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 21 August 2023
solid tumor
cns tumor
Accepts healthy volunteers



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.


  1. Acinar cell carcinoma of the pancreas
  2. Adamantinoma
  3. Adenosqaumous carcinoma of the pancreas
  4. Adrenocortical carcinoma
  5. Alveolar soft part sarcoma
  6. Anaplastic Thyroid Cancer
  7. Angiosarcoma
  8. Atypical Teratoid Rhabdoid Tumor/MRT
  9. Carcinoid
  10. Carcinoma of Unknown Primary
  11. Chondrosarcoma
  12. Chondromyxoid fibroma
  13. Chordoma
  14. Clear cell renal carcinoma
  15. Clear Cell Sarcoma
  16. Clear cell sarcoma of kidney
  17. Conventional chordoma
  18. Dedifferentiated chordoma
  19. Desmoid
  20. Desmoplastic small round cell tumor
  21. Epithelioid hemangioendothelioma
  22. Esthenioneuroblastoma
  23. Ewing Sarcoma
  24. Fibrolamellar carcinoma
  25. Fusion negative rhabdomyosarcoma
  26. Fusion positive renal cell carcinoma
  27. Fusion positive rhabdomyosarcoma
  28. Gastro-enteropancreatic neuroendocrine tumor
  29. Hepatoblastoma
  30. Hereditary Diffuse Gastric Cancer
  31. Inflammatory myofibroblastic tumor
  32. Kaposiform hemangioendothelioma
  33. Malignant ectomesenchymal tumor
  34. Malignant peripheral nerve sheath tumor
  35. Malignant triton tumor
  36. Medullary thyroid cancer
  37. Mixed acinar adenocarcinoma
  38. Mixed acinar neuroendocrine carcinoma
  39. Myxoid Liposarcoma
  40. Neuroblastoma
  41. Neuroendocrine tumors
  42. NUT midline carcinoma
  43. Osteosarcoma
  44. Pancreas ductal adenocarcinoma with squamous features
  45. Pancreatic acinar cell carcinoma
  46. Papillary renal cell carcinoma
  47. Paraganglioma
  48. Parosteal Osteosarcoma
  49. Periosteal Osteosarcoma
  50. Peripheral nerve sheath tumor
  51. Peripheral primitive neuroectodermal tumor
  52. Pheochromocytoma
  53. Pituitary cancer
  54. Poorly differentiated chordoma
  55. Renal medullary carcinoma
  56. Rhabdomyosarcoma
  57. Round cell Liposarcoma
  58. Schwannoma
  59. Sclerosing Epithelioid Fibrosarcoma
  60. SDH deficient GIST
  61. SMARCB1 deficient tumors
  62. SMARCA4 deficient tumors
  63. Synovial sarcoma
  64. Undifferentiated Sarcoma



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 infrastructure are uniquely suited to conduct 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 participants with plexiform neurofibromas. The Pediatric and Wild-Type Gastrointestinal Stromal Tumor (GIST) Clinic, which involves intramural and extramural experts, 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 participants (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.

Systematic and longitudinal collection and annotation of clinical history, tissue samples, imaging studies, patient reported outcomes, and other pertinent information in participants with these rare tumors and return of results to participants will provide a service to the participants 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 participants with rare solid tumors or tumor predisposition syndromes, estimating and defining their clinical spectrum (e.g. disease course and survival).


Participants with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year).


Relatives of participants with diagnosis of rare solid tumors


Carriers of germline genetic variants that predispose to rare solid tumor and their relatives.


This will be a long-term study to comprehensively study participants (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, patient-reported outcomes) and biospecimens (archival pathology specimen and saliva) for review by and feedback from the study team.

If indicated, participants will be invited to the study site 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 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 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 participants, this protocol will allow bringing groups of participants (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.

Condition Malignant Solid Tumors, Other Neoplasms Solid Tumors, Pediatric Solid Tumor, Refractory Solid Tumors, Solid Tumor
Clinical Study IdentifierNCT03739827
SponsorNational Cancer Institute (NCI)
Last Modified on21 August 2023


Yes No Not Sure

Inclusion Criteria

Cohort 1: Participants with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year). There are no age restrictions beyond the neonatal period (4 weeks)
Cohort 2: Participants without a rare tumor who have a germline genetic variant that
predisposes to a rare solid tumor
Cohort 3: Relatives of participants with diagnosis of rare solid tumors who do NOT have a
known germline variant that predisposes to a rare solid tumor
Cohort 4: Parent/guardian of child participating in a focus group if not already
enrolled on the study
Ability of subject or Legally Authorized Representative (LAR) to understand and the
willingness to sign a written informed consent document

Exclusion Criteria

Clear my responses

How to participate?

Step 1 Connect with a study center
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  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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