Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma
The Autoimmune Lymphoproliferative Syndrome (ALPS) is an inherited disorder associated with
defective lymphocyte apoptosis, which is clinically characterized by prominent non-malignant
lymphadenopathy, hepatosplenomegaly and overt autoimmune diseases such as hemolytic anemia,
autoimmune thrombocytopenia and neutropenia. Additionally, ALPS patients have a
significantly increased risk of developing non-Hodgkin's and Hodgkin's lymphoma.
The diagnosis of lymphoma is particularly troublesome in ALPS because many ALPS
manifestations overlap with clinical features suggestive of lymphoma. Therefore,
individuals with ALPS may undergo repeated biopsies during the course of the disease.
Finding a non-invasive test that can predictably discriminate benign from malignant
lymphadenopathy in ALPS, and that can help discern whether a more invasive lymph node biopsy
is necessary, would be very desirable.
Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) is an increasingly used
non-invasive imaging technique for staging and monitoring therapeutic responses in patients
with lymphoma. This technique might be able to assist us in distinguishing whether
enlargement of lymph nodes is due to ALPS versus ALPS associated lymphoma. However, FDG-PET
has not been studied in patients with ALPS. This study will first explore whether ALPS
patients with lymphadenopathy show FDG uptake. If uptake is shown, the study will obtain
initial quantitative data to compare FDG uptake in ALPS patients with lymphadenopathy, and
ALPS patients with associated lymphoma. The ultimate goal is to assess FDG-PET as a
reliable non-invasive method to differentiate lymphadenopathy due to ALPS versus that of
ALPS associated lymphoma.
Amy D Klion, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
United States: Federal Government
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Bethesda, Maryland 20892|