title: Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer.
abstract: OBJECTIVE
  Hereditary leiomyomatosis and renal cell cancer is a recently described hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and kidney cancer. Our initial experience revealed the aggressive behavior of these renal tumors, often with early metastasis, despite small primary tumor size. We report the clinical characteristics and urological treatment of patients with hereditary leiomyomatosis and renal cell cancer associated renal tumors.
  
  
  METHODS
  A total of 19 patients with hereditary leiomyomatosis and renal cell cancer associated renal tumors were evaluated. The 11 women and 8 men had a median age at diagnosis of 39 years (range 22 to 67), and a median clinical and radiological followup of 34 months (range 6 to 141). Hereditary leiomyomatosis and renal cell cancer manifestations in patients with renal tumors included cutaneous leiomyomas in 11 of 17 evaluable patients (65%) and uterine leiomyomas in 7 of 7 evaluable females (100%).
  
  
  RESULTS
  Median pathological tumor size was 7.8 cm (range 1.5 to 20). Histological subtypes were consistent with hereditary leiomyomatosis and renal cell cancer renal carcinoma. Four of 7 patients with 2.0 to 6.7 cm T1 tumors had spread to regional lymph nodes or metastases at nephrectomy. Overall 9 of 19 patients (47%) presented with nodal or distant metastases.
  
  
  CONCLUSIONS
  Renal tumors in patients with hereditary leiomyomatosis and renal cell cancer syndrome are significantly more aggressive than those in patients with other hereditary renal tumor syndromes. In contrast to other familial renal cancer syndromes, the observation of 3 cm or less renal tumors associated with hereditary leiomyomatosis and renal cell cancer is not recommended. Careful followup of affected and at risk individuals in families is necessary.
authors.affiliation: Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Robert L
authors.initials: RL
authors.lastname: Grubb
authors.forename: Michael E
authors.initials: ME
authors.lastname: Franks
authors.forename: Jorge
authors.initials: J
authors.lastname: Toro
authors.forename: Lindsay
authors.initials: L
authors.lastname: Middelton
authors.forename: Lynda
authors.initials: L
authors.lastname: Choyke
authors.forename: Sarah
authors.initials: S
authors.lastname: Fowler
authors.forename: Carlos
authors.initials: C
authors.lastname: Torres-Cabala
authors.forename: Gladys M
authors.initials: GM
authors.lastname: Glenn
authors.forename: Peter
authors.initials: P
authors.lastname: Choyke
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Merino
authors.forename: Berton
authors.initials: B
authors.lastname: Zbar
authors.forename: Peter A
authors.initials: PA
authors.lastname: Pinto
authors.forename: Ramaprasad
authors.initials: R
authors.lastname: Srinivasan
authors.forename: Jonathan A
authors.initials: JA
authors.lastname: Coleman
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000401:mortality / Q000473:pathology* / Q000628:therapy; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000401:mortality / Q000473:pathology* / Q000628:therapy; D018231:Leiomyomatosis / Q000401:mortality / Q000473:pathology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000401:mortality / Q000473:pathology* / Q000628:therapy; D010375:Pedigree; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000401:mortality / Q000473:pathology* / Q000628:therapy; D015996:Survival Rate; D014594:Uterine Neoplasms / Q000401:mortality / Q000473:pathology* / Q000628:therapy