Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 39-year-old black man with sickle cell trait presented with a rapidly progressive, painful proptosis of the left eye. A computed tomographic scan was interpreted as revealing a cavernous hemangioma. Medial orbitotomy revealed a hard, gray mass supranasal to the optic nerve and invading the medial rectus muscle. Intraoperative frozen section specimens were read initially by the pathologist as metastatic adenocarcinoma. On gross examination, the conspicuous hemorrhage, necrosis, and bright yellow color characteristic of renal cell carcinoma were not present. Final pathologic analysis of the orbital lesion revealed metastatic renal medullary cell carcinoma. The primary lesion was located in the right kidney. Renal medullary carcinoma is a rare tumor, often affecting young individuals with sickle cell trait or disease. We report the first confirmed case of renal medullary carcinoma metastatic to the orbit with orbital symptoms preceding the diagnosis of the primary tumor.
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PMID:Renal medullary carcinoma metastatic to the orbit: a clinicopathologic report. 1526 51

A 22-year-old Hispanic man with sickle cell trait presented with blurred vision, double vision, and pain with OD movement. MRI demonstrated an extra-axial mass centered around the temporal bone with extension into the middle cranial fossa and lateral aspect of the extra-conal right orbit, and mass effect on the lateral rectus muscle. Biopsy of the lesion was consistent with renal medullary carcinoma. CT chest/abdomen/pelvis confirmed a primary tumor in the right kidney. No additional metastases were found. Renal medullary carcinoma is a rare, highly aggressive malignancy, which almost exclusively affects young men of African descent with sickle cell trait or sickle cell disease. The authors present the second confirmed case of renal medullary carcinoma metastatic to the orbit, with ocular symptoms prior the typical presenting symptoms of flank pain and hematuria.Renal medullary carcinoma is a highly aggressive malignancy, most commonly seen in African American patients with sickle cell disease. Involvement of the orbit is rare and visual symptoms may precede systemic diagnosis.
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PMID:Renal Medullary Carcinoma With Metastasis to the Temporal Fossa and Orbit. 3157 41