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BMC Urol. 2013 Jan 15;13:3. doi: 10.1186/1471-2490-13-3.

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

Author information

1
Department of Pathology, University of Göttingen, Göttingen, Germany. clbehnes@med.uni-goettingen.de

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.

PMID:
23320739
PMCID:
PMC3547807
DOI:
10.1186/1471-2490-13-3
[Indexed for MEDLINE]
Free PMC Article
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