Natural History and Tissue Acquisition Study of Adrenocortical Carcinoma

Background:

- Adrenocortical carcinoma (ACC) is a rare tumor with an incidence of 1.5 to 2 per million
people per year. It has a very poor prognosis with an overall 5-year mortality rate of
75 - 90% and an average survival from the time of diagnosis of 14.5 months.

- The treatment of choice for a localized primary or recurrent tumor is surgical
resection.

Patients with recurrent or metastatic disease are infrequently curable by surgery alone.

- As with most solid tumors, chemotherapy options have limited benefit, although
platinumbased therapies have response rates of 25 to 30%. To date no targeted therapy
has been shown to be of any value in this disease.

- The natural history of ACC can vary greatly with some patients surviving only months
while others can live with disease for years. The basis for these differing clinical
presentations is not known. While one cannot exclude an immune or other host component
as responsible for the diverse clinical courses, it is also possible that there may be a
genetic basis for this phenomenon. A bio-specimen repository will be a major step
towards more comprehensive studies of this very rare and unusual tumor, and allow us to
begin to characterize subgroups within the disease.

- Patients with rare tumors seek expert advice in the management of their care. Dr. Fojo
has such expertise and is frequently asked to consult in the care of ACC patients
throughout the world. A natural history study would establish a more formal mechanism
for such referrals, while allowing the systematic collection of epidemiologic data as
well as much needed tumor samples.

Objective:

-To characterize the natural history of adrenocortical cancer, and in the process, collect
blood, and tissue samples to study genetic/biochemical pathways involved in the development
and progression of adrenocortical cancer (ACC).

Eligibility:

- Patients greater than or equal to 12 years of age with biopsy-proven ACC

- Patients greater than or equal to 12 years of age suspected of having ACC

Design/Schema:

- Patients will be offered clinical consultation with treatment recommendations, including
standard of care and clinical trial options. Computed tomography scans of the thorax,
abdomen and pelvis will be performed for staging purposes as indicated; occasionally,
magnetic resonance imaging will be performed for the visualization of lesions in the
liver, spine, or other anatomic sites.

- Medical histories will be documented and patients followed throughout the course of
their illnesses, with particular attention to patterns of disease recurrence and
progression, response to therapies, duration of responses and hormone production in
patients with hormone production as a manifestation of their disease. Tumor growth rates
will also be calculated throughout the course of the disease.

- Blood and tumor samples will be obtained at baseline and at follow-up intervals when
surgery is indicated. Tumor samples may include samples harvested at other facilities
during or prior to enrollment on this trial.

- Genetic and epigenetic analysis of tumors and in selected cases expression array
analysis will be performed.