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BMC Urology
Published in: BMC Urology 1/2013

Open Access 01-12-2013 | Case report

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases

Authors: Carl Ludwig Behnes, Christina Schlegel, Moneef Shoukier, Isabella Magiera, Frank Henschke, Alexander Schwarz, Felix Bremmer, Hagen Loertzer

Published in: BMC Urology | Issue 1/2013

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Abstract

Background

Papillary renal cell carcinoma is a rare cancer. Some cases can be attributed to individuals with hereditary renal cell carcinomas usually consisting of the clear cell subtype. In addition, two syndromes with hereditary papillary renal cell carcinoma have been described. One is the hereditary leiomyomatosis and renal cell carcinoma, which is characterized by cutaneous and uterine leiomyomas and renal cell carcinoma mostly consisting of the papillary renal cell carcinoma type II with a worse prognosis.

Case presentation

We describe a case of a 30-year-old woman with hereditary leiomyomatosis and renal cell carcinoma syndrome with extensively metastasized papillary renal cell carcinoma, primarily diagnosed in a cervical lymph node lacking leiomyomas at any site.

Conclusion

Papillary renal cell carcinoma in young patients should be further investigated for a hereditary variant like the hereditary leiomyomatosis and renal cell carcinoma even if leiomyomas could not be detected. A detailed histological examination and search for mutations is essential for the survival of patients and relatives.
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Metadata
Title
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases
Authors
Carl Ludwig Behnes
Christina Schlegel
Moneef Shoukier
Isabella Magiera
Frank Henschke
Alexander Schwarz
Felix Bremmer
Hagen Loertzer
Publication date
01-12-2013
Publisher
BioMed Central
Published in
BMC Urology / Issue 1/2013
Electronic ISSN: 1471-2490
DOI
https://doi.org/10.1186/1471-2490-13-3

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