Natural History and Tissue Acquisition Study of Adrenocortical Carcinoma
Condition: Adrenocortical Carcinoma
MeSH terms: Carcinoma; Adrenocortical Carcinoma
Study type: Observational

Summary: 
      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.
    

Detailed description: 
      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. 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.
    

Observational model: Case-Only
Time perspective: Prospective
Keywords: Biospecimen Repository; Disease Progression Pattern; Specimen Analysis; Genetic Analysis