title: Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome.
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.
authors.affiliation: Department of Medical Genetics, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Mona Kay
authors.initials: MK
authors.lastname: Wu
authors.affiliation: Department of Pediatric Hematology-Oncology, McGill University Health Center, Montreal, Quebec, Canada.
authors.forename: Catherine
authors.initials: C
authors.lastname: Goudie
authors.affiliation: Division of Hematology/Oncology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Harriet
authors.initials: H
authors.lastname: Druker
authors.affiliation: Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Thorner
authors.affiliation: Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Traubici
authors.affiliation: Department of Pediatrics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Ronald
authors.initials: R
authors.lastname: Grant
authors.affiliation: Division of Pediatric Pathology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: Steffen
authors.initials: S
authors.lastname: Albrecht
authors.affiliation: Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: Evan
authors.initials: E
authors.lastname: Weber
authors.affiliation: Anatomical Pathology, Sidra Medical and Research Center, Doha, Qatar.
authors.forename: Adrian
authors.initials: A
authors.lastname: Charles
authors.affiliation: Minneapolis, Minnesota.
authors.forename: Jack R
authors.initials: JR
authors.lastname: Priest
authors.affiliation: Departments of Oncology and Experimental Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: Marc Robert
authors.initials: MR
authors.lastname: Fabian
authors.affiliation: Department of Medical Genetics, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.|Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.|Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000235:genetics / Q000473:pathology / Q000601:surgery; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D018202:Pulmonary Blastoma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D043244:Ribonuclease III / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D013577:Syndrome
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: ASK; DICER1; PPB; cystic nephroma; miRNA; ultrasound