Renal cell carcinoma occurring in patients with prior neuroblastoma

Sara M. Falzarano, Jesse K. Mckenney, Rodolfo Montironi, John N. Eble, Adeboye O. Osunkoya, Juan Guo, Shengmei Zhou, Hong Xiao, Saravana M. Dhanasekaran, Sudhanshu Shukla, Rohit Mehra, Cristina Magi-Galluzzi

Research output: Contribution to journalArticle

17 Scopus citations


Renal cell carcinoma (RCC) associated with neuroblastoma (NB) was included as a distinct entity in the 2004 World Health Organization classification of kidney tumors. A spectrum of RCC subtypes has been reported in NB survivors. We herein describe a series of 8 RCCs diagnosed in 7 patients with a history of NB. Microscopic evaluation, immunohistochemical staining for PAX8, cathepsin K, and succinate dehydrogenase subunit B (SDHB), and fluorescence in situ hybridization (FISH) for TFE3 and TFEB were performed. Four distinct morphologic subtypes were identified: 3 tumors were characterized by cells with abundant oncocytoid cytoplasm and irregular nuclei; 3 showed features of microphthalmia transcription factor family translocation RCC (MiTF-RCC); 1 had features of hybrid oncocytic-chromophobe tumor; 1 had papillary RCC histology. All RCCs expressed PAX8 and retained SDHB expression. Cathepsin K was positive in 2 MiTF-RCCs, 1 was TFEB FISH positive, and the other was indeterminate. Cathepsin K was negative in a third MiTF-RCC with TFE3 rearrangement. TFE3 FISH was negative in 4 and insufficient in 1 of the other 5 RCCs. While a subset of RCCs associated with NB is characterized by cells with prominent oncocytoid cytoplasm, other RCC subtypes also occur in post-NB patients. Renal neoplasms occurring in patients with a history of NB do not represent a single entity but a heterogenous group of RCCs. SDHB mutations do not explain the subset of nontranslocation RCCs with oncocytoid features; therefore, further studies are needed to clarify whether they may represent a distinct entity with unique molecular abnormalities or may belong to other emerging RCC subtypes.

Original languageEnglish (US)
Pages (from-to)989-997
Number of pages9
JournalAmerican Journal of Surgical Pathology
Issue number7
StatePublished - Jan 1 2016


  • SDHB
  • hybrid oncocytic-chromophobe tumor
  • microphthalmia transcription factor family translocation renal cell carcinoma
  • neuroblastoma
  • oncocytoid features
  • papillary renal cell carcinoma
  • renal cell carcinoma

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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