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Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome
Author(s) -
Wu Mona Kay,
Goudie Catherine,
Druker Harriet,
Thorner Paul,
Traubici Jeffrey,
Grant Ronald,
Albrecht Steffen,
Weber Evan,
Charles Adrian,
Priest Jack R.,
Fabian Marc Robert,
Foulkes William D.
Publication year - 2016
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25959
Subject(s) - medicine , germline mutation , germline , sarcoma , pathology , anaplasia , kidney , lung , mutation , genetics , gene , biology
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.