Renal Cell Carcinoma Occurring in Patients With Prior Neuroblastoma

A Heterogenous Group of Neoplasms

Sara M. Falzarano, Jesse K. McKenney, Rodolfo Montironi, John 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

12 Citations (Scopus)

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.

Original languageEnglish (US)
JournalAmerican Journal of Surgical Pathology
DOIs
StateAccepted/In press - Mar 11 2016

Fingerprint

Neuroblastoma
Renal Cell Carcinoma
Cathepsin K
Succinate Dehydrogenase
Microphthalmia-Associated Transcription Factor
Fluorescence In Situ Hybridization
Neoplasms
Cytoplasm
Kidney Neoplasms
Survivors
Histology
Staining and Labeling
Kidney
Mutation

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

Renal Cell Carcinoma Occurring in Patients With Prior Neuroblastoma : A Heterogenous Group of Neoplasms. / Falzarano, Sara M.; McKenney, Jesse K.; Montironi, Rodolfo; Eble, John; Osunkoya, Adeboye O.; Guo, Juan; Zhou, Shengmei; Xiao, Hong; Dhanasekaran, Saravana M.; Shukla, Sudhanshu; Mehra, Rohit; Magi-Galluzzi, Cristina.

In: American Journal of Surgical Pathology, 11.03.2016.

Research output: Contribution to journalArticle

Falzarano, SM, McKenney, JK, Montironi, R, Eble, J, Osunkoya, AO, Guo, J, Zhou, S, Xiao, H, Dhanasekaran, SM, Shukla, S, Mehra, R & Magi-Galluzzi, C 2016, 'Renal Cell Carcinoma Occurring in Patients With Prior Neuroblastoma: A Heterogenous Group of Neoplasms', American Journal of Surgical Pathology. https://doi.org/10.1097/PAS.0000000000000632
Falzarano, Sara M. ; McKenney, Jesse K. ; Montironi, Rodolfo ; Eble, John ; Osunkoya, Adeboye O. ; Guo, Juan ; Zhou, Shengmei ; Xiao, Hong ; Dhanasekaran, Saravana M. ; Shukla, Sudhanshu ; Mehra, Rohit ; Magi-Galluzzi, Cristina. / Renal Cell Carcinoma Occurring in Patients With Prior Neuroblastoma : A Heterogenous Group of Neoplasms. In: American Journal of Surgical Pathology. 2016.
@article{a9369fef771f4dc4824e54129d54cde1,
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.",
author = "Falzarano, {Sara M.} and McKenney, {Jesse K.} and Rodolfo Montironi and John Eble and Osunkoya, {Adeboye O.} and Juan Guo and Shengmei Zhou and Hong Xiao and Dhanasekaran, {Saravana M.} and Sudhanshu Shukla and Rohit Mehra and Cristina Magi-Galluzzi",
year = "2016",
month = "3",
day = "11",
doi = "10.1097/PAS.0000000000000632",
language = "English (US)",
journal = "American Journal of Surgical Pathology",
issn = "0147-5185",
publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - Renal Cell Carcinoma Occurring in Patients With Prior Neuroblastoma

T2 - A Heterogenous Group of Neoplasms

AU - Falzarano, Sara M.

AU - McKenney, Jesse K.

AU - Montironi, Rodolfo

AU - Eble, John

AU - Osunkoya, Adeboye O.

AU - Guo, Juan

AU - Zhou, Shengmei

AU - Xiao, Hong

AU - Dhanasekaran, Saravana M.

AU - Shukla, Sudhanshu

AU - Mehra, Rohit

AU - Magi-Galluzzi, Cristina

PY - 2016/3/11

Y1 - 2016/3/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84961226579&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84961226579&partnerID=8YFLogxK

U2 - 10.1097/PAS.0000000000000632

DO - 10.1097/PAS.0000000000000632

M3 - Article

JO - American Journal of Surgical Pathology

JF - American Journal of Surgical Pathology

SN - 0147-5185

ER -