Pediatric Cystic Nephroma Is Morphologically, Immunohistochemically, and Genetically Distinct From Adult Cystic Nephroma

Am J Surg Pathol. 2017 Apr;41(4):472-481. doi: 10.1097/PAS.0000000000000816.

Abstract

The term cystic nephroma has traditionally been used to refer to 2 neoplasms, a lesion in adults that is now thought to be part of the spectrum of mixed epithelial stromal tumor (MEST) and a pediatric lesion that has been associated with mutations in the DICER1 gene. A direct detailed morphologic, immunohistochemical, and genetic comparison of these 2 lesions has not been performed. In this study, we compare the morphologic features, immunoreactivity for estrogen receptor and inhibin, and DICER1 genetic status of 12 adult cystic nephroma/MEST (median age 50.5 y, all females) and 7 pediatric cystic nephroma (median age 1.3 y, male:female=6:1). Both lesions (11 of 12 adult cases, 6 of 7 pediatric cases) frequently demonstrated subepithelial accentuation of stromal cellularity, though the increased cellularity frequently included inflammatory cells in the pediatric cases. All adult and pediatric cases labeled for estrogen receptor; however, whereas most (83%) of adult cases labeled for inhibin at least focally, no pediatric case labeled for inhibin. Most adult cases (58%) demonstrated wavy, ropy collagen in association with cellular stroma, whereas this was not found in pediatric cases. 86% of pediatric cases demonstrated DICER1 mutations, whereas only 1 of 10 adult cases demonstrated a DICER1 mutation. In summary, although cellular stroma and estrogen receptor immunoreactivity are commonly present in both adult and pediatric cystic nephroma, ropy collagen and inhibin immunoreactivity are far more common in adult cystic nephroma/MEST, whereas DICER1 mutations are far more prevalent in pediatric cystic nephroma. These results support the current World Health Organization Classification's separation of adult and pediatric cystic nephromas as distinct entities.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Biomarkers, Tumor* / analysis
  • Biomarkers, Tumor* / genetics
  • Biopsy
  • Child, Preschool
  • Collagen / analysis
  • DEAD-box RNA Helicases / genetics
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Immunohistochemistry*
  • Infant
  • Inhibins / analysis
  • Kidney Neoplasms / chemistry
  • Kidney Neoplasms / diagnosis*
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Male
  • Middle Aged
  • Mutation
  • Neoplasms, Complex and Mixed / chemistry
  • Neoplasms, Complex and Mixed / diagnosis*
  • Neoplasms, Complex and Mixed / genetics
  • Neoplasms, Complex and Mixed / pathology
  • Neoplasms, Cystic, Mucinous, and Serous / chemistry
  • Neoplasms, Cystic, Mucinous, and Serous / diagnosis*
  • Neoplasms, Cystic, Mucinous, and Serous / genetics
  • Neoplasms, Cystic, Mucinous, and Serous / pathology
  • Predictive Value of Tests
  • Receptors, Estrogen / analysis
  • Ribonuclease III / genetics
  • Stromal Cells / chemistry
  • Stromal Cells / pathology

Substances

  • Biomarkers, Tumor
  • Receptors, Estrogen
  • Inhibins
  • Collagen
  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases