Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Blood and Lymph Node Malignancy

Trial Information

Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Blood and Lymph Node Malignancy

Background:

- 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

Objectives:

- 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

- 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

Eligibility:

- 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

Design:

- This is a prospective study. Families are studied long-term using a cohort approach.

- The study design and clinical 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)