Study of Adrenal Gland Tumors
Condition: Adrenal Gland Neoplasm
MeSH terms: Adrenal Gland Neoplasms
Study type: Observational

Summary: 
      The adrenal glands, located atop the kidneys, normally produce several types of hormones.
      Tumors of these glands may or may not secrete hormones. It is not known what causes these
      tumors or why some secrete hormones and others do not. Some of the tumors are benign and
      confined to the adrenal gland, and others are malignant (cancerous), and can spread to other
      parts of the body. This study will investigate how adrenal gland tumors develop, why some
      secrete steroid hormones and others do not, and why some are benign and others malignant.

      Patients between 3 and 70 years old with a known or suspected adrenal gland tumor may be
      eligible for this study. Participants will be hospitalized for 7 to 10 days for various tests
      and procedures that may include the following:

        1. Medical history and physical examination, including body measurements, as appropriate.
           Children and adolescents will have Tanner staging, including examination of the
           genitals, to determine the extent of sexual maturity.

        2. 24-hour urine collection to measure hormones in the urine.

        3. Imaging studies, including magnetic resonance imaging (MRI) of the brain, computed
           tomography (CT) and other X-ray studies.

        4. Blood tests to see if the tumor secretes hormones in response to specific stimuli,
           including exercise, food, and various hormones. The hormones are given through an
           intravenous catheter, or IV a thin plastic tube inserted into an arm vein. After the
           stimulus, blood is drawn through the same IV every 30 minutes for up to 3 hours to
           measure hormone levels. Based on the results of these tests, some patients may have
           additional blood tests to check hormone response to special foods, an IV salt solution,
           or other hormones or drugs given either IV or by mouth (in pill form).

        5. Photographs to document the effects on the body of abnormal hormone secretion from the
           adrenal tumor.

        6. Small samples of blood and tumor tissue for research and DNA (genetic) analysis.

      A discussion of treatment options will be based on the results of tests. If surgery to remove
      the tumor is recommended, the procedure can be done at NIH under this study protocol. If a
      malignant tumor is found that cannot be treated surgically, chemotherapy or radiation therapy
      may be recommended. These options are not offered under this protocol, but may be available
      under a different NIH study (for example, at the National Cancer Institute). Referrals will
      be made at the patient s request.

      Patients who had surgery may be followed at the NIH outpatient clinic for 1 year after
      surgery. Patients with certain types of tumors may continue to be followed at NIH once a year
      for up to 5 years.

      A registry of study participants will be created to keep records and correlate medical
      histories with tissues kept at NIH. The registry will also be used to inform participants of
      research studies they may be interested in. No individuals or organizations outside of NIH
      will have access to the registry....
    

Detailed description: 
      The adrenal glands are the major source in the body of the steroid hormones. In normal
      physiology, the pituitary hormone ACTH regulates the secretion of glucocorticoids, while the
      secretion of mineralocorticoids such as aldosterone is controlled by the renin-angiotensin
      system. In addition to these two classes of steroids, the adrenal gland secretes lesser
      amounts of intermediate metabolites as well as dehydroepiandrosterone (DHEA) and its sulfated
      product (DHEAS) and androstenedione, testosterone, estrogen, and estrone. Dysregulated
      secretion of any of these hormones can be caused by sporadic adrenocortical adenomas or
      carcinomas, with the development of specific clinical syndromes depending on the identity of
      the hormones secreted. In at least a subset of cortisol-producing adrenocortical neoplasms,
      the presence of ectopic or abnormal receptors has been described, resulting in the regulation
      of cortisol and/or aldosterone by non-physiologic stimuli. The present study will serve as a
      mechanism to investigate individuals with steroid hormone-secreting adrenocortical tumors of
      all types for the purpose of identifying hereditary, congenital, or acquired defects leading
      not only to hormone oversecretion, but also to tumor formation. One of the first goals of the
      study was (until very recently) to examine the prevalence of ectopic receptor expression in
      cortisol- and/or aldosterone- hormone secreting adrenocortical tumors. This led to the
      understanding of the ontogeny of these tumors and the development of novel therapeutic
      strategies (e.g., receptor antagonists) to control hormone oversecretion. We currently use
      this information for the evaluation and treatment of our patients. An important research goal
      of the study is to identify novel genetic defects leading to tumors of the adrenal gland.
      This is done through a set of methods, from sequencing of the collected DNA to analysis of
      the expression of large sets of genes using gene array/gene chip analysis. This information
      may help to identify patients who would benefit from more aggressive intervention strategies,
      especially those with potentially malignant tumors. This study also provides the patient
      cohort necessary for the establishment of a bank of tissues of varying tumors of the adrenal
      cortex, which may serve in the future as an experimental resource to test new diagnostic and
      therapeutic methods. Finally, an important and more recent goal of this study is to
      investigate the effects of excess aldosterone on renal, cardiac, metabolic, and bone systems
      in patients with primary hyperaldosteronism, an important subgroup of patients with
      adrenocortical tumors. Patients with hyperaldosetronism have not been studied with the same
      rigor as patients with hypercortisolism in the past; this study aims at investigating the
      relative contribution of hyperaldosteronism in the etiopathogenesis of a number of clinical
      problems in patients with adrenocortical lesions and hypertension.
    

Observational model: Cohort
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Research subjects who present with Adrenal adenoma, adrenal carcinoma, Cushing syndrome,
        virilizing adrenals tumor, feminizing adrenal tumor, massive macronodular adrenocortical
        disease, ACTH-independent macronodular adrenal hyperplasia
      
Keywords: Macronodular Adrenals; Cushing's Syndrome; Adrenal Gland; Natural History