Mixed Epithelial and Stromal Tumor of the Kidney: Mutation Analysis of the DICER 1 Gene in 29

作者:Vanecek Tomas; Pivovarcikova Kristyna; Pitra Tomas; Peckova Kvetoslava; Rotterova Pavla; Daum Ondrej; Davidson Whitney; Perez Montiel Delia; Kalusova Kristyna; Hora Milan; Ondic Ondrej; Dubova Magdalena; Michal Michal; Hes Ondrej*
来源:Applied Immunohistochemistry & Molecular Morphology, 2017, 25(2): 117-121.
DOI:10.1097/PAI.0000000000000262

摘要

Cystic nephroma (CN) and mixed epithelial stromal tumor (MEST) of the kidney have been considered as synonymous terms describing a single nosologic entity in adult patients. Cystic nephroma in pediatric patients (PCN) is, apparently, a completely different nosologic entity. Although the presence of DICER 1 mutations is well established in PCN, nothing is currently known about the DICER 1 gene status in adult MEST/CN. About 33 cases of MEST/CN were selected from the Plzen Tumor Registry; 4 cases were later excluded from the study due to low DNA quality. About 28 of the studied tumors displayed a benign morphology, whereas 1 was diagnosed as a malignant MEST/CN with sarcomatoid differentiation of the stromal component. All 29 samples analyzed using polymerase chain reaction and direct sequencing, including the case with the malignant morphology, were negative for mutation in DICER 1 hot-spot codons 1705, 1709, 1809, 1810, 1813, and 1814. Our results show that MEST/CN has no relation to PCN on a molecular genetic level. On the basis of our findings and the established morphologic differences between PCN and MEST/CN, we conclude that the term CN should be used for pediatric cases only and should be avoided in adult cases of MEST.

  • 出版日期2017-2