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Blood, 1 July 2001, Vol. 98, No. 1, pp. 194-200
NEOPLASIA
The development of lymphomas in families with
autoimmune lymphoproliferative syndrome with germline Fas mutations
and defective lymphocyte apoptosis
Stephen E. Straus,
Elaine
S. Jaffe,
Jennifer M. Puck,
Janet K. Dale,
Keith B. Elkon,
Angela Rösen-Wolff,
Anke M. J. Peters,
Michael C. Sneller,
Claire W. Hallahan,
Jin Wang,
Roxanne E. Fischer,
Christine
M. Jackson,
Albert Y. Lin,
Caroline Bäumler,
Elke Siegert,
Alexander Marx,
Akshay K. Vaishnaw,
Tamara Grodzicky,
Thomas A. Fleisher, and
Michael J. Lenardo
From the Laboratory of Clinical Investigation,
Laboratory of Immunoregulation, and Laboratory of Immunology, National
Institute of Allergy and Infectious Diseases; Genetic Epidemiology
Branch, and Laboratory of Pathology, National Cancer Institute;
Immunology Service, Clinical Pathology Department, Clinical Center, and
Genetics and Molecular Biology Branch, National Human Genome Research
Institute, National Institutes of Health, Bethesda, MD; Department of
Medicine, Weill Medical College of Cornell University, New York,
NY; Kinderklinik der TU Dresden and Labor Klinische Forschung,
Dresden, Germany; University Children's Hospital, Freiburg, Germany;
and Pathologisches Institute der Universität, Wurzburg, Germany.
Lymphomas were studied in kindreds with autoimmune
lymphoproliferative syndrome (ALPS; Canale-Smith syndrome), a disorder of lymphocyte homeostasis usually associated with germline Fas mutations. Fas (CD95/APO-1) is a cell surface receptor that initiates programmed cell death, or apoptosis, of activated lymphocytes. Lymphoma
phenotype was determined by immunohistochemistry, frequency of
CD3+CD4 CD8 T-cell-receptor
 / cells by flow cytometry, nucleotide sequences of the gene
encoding Fas (APT1, TNFRSF6), and the percentage of lymphocytes undergoing apoptosis in vitro. Of 223 members of 39 families, 130 individuals possessed heterozygous germline Fas mutations. Eleven B-cell and T-cell lymphomas of diverse types developed in 10 individuals with mutations in 8 families, up to 48 years after lymphoproliferation was first documented. Their risk of
non-Hodgkin and Hodgkin lymphomas, respectively, was 14 and 51 times
greater than expected (each P < .001). Investigation of
these 10 patients and their relatives with Fas mutations revealed that
all had defective lymphocyte apoptosis and most had other features of
ALPS. The tumor cells retained the heterozygous Fas mutations found in
the peripheral blood and manifested defective Fas-mediated killing.
These data implicate a role for Fas-mediated apoptosis in preventing
B-cell and T-cell lymphomas. Inherited defects in receptor-mediated
lymphocyte apoptosis represent a newly appreciated risk factor for lymphomas.
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