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.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pathology, University of Göttingen, Göttingen, Germany. clbehnes@med.uni-goettingen.de
authors: Carl Ludwig
authors: CL
authors: Behnes
authors: Christina
authors: C
authors: Schlegel
authors: Moneef
authors: M
authors: Shoukier
authors: Isabella
authors: I
authors: Magiera
authors: Frank
authors: F
authors: Henschke
authors: Alexander
authors: A
authors: Schwarz
authors: Felix
authors: F
authors: Bremmer
authors: Hagen
authors: H
authors: Loertzer
mesh_terms: D000328:Adult; D001706:Biopsy; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000473:pathology / Q000556:secondary*; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology / Q000556:secondary*; D018231:Leiomyomatosis / Q000235:genetics / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology*; D008207:Lymphatic Metastasis; D020125:Mutation, Missense; D009333:Neck; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms; D014594:Uterine Neoplasms
chemical_list: D005649:Fumarate Hydratase