title: Renal Cell Carcinoma Occurring in Patients With Prior Neuroblastoma: A Heterogenous Group of Neoplasms.
abstract: 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.
authors.affiliation: *Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH ‡ Department of Pathology and Laboratory Medicine, Indiana University, Indianapolis, IN §Department of Pathology, Emory University School of Medicine, Atlanta, GA ∥Department of Pathology, Kaiser Permanente Panorama City Medical Center, Panorama City ¶Division of Pathology, Children's Hospital Los Angeles, Los Angeles, CA #Department of Pathology and Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI †Section of Pathological Anatomy, University of Ancona, Ancona, Italy.
authors.forename: Sara M
authors.initials: SM
authors.lastname: Falzarano
authors.forename: Jesse K
authors.initials: JK
authors.lastname: McKenney
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Montironi
authors.forename: John N
authors.initials: JN
authors.lastname: Eble
authors.forename: Adeboye O
authors.initials: AO
authors.lastname: Osunkoya
authors.forename: Juan
authors.initials: J
authors.lastname: Guo
authors.forename: Shengmei
authors.initials: S
authors.lastname: Zhou
authors.forename: Hong
authors.initials: H
authors.lastname: Xiao
authors.forename: Saravana M
authors.initials: SM
authors.lastname: Dhanasekaran
authors.forename: Sudhanshu
authors.initials: S
authors.lastname: Shukla
authors.forename: Rohit
authors.initials: R
authors.lastname: Mehra
authors.forename: Cristina
authors.initials: C
authors.lastname: Magi-Galluzzi
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D002292:Carcinoma, Renal Cell / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007680:Kidney Neoplasms / Q000473:pathology*; D008297:Male; D016609:Neoplasms, Second Primary / Q000473:pathology*; D009447:Neuroblastoma / Q000473:pathology*; D016133:Polymerase Chain Reaction; D017741:Survivors
chemical_list: D014408:Biomarkers, Tumor