Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Large Granular Lymphocytic Leukemia (LGL) [C91.70]

OMIM number: - , 102582 (STAT3)

Dipl.-Ing. (FH) Tanja Hinrichsen

Scientific Background

Large Granular Lymphocytic Leukemia (LGL) is a chronic illness of mature cytotoxic CD3+ T-cells (T-LGL) or CD3- natural killer (NK) cells (NK-LGL) which infiltrate the blood and bone marrow. Cytopenia (anemia, neutropenia) and autoimmune disease such as rheumatoid arthritis are the most common clinical manifestations of LGL.

In 40-70% of T-LGL and 30% of NK-LGL somatic “gain of function” mutations in exon 20 and 21 of the STAT3 gene can be detected; the constitutive activation of STAT3 leads to a resistance to the Fas-mediated apoptosis. STAT3 mutations are very specific for LGL and could be a future target for STAT3 inhibitors.