title: Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer.
abstract: OBJECTIVE
  The condition hereditary leiomyomatosis and renal cell carcinoma is characterized by cutaneous leiomyomas, uterine fibroids and aggressive papillary renal cell carcinoma. A number of our patients with hereditary leiomyomatosis and renal cell carcinoma had atypical adrenal nodules, which were further evaluated to determine whether these nodules were associated with hereditary leiomyomatosis and renal cell carcinoma.
  
  
  METHODS
  Patients with hereditary leiomyomatosis and renal cell carcinoma underwent a comprehensive clinical and genetic evaluation. We reviewed the clinical presentation, anatomical and functional imaging, endocrine evaluation, pathological examination and germline mutation testing results.
  
  
  RESULTS
  Of 255 patients with hereditary leiomyomatosis and renal cell carcinoma 20 (7.8%) had primary adrenal lesions, including 4 with bilateral adrenal lesions and 4 with multiple nodules. Two patients had adrenocorticotropic hormone independent hypercortisolism. A total of 27 adrenal lesions were evaluated. The imaging characteristics of 5 of these lesions (18.5%) were not consistent with adenoma by noncontrast computerized tomography criteria. Positron emission tomography was positive in 7 of 10 cases (70%). A total of 12 nodules were surgically resected from 10 adrenal glands. Pathological examination revealed macronodular adrenal hyperplasia in all specimens.
  
  
  CONCLUSIONS
  Unilateral and bilateral adrenal nodular hyperplasia was detected in a subset of patients with hereditary leiomyomatosis and renal cell carcinoma. A functional endocrine evaluation is recommended when an adrenal lesion is discovered. Imaging frequently reveals lesions that are not typical of adenomas and positron emission tomography may be positive. To date no patient has had adrenal malignancy, and active surveillance of hereditary leiomyomatosis and renal cell carcinoma adrenal nodules appears justified.
authors.affiliation: Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-1107, USA.
authors.forename: Brian
authors.initials: B
authors.lastname: Shuch
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Ricketts
authors.forename: Cathy D
authors.initials: CD
authors.lastname: Vocke
authors.forename: Vladimir A
authors.initials: VA
authors.lastname: Valera
authors.forename: Clara C
authors.initials: CC
authors.lastname: Chen
authors.forename: Rabi
authors.initials: R
authors.lastname: Gautam
authors.forename: Gopal N
authors.initials: GN
authors.lastname: Gupta
authors.forename: Gabriela S
authors.initials: GS
authors.lastname: Gomez Macias
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Merino
authors.forename: Gennady
authors.initials: G
authors.lastname: Bratslavsky
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
mesh_terms: D000307:Adrenal Gland Diseases / Q000209:etiology* / Q000473:pathology*; D000311:Adrenal Glands / Q000473:pathology*; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D006965:Hyperplasia / Q000209:etiology; D007680:Kidney Neoplasms / Q000150:complications*; D018231:Leiomyomatosis / Q000150:complications*; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications*; D012878:Skin Neoplasms; D014594:Uterine Neoplasms; D055815:Young Adult