for synaptophysin and neurofilament protein was noted in the neurocytic component, whereas the glial component exhibited positivity for GFAP and S-100. Neurocytic component was found negative for GFAP. Mitoses were rare, and there was no necrosis present. Across all mutational analyses, there were detected somatic mutations in 4 genes: MLL2, CNNM3, PCDHGC4 and SCN1A. The tumor exhibited a microsatellite stable (MSS) phenotype. Array-CGH (aCGH) showed loss in 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Moreover, we observed focal gains/losses in the chromosomes 1, 2, 3, 6, 7, 11, 14, 17, 22 and 23. Local amplifications in 9q34.2 (region with no genes mapped) and 19p13.3 (region encompassing the gene SBNO2) were identified. Additionally, we verified the KIAA1549-BRAF fusion, typically found in pilocytic astrocytomas, through aCGH, RT-PCR and FISH. Our comprehensive molecular profiling of a RGNT case suggests the existence of a unique genetic pathway for the development of these tumors: KIAA1549-BRAF fusion is a possible driver by constitutively activating MAPK pathway, and MLL2 mutation may lead to profound changes in the methylome. Taken together, these mechanisms may increase survival and/or tumorigenic capacity of cells, leading to the development of this rare entity. Two-color Agilent 8x60K array CGH (aCGH) was performed in the rosette-forming glioneuronal tumour (CY3) and reference DNA (CY5 - DNA extracted from leucocytes of the patient).
2015-07-13 | E-GEOD-64891 | biostudies-arrayexpress
Project description:Rosette-forming glioneuronal tumour (RGNT) of the IV ventricle is a very recent entity, recognized in the latest WHO classification of Central Nervous System Tumors. It is composed by two distinct features: a glial component, with typical characteristics of pilocytic astrocytoma, and a component forming neurocytic rosettes, with eosinophilic regions positive for synaptofisin and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in a peculiar location, namely the spinal cord. We further performed an extensive immunohistochemistry and molecular analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. The histology revealed a WHO grade I RGNT typically found in the fourth-ventricle. Immunoreactivity for synaptophysin and neurofilament protein was noted in the neurocytic component, whereas the glial component exhibited positivity for GFAP and S-100. Neurocytic component was found negative for GFAP. Mitoses were rare, and there was no necrosis present. Across all mutational analyses, there were detected somatic mutations in 4 genes: MLL2, CNNM3, PCDHGC4 and SCN1A. The tumor exhibited a microsatellite stable (MSS) phenotype. Array-CGH (aCGH) showed loss in 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Moreover, we observed focal gains/losses in the chromosomes 1, 2, 3, 6, 7, 11, 14, 17, 22 and 23. Local amplifications in 9q34.2 (region with no genes mapped) and 19p13.3 (region encompassing the gene SBNO2) were identified. Additionally, we verified the KIAA1549-BRAF fusion, typically found in pilocytic astrocytomas, through aCGH, RT-PCR and FISH. Our comprehensive molecular profiling of a RGNT case suggests the existence of a unique genetic pathway for the development of these tumors: KIAA1549-BRAF fusion is a possible driver by constitutively activating MAPK pathway, and MLL2 mutation may lead to profound changes in the methylome. Taken together, these mechanisms may increase survival and/or tumorigenic capacity of cells, leading to the development of this rare entity.
2015-07-13 | GSE64891 | GEO
Project description:RationaleArytenoid dislocation is very rare and may be misdiagnosed as vocal cord paralysis or a self-limiting sore throat.Patient concernsA 70-year-old male (70?kg, 156?cm) was scheduled for transurethral resection of bladder tumors. A McGrath videolaryngoscope, with a basic cuffed Mallinckrodt oral tracheal tube of 7.5?mm internal diameter, was used to successfully intubate his trachea. The duration of surgery was 25?minutes. In the recovery room, he complained of sore throat and dyspnea with inspiratory stridor, which were not resolved after intravenous injection of 10?mg of dexamethasone.DiagnosesThe otolaryngological examination revealed midline fixation of the bilateral vocal folds, suggestive of bilateral arytenoid dislocation or bilateral vocal cord palsy. The latter was ruled out because there was no evidence of recurrent laryngeal nerve injury.InterventionsUnder general anesthesia, a closed reduction was performed using laryngoscopic forceps to apply posterolateral pressure on the arytenoid joints on both sides. Only the dislocation of the left cricoarytenoid joint could be easily reduced, whereas reduction of the right joint was not possible.OutcomesOn postoperative day 7, examination with a rigid laryngoscope showed a medially fixed right vocal fold, with full compensation by the left vocal fold. Computed tomography of the neck showed no pathologic findings. Six weeks after surgery, the patient had regained his normal voice with no complications.LessonsAlthough arytenoid dislocation is a rare complication, it should be considered even in patients with uncomplicated tracheal intubation. Early diagnosis and the optimal therapeutic approach are critical for restoration of the patient's original vocal cord function.
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