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

Mona Kay Wu; Catherine Goudie; Harriet Druker; Paul Thorner; Jeffrey Traubici; Ronald Grant; Steffen Albrecht; Evan Weber; Adrian Charles; Jack R Priest; Marc Robert Fabian; William D Foulkes

doi:10.1002/pbc.25959

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

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

Authors

Mona Kay Wu¹, Catherine Goudie², Harriet Druker³, Paul Thorner⁴, Jeffrey Traubici⁵, Ronald Grant⁶, Steffen Albrecht⁷, Evan Weber⁸, Adrian Charles⁹, Jack R Priest¹⁰, Marc Robert Fabian¹¹, William D Foulkes^{1

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Affiliations

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.

PMID: 26928971
DOI: 10.1002/pbc.25959

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Cysts* / genetics
Cysts* / pathology
Cysts* / surgery
DEAD-box RNA Helicases / genetics*
Female
Genetic Diseases, Inborn* / genetics
Genetic Diseases, Inborn* / pathology
Genetic Diseases, Inborn* / surgery
Humans
Infant
Kidney Neoplasms* / genetics
Kidney Neoplasms* / pathology
Kidney Neoplasms* / surgery
Pulmonary Blastoma* / genetics
Pulmonary Blastoma* / pathology
Pulmonary Blastoma* / surgery
Ribonuclease III / genetics*
Sarcoma* / genetics
Sarcoma* / pathology
Sarcoma* / surgery
Syndrome

Substances

DICER1 protein, human
Ribonuclease III
DEAD-box RNA Helicases