Clinical Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Hematologic Cancer

  • participants needed
  • sponsor
    National Cancer Institute (NCI)
Updated on 27 July 2021
ct scan
lymphoid leukemia
hematologic malignancy
chronic lymphocytic leukemia
hodgkin's disease
waldenstrom's macroglobulinemia
bone marrow procedure


  • Individuals may be prone to develop blood or lymph node cancers (leukemia or lymphoma) for a variety of reasons, including genetic predisposition to these cancers, environmental exposures or other medical conditions.
  • Studies of people and families at high risk of cancer often lead to clues about their cause that may also be important regarding the sporadic occurrence of these cancers in the general population.
  • Identifying genetic or environmental factors that play a role in the development of these diseases may be important in developing prevention trials, screening programs and treatments.
  • Describe the cancers and other conditions in families with blood or lymph node cancer.
  • Find and describe genes that may cause blood and lymph node cancer, and understand how they work in families.
  • Use laboratory methods to try to determine if it is possible to identify who is at highest risk of blood or lymph node cancer.
  • Test how genes act with other factors to alter the risk of disease, its severity or its manifestations in families.
  • Individuals of any age with a personal or family history of a blood or lymph node cancer.
  • Individuals with a personal or family history of medical conditions or environmental exposures that may predispose to blood or lymph node cancer.
  • Participants complete questionnaires about their personal and family medical history and provide consent for researchers to review their medical records and pathology materials related to their care and those of deceased relatives with blood or lymph node cancer, tumors, or other related illnesses for whom they are the legally authorized representative.
  • Participants donate a sample of blood or cheek cells, or a lock of hair for genetic studies.
  • Patients may also be evaluated at the NIH Clinical Center by one or more of the following specialists: cancer doctor or blood specialist, medical geneticist, research nurses or clinical social worker. They may have blood and urine tests and a cheek swab or mouth wash to collect cheek cells. Some patients may also be asked to have x-rays and routine imaging, such as CT scans or ultrasound tests, cell surface markers, skin biopsy, and, with special consents, bone marrow biopsy, MRI or PET scans, apheresis or fluorescein angiography and photography.


  • Persons may be prone to develop hematologic or lymphoproliferative cancer for a variety of reasons including: inherited predisposition of benign, premalignant, or malignant conditions; environmental exposures shared by family members; previous tumors or preneoplastic conditions; immune deficiency; or stochastic processes
  • Investigations of individuals and families at high risk of cancer often lead to etiologic clues that may be important in the sporadic counterparts of these cancers in the general population
  • Identification of etiologically important genetic factors could inform chemoprevention trials, screening programs, and treatment of hematologic and lymphoproliferative cancers
  • To evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to hematologic cancer
  • To evaluate potential precursor states of malignancy in families at risk and increase understanding of the factors that cause progression
  • To quantify the risks of specific tumors in family members and define syndromic constellations
  • To identify, map, characterize, clone, and determine function of tumor susceptibility genes
  • To validate and test associations of biomarkers with risk
  • To identify genetic determinants, environmental factors, and gene-environmental interactions conferring cancer risk in individuals and families
  • To identify differences and similarities between the familial and sporadic condition
  • To educate and counsel study participants about their risk of hematologic malignancy including prevention recommendations and early detection activities when known
  • To develop syndrome-specific educational materials for medical professionals and high-risk family members
  • Persons of any age will be considered if
  • there is a personal or family medical history of hematologic/lymphoproliferative malignancy of an unusual type, pattern, or number; or,
  • there are known or suspected factor(s) predisposing to hematologic malignancy, either genetic or congenital factors, environmental exposure, or unusual demographic features
  • For familial neoplasms, two or more living affected cases among family members are generally required
  • This is a prospective study. Families are studied long-term using a cohort approach.
  • The study design and evaluation vary by the specific type of familial neoplasm being studied
  • The overall approach to eligible families includes defining affection status, characterization of disease, localization of genetic loci, identification of genes, evaluation of phenotype/genotype correlations, estimation of risk of the disease associated with carrier status and identification of other risk factors that modify penetrance (genetic, environmental, and host factors)

Condition Hodgkin's Disease, Lymphoma, Waldenstrom's Macroglobulinemia, Lymphoproliferative Disorder, Lymphoma, Chronic Lymphocytic Leukemia, Lymphocytic Leukemia, Chronic, Non-Hodgkin's Lymphoma, Mixed Lymphoproliferative Disease, Lymphoproliferative disorders, Waldenstrom Macroglobulinemia, non-hodgkin's lymphoma (nhl), leukemia chronic lymphocytic, chronic lymphocytic leukemia (cll), small lymphocytic lymphoma, hodgkin, hodgkin's lymphomas, hodgkin lymphomas, hodgkins lymphoma, hodgkin's lymphoma
Clinical Study IdentifierNCT00039676
SponsorNational Cancer Institute (NCI)
Last Modified on27 July 2021


Yes No Not Sure

Inclusion Criteria

On referral, persons >= 11 months will be included only because of personal
history, and persons >=18 years can also be included because of personal or
family history of the parameters listed below
A medical history of hematologic/ lymphoproliferative malignancy of any unusual type, pattern, or number; or
Known or suspected factor(s) predisposing to hematologic malignancy, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation, diet, infectious agents, etc.), or unusual demographic features (very young age of onset multiple tumors, etc.)
Personal and family medical history must be verified through questionnaires
interviews, and review of pathology slides and medical records. For familial
neoplasms, two or more living affected cases among family members are
generally required, although in selected instances exceptions may be made
e.g., for WM, one cases plus a living 1st degree relative with an autoimmune
condition will qualify a family for further investigations
Disease-specific considerations. Familial aggregation of any hematologic
cancer(s) is eligible for study, Disease specific procedures are outlined in
Chronic lymphocytic leukemia (CLL)
Waldenstrom s macroglobulinemia (WM)
Non-Hodgkin s Lymphoma (NHL)
Hodgkin disease (HD)
Mixed/miscellaneous hematologic and lymphoproliferative diseases
Ability of subject or Legally Authorized Representative (LAR) to understand
and the willingness to sign, a written informed consent document

Exclusion Criteria

Referred individuals for whom reported diagnosis cannot be verified
Referred individuals who decline informed consent
Clear my responses

How to participate?

Step 1 Connect with a site
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact


Preferred Language
Other Language
Please verify that you are not a bot.

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

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.

Learn more

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

Learn more

Similar trials to consider


Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 



Reply by • Private

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note