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

BMC Urology

Case Report

Alexander Schwarz¹  Isabella Magiera²  Carl Ludwig Behnes³  Felix Bremmer³  Hagen Loertzer⁴  Christina Schlegel⁴  Moneef Shoukier⁵  Frank Henschke⁶ 

[1] Department of Diagnostic Radiology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany;Department of Human Genetics at MVZ Dortmund, Dr. A. Eberhard & Partners, Dortmund, Germany;Department of Pathology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany;Department of Urology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany;Insitute of Human Genetics, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany;Institute of Pathology, Reumonstr.28, 33102, Paderborn, Germany;

关键词: HLRCC;    Fumarate hydratase (fh);    Papillary renal cell cancer;    Leiomyomatosis;   

DOI  :  10.1186/1471-2490-13-3

 received in 2012-07-25, accepted in 2013-01-11,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundPapillary 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 presentationWe 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.ConclusionPapillary 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.

【 授权许可】

CC BY   
© Behnes et al.; licensee BioMed Central Ltd. 2013