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We report the case of a 14 year-old teenager who has SC hemoglobinosis and presented with a tumor syndrome with a retro-peritoneal mass, a supraclavicular lymph node and a mid-renal lesion. The microscopic examination revealed an undifferentiated tumor proliferation infiltrating the lymph node parenchyma. This tumor proliferation was INI1/SMARCB1-deficient, and expressed cytokeratins. Given the fact that the histopathological data showed an undifferentiated INI1-deficient carcinoma and that the patient has a kidney lesion and a sickle cell trait, the final diagnosis was lymph node metastasis of SMARCB1-deficient renal medullary carcinoma (OMS 2022). Copyright © 2024 Elsevier Masson SAS. All rights reserved.

Citation

Mehdi Aymen Bendimerad, Catherine Meilhac-Fournier, Eleni Nika, Christian Piolat, Diane Giovannini, Séverine Valmary-Degano. SMARCB1-deficient renal medullary carcinoma with revealed by a supra-clavicular metastatic lymph node]. Annales de pathologie. 2024 Sep;44(5):372-377

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PMID: 38816307

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