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Pediatr Blood Cancer. 2016 Jul;63(7):1272-5. doi: 10.1002/pbc.25959. Epub 2016 Feb 29.

Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome.

Author information

1
Department of Medical Genetics, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
2
Department of Pediatric Hematology-Oncology, McGill University Health Center, Montreal, Quebec, Canada.
3
Division of Hematology/Oncology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
4
Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
5
Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
6
Department of Pediatrics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
7
Division of Pediatric Pathology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
8
Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
9
Anatomical Pathology, Sidra Medical and Research Center, Doha, Qatar.
10
Minneapolis, Minnesota.
11
Departments of Oncology and Experimental Medicine, McGill University, Montreal, Quebec, Canada.
12
Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.

Abstract

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.

KEYWORDS:

ASK; DICER1; PPB; cystic nephroma; miRNA; ultrasound

PMID:
26928971
DOI:
10.1002/pbc.25959
[Indexed for MEDLINE]

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