1. [SMARCB1-deficient renal medullary carcinoma with revealed by a supra-clavicular metastatic lymph node].
- Author
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Bendimerad MA, Meilhac-Fournier C, Nika E, Piolat C, Giovannini D, and Valmary-Degano S
- Subjects
- Humans, Adolescent, Male, Carcinoma, Medullary pathology, Carcinoma, Medullary genetics, Sickle Cell Trait complications, Clavicle pathology, Kidney Neoplasms pathology, Kidney Neoplasms genetics, Lymphatic Metastasis, SMARCB1 Protein deficiency, SMARCB1 Protein genetics
- Abstract
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.)
- Published
- 2024
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