Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors

  • End date
    Mar 31, 2028
  • participants needed
  • sponsor
    National Cancer Institute (NCI)
Updated on 26 November 2020
BJ Thomas, R.N.
Primary Contact
National Institutes of Health Clinical Center (9.7 mi away) Contact
solid tumor
cns tumor



Approximately 150 cases of cancer per one million per year are considered rare cancers. While all tumors originate from genetic changes, a small percentage of these tumors are familial. Researchers want to study these changes in biological samples from people with rare tumors in order to learn more about how these tumors develop. The information obtained from this study may lead to improved screening, preventive guidelines, and treatments.


To better understand rare cancers and hereditary cancer syndromes.


People who have a rare tumor, a family history of a rare tumor, a hereditary cancer syndrome, or a mutation that leads to rare tumors.


Participants will be screened with questions about their medical history and/or that of their family members. They will give a saliva sample.

Participants who have a tumor will have their medical records and tests reviewed. They will answer questions about their wellbeing and needs. They may provide a tumor tissue sample.

Participants may also have:

  • Physical exam
  • Clinical photography
  • Blood, urine, saliva, and stool samples taken
  • Consultation with specialists
  • A scan that produces a picture of the body. Either one that uses a small amount of radiation, or one that uses a magnetic field.
  • Genetic testing/genetic counseling.

Participants will be contacted once a year. They will answer updated questions about their medical and family history.

Participants will be asked to contact the study team if there are changes in their tumors.

Participants may be invited to join focus groups for people with the same diagnosis of rare tumors.

Participants may be invited to participate in other NIH protocols.


  • Rare tumors are defined as fewer than 150 incident cases per one million per year. Consequently, only 11 tumor types are common in U.S. adults (prostate, breast, lung/bronchus, colon, uterus, bladder, melanoma, rectum, ovary, non-Hodgkin lymphoma, and kidney/renal pelvis neoplasms) and will not be studied in this trial. One-quarter of all adults with tumor have a rare tumor diagnosis.
  • All pediatric tumors meet this definition of rare affecting < 1% individuals younger than 20 years per year in the US.
  • Notably, there is a group of solid tumors that occur so infrequently in children and adults that little is known about the natural history of these tumors, their clinical behavior, molecular/genetic characteristics, optimal management, and drug response.
  • The NCI and the NIH Clinical Center are uniquely suited to pursue studies of rare tumors. There is a precedent in the NCI when even non-interventional studies or initiatives were paradigm-changing. The NCI neurofibromatosis type 1 natural history study allowed the

development of groundbreaking interventional trials in patients with plexiform neurofibromas. The Pediatric and Wild-Type Gastrointestinal Stromal Tumor (GIST) Clinic not only provided the background for discovery of the molecular features of a very

rare disease such as succinate dehydrogenase deficient GIST, but also was able identify therapeutic strategies for this group of patients (for example, avoidance of unnecessarily aggressive surgery). Similarly, studies in adults at the CCR have tremendously advanced the understanding of rare solid tumors occurring primarily in adults such as thymoma, renal cell cancer, and endocrine tumors. The DCEG has made groundbreaking discoveries in large scale long-term longitudinal cohort studies of Li-Fraumeni syndrome, inherited bone marrow failure syndromes, familial melanoma, DICER1-syndrome, and others. We hypothesize that by combining the distinct expertise of DCEG and CCR investigators to jointly study very rare tumors the understanding of the etiology and natural history of these tumors and the development effective prevention strategies and therapies will accelerate.

  • Systematic and longitudinal collection and annotation of clinical history, tissue samples, imaging studies, patient reported outcomes, and other pertinent information in patients with these rare tumors and return of results to patients will provide a service to the patients themselves and to the medical community, in line with the NIH mission of "to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability".
  • To comprehensively and longitudinally evaluate the natural history of patients with rare solid tumors or tumor predisposition syndromes, estimating and defining their clinical spectrum (e.g. disease course and survival).
  • Patients with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year). Central nervous system tumors will not be included.


  • Relatives of patients with diagnosis of rare solid tumors


  • Familial carriers of germline genetic variants that predispose to rare solid tumor and their relatives.
  • This will be a long-term study to comprehensively study patients (and their relatives) with select rare tumors.
  • Initially participants will provide clinical information (medical history, family medical history, imaging studies and reports, surgical pathology reports, genetic test results, patientreported outcomes) and bio specimens (archival pathology specimen and saliva) for review by and feedback from the study team.
  • If necessary, participants will be invited to NIH Clinical Center for additional evaluations and consultation, including clinical phenotyping, genotyping, imaging of tumor sites, and patient reported or other appropriate outcomes.
  • After evaluation participants will be provided with recommendations about possible treatment options here in NIH and might be enrolled into disease specific sub-protocols of this trial.
  • Since long-term follow-up of individuals with rare tumors, their family members at high risk for developing tumors and familial carriers of germline genetic variants is a major feature of the study, we intend to maintain active contact with study subjects for as long as possible.
  • In addition to evaluating individual patients, this protocol will allow bringing groups of patients (approximately 10-20) with specific rare tumors for a rare tumor clinic on the same day to allow for development of a deeper understanding of rare tumors through the conduct of focus groups.

Clinical Study IdentifierNCT03739827
SponsorNational Cancer Institute (NCI)
Last Modified on26 November 2020

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Inclusion Criteria

Is your age greater than or equal to 1 yrs?
Gender: Male or Female
Do you have any of these conditions: Malignant Solid Tumors or Solid Tumor or Pediatric Solid Tumor or Other Neoplasms Solid Tumors or Refractory Solid Tumors?
Do you have any of these conditions: Pediatric Solid Tumor or Solid Neoplasm or Solid Tumour or Malignant Solid Tumors or Solid Tumor or Refractory Solid Tumors or Solid Tumors or Other N...?
Do you have any of these conditions: Malignant Solid Tumors or Refractory Solid Tumors or Solid Neoplasm or Pediatric Solid Tumor or Solid Tumors or Solid Tumour or Solid Tumor or Other N...?
Do you have any of these conditions: Malignant Solid Tumors or Pediatric Solid Tumor or Solid Tumour or Solid Neoplasm or Solid Tumor or Solid Tumors or Other Neoplasms Solid Tumors or Re...?
Patients with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year). Patients with central nervous system tumors will not be included
Relatives of patients with diagnosis of rare solid tumors
Familial carriers of germline genetic variants that predispose to rare solid tumor and their relatives
Ability of subject (or Legally Authorized Representative (LAR)) to understand and the willingness to sign a written informed consent document

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