Sarcoma With CIC-DUX4 Gene Fusion
| Autor: | Allirot Camille, Bobillier-Chaumont Severine, Nika Eleni, Perret Cécile, Piolat Christian, Plantaz Dominique, Pierron Gaëlle, Bidaut Anne-Sophie, Durand Chantal, Delattre Olivier, Saada-Sebag Geraldine, Sartelet Hervé, Anne Mc Leer-Florin |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Oncogene Proteins Fusion medicine.medical_treatment Context (language use) Pathology and Forensic Medicine Fusion gene 03 medical and health sciences Fatal Outcome 0302 clinical medicine Biomarkers Tumor medicine Humans Oncogene Fusion Thrombus Child Pathological Chemotherapy medicine.diagnostic_test business.industry Sarcoma General Medicine medicine.disease Kidney Neoplasms 030104 developmental biology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Immunohistochemistry business Fluorescence in situ hybridization |
| Zdroj: | Pediatric and Developmental Pathology. 21:406-410 |
| ISSN: | 1615-5742 1093-5266 |
| Popis: | Recent molecular advances have identified a novel sarcoma defined molecularly by oncogenic fusion of the genes CIC and DUX4 termed CIC-DUX4 sarcomas. The most common site of involvement was the trunk but some cases have been described in the head and neck and extremities. We report one of the first cases of primitive renal CIC-DUX4 sarcoma: a 12-year-old boy who presented a renal tumor, a vena cava thrombus, and lung metastases. The morphological and immunohistochemical analysis showed an undifferentiated sarcoma. Molecular analysis demonstrated a CIC-DUX4 translocation, confirmed by fluorescence in situ hybridization. Despite treatment with chemotherapy, the evolution was unfavorable and the patient died 17 months after the diagnosis in a context of brain metastases. The diagnosis of sarcoma with CIC-DUX4 gene fusion is difficult in lack of specific pathological characteristics emphasizing the need for molecular analysis. Treatment has not yet been codified for these very aggressive tumors. |
| Databáze: | OpenAIRE |
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