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1.
Cureus ; 16(2): e54536, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38516457

RESUMO

In this study, we reported one of the first cases where a rare robotic-assisted platform with neuronavigation technology and carbon-fiber-polyetheretherketone (CF/PEEK) screws is employed to surgically treat multilevel thoracic primary spinal epidural melanoma. A 67-year-old male presented with left upper thoracic pain. His magnetic resonance imaging (MRI) of the thoracic spine revealed a dumbbell-shaped left epidural mass at the T2-3 level. Partial resection was performed due to tumor growth into the vertebral bodies and patient discretion for minimal surgery. The patient's neurological conditions improved postoperatively, with reduced reported symptoms of pain and numbness. Postoperative imaging showed evidence of appropriate spinal stabilization. Patient underwent stereotactic body radiation therapy (SBRT), and no adverse events were reported. This case reflects one of the first examples of treating thoracic epidural melanoma with the use of robotic-assisted navigation. Further prospective studies are needed to determine the efficacy of robot-assisted navigation for patients with primary spinal malignant melanoma which may open the possibility of surgery to once presumed non-operative patients.

2.
Virchows Arch ; 483(6): 899-904, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37953374

RESUMO

Pseudoendocrine sarcoma (PES) is a recently described neoplasm typically arising in paravertebral soft tissues. Histologically, PES resembles well-differentiated neuroendocrine tumors but lacks expression of epithelial/neuroendocrine markers, and most show aberrant nuclear ß-catenin positivity. We describe the clinicopathological and molecular features and DNA methylation profile of one PES. A resected paraspinal soft tissue mass in a 52-year-old man showed a neuroendocrine-like neoplasm, negative for keratin, and synaptophysin and showing diffuse nuclear ß-catenin expression. Targeted NGS confirmed a CTNNB1 (p.S37C) mutation. Whole genome methylation analysis showed no match to any methylation class in the central nervous system tumor (versions 11b6 and 12b6) or sarcoma classifier (calibrated scores of ≤0.3), but clustered together with a recently reported PES in which methylation analysis was also performed. He remained disease-free for 18 months after surgery, followed by chemoradiation. As more cases are examined, our findings suggest that PES may have a unique methylation profiling signature.


Assuntos
Sarcoma , Neoplasias de Tecidos Moles , Masculino , Humanos , Pessoa de Meia-Idade , beta Catenina/genética , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Neoplasias de Tecidos Moles/genética , Mutação , Epigênese Genética/genética , Biomarcadores Tumorais/genética
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