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
- † Equal contributors
Author affiliations
1 Department of Pathology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany
2 Department of Urology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany
3 Insitute of Human Genetics, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany
4 Department of Human Genetics at MVZ Dortmund, Dr. A. Eberhard & Partners, Dortmund, Germany
5 Institute of Pathology, Reumonstr.28, 33102, Paderborn, Germany
6 Department of Diagnostic Radiology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany
Citation and License
BMC Urology 2013, 13:3 doi:10.1186/1471-2490-13-3
Published: 15 January 2013Abstract
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.
