Metastatic renal cell carcinoma without evidence of a renal primary

Corey Costantino, George Thomas, Christopher Ryan, Fergus Coakley, Megan Troxell

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Purpose: Metastatic renal cell carcinoma (RCC), without an identified kidney primary, has been reported rarely. We report a patient with RCC metastatic to bilateral adrenal glands and liver, without an apparent renal primary. We detail the immunohistochemical and molecular studies employed to substantiate the diagnosis of RCC and direct therapy. Methods: Histopathologic findings were correlated with imaging data and supplemented by a panel of immunohistochemical stains, as well as tumor sequence analysis. Results: Despite the presence of bilateral adrenal masses and lack of tumor within kidney parenchyma, the diagnosis of RCC was substantiated by immunohistochemistry (RCC+/PAX2+/PAX8+/Melan-A−/SF-1− among others) and molecular genetic analysis, harboring mutations in VHL,TP53, KDM5C, and PBRM1. After debulking surgery, based on the diagnosis of RCC and the molecular profile, the patient was treated with a tyrosine kinase inhibitor (sunitinib), resulting in stablilization of disease. Conclusions: This case illustrates the role of mutational analysis in carcinomas with rare or unusual presentations, such as metastatic RCC without a renal primary.

Original languageEnglish (US)
Pages (from-to)73-77
Number of pages5
JournalInternational Urology and Nephrology
Volume48
Issue number1
DOIs
StatePublished - Jan 1 2016

Fingerprint

Renal Cell Carcinoma
Kidney
MART-1 Antigen
Adrenal Glands
Protein-Tyrosine Kinases
Sequence Analysis
Molecular Biology
Neoplasms
Coloring Agents
Immunohistochemistry
Carcinoma
Mutation
Liver

Keywords

  • Adrenal cortical carcinoma
  • Renal cell carcinoma
  • Sunitinib
  • VHL

ASJC Scopus subject areas

  • Nephrology
  • Urology

Cite this

Metastatic renal cell carcinoma without evidence of a renal primary. / Costantino, Corey; Thomas, George; Ryan, Christopher; Coakley, Fergus; Troxell, Megan.

In: International Urology and Nephrology, Vol. 48, No. 1, 01.01.2016, p. 73-77.

Research output: Contribution to journalArticle

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abstract = "Purpose: Metastatic renal cell carcinoma (RCC), without an identified kidney primary, has been reported rarely. We report a patient with RCC metastatic to bilateral adrenal glands and liver, without an apparent renal primary. We detail the immunohistochemical and molecular studies employed to substantiate the diagnosis of RCC and direct therapy. Methods: Histopathologic findings were correlated with imaging data and supplemented by a panel of immunohistochemical stains, as well as tumor sequence analysis. Results: Despite the presence of bilateral adrenal masses and lack of tumor within kidney parenchyma, the diagnosis of RCC was substantiated by immunohistochemistry (RCC+/PAX2+/PAX8+/Melan-A−/SF-1− among others) and molecular genetic analysis, harboring mutations in VHL,TP53, KDM5C, and PBRM1. After debulking surgery, based on the diagnosis of RCC and the molecular profile, the patient was treated with a tyrosine kinase inhibitor (sunitinib), resulting in stablilization of disease. Conclusions: This case illustrates the role of mutational analysis in carcinomas with rare or unusual presentations, such as metastatic RCC without a renal primary.",
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AU - Ryan, Christopher

AU - Coakley, Fergus

AU - Troxell, Megan

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N2 - Purpose: Metastatic renal cell carcinoma (RCC), without an identified kidney primary, has been reported rarely. We report a patient with RCC metastatic to bilateral adrenal glands and liver, without an apparent renal primary. We detail the immunohistochemical and molecular studies employed to substantiate the diagnosis of RCC and direct therapy. Methods: Histopathologic findings were correlated with imaging data and supplemented by a panel of immunohistochemical stains, as well as tumor sequence analysis. Results: Despite the presence of bilateral adrenal masses and lack of tumor within kidney parenchyma, the diagnosis of RCC was substantiated by immunohistochemistry (RCC+/PAX2+/PAX8+/Melan-A−/SF-1− among others) and molecular genetic analysis, harboring mutations in VHL,TP53, KDM5C, and PBRM1. After debulking surgery, based on the diagnosis of RCC and the molecular profile, the patient was treated with a tyrosine kinase inhibitor (sunitinib), resulting in stablilization of disease. Conclusions: This case illustrates the role of mutational analysis in carcinomas with rare or unusual presentations, such as metastatic RCC without a renal primary.

AB - Purpose: Metastatic renal cell carcinoma (RCC), without an identified kidney primary, has been reported rarely. We report a patient with RCC metastatic to bilateral adrenal glands and liver, without an apparent renal primary. We detail the immunohistochemical and molecular studies employed to substantiate the diagnosis of RCC and direct therapy. Methods: Histopathologic findings were correlated with imaging data and supplemented by a panel of immunohistochemical stains, as well as tumor sequence analysis. Results: Despite the presence of bilateral adrenal masses and lack of tumor within kidney parenchyma, the diagnosis of RCC was substantiated by immunohistochemistry (RCC+/PAX2+/PAX8+/Melan-A−/SF-1− among others) and molecular genetic analysis, harboring mutations in VHL,TP53, KDM5C, and PBRM1. After debulking surgery, based on the diagnosis of RCC and the molecular profile, the patient was treated with a tyrosine kinase inhibitor (sunitinib), resulting in stablilization of disease. Conclusions: This case illustrates the role of mutational analysis in carcinomas with rare or unusual presentations, such as metastatic RCC without a renal primary.

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