Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome
| Autor: | Harriet Druker, Catherine Goudie, Evan Weber, Steffen Albrecht, Adrian Charles, Mona Kay Wu, Jeffrey Traubici, Jack R. Priest, Marc R. Fabian, Paul S. Thorner, William D. Foulkes, Ronald Grant |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Kidney Pathology medicine.medical_specialty business.industry Cystic nephroma Hematology Pleuropulmonary blastoma medicine.disease Germline Pulmonary Blastoma 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health medicine Neoplasm Sarcoma business DICER1 Syndrome |
| Zdroj: | Pediatric Blood & Cancer. 63:1272-1275 |
| ISSN: | 1545-5009 |
| Popis: | Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to 6 years, sonographic imaging illustrated changes in the size and number of renal cysts, followed at age 8.8 years by a mass, pathologically an ASK. Lung cysts resected in infancy were diagnosed retrospectively as pleuropulmonary blastoma. Both tumors had acquired somatic DICER1 mutations. Ultrasonographic evolution of renal cysts to ASK has not previously been documented. Children with both pulmonary and renal cysts are candidates for DICER1 mutation testing. |
| Databáze: | OpenAIRE |
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