Skip to main content

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

Trial Status: Active

Background: 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. Objective: To better understand rare cancers and hereditary cancer syndromes. Eligibility: 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. Design: 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 TUMOR LIST: 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 **************************************** ****************************************

Inclusion Criteria

  • - 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). OR -Cohort 2: Participants without a rare tumor who have a germline genetic variant that predisposes to a rare solid tumor OR -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 OR - 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: None


National Institutes of Health Clinical Center
Status: ACTIVE
Contact: National Cancer Institute Referral Office
Phone: 888-624-1937


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


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



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.

Trial Phase Phase NA

Trial Type Not provided by

Lead Organization
National Cancer Institute

Principal Investigator
Jaydira Del Rivero

  • Primary ID 190016
  • Secondary IDs NCI-2018-03297, 19-C-0016
  • ID NCT03739827