Large Granular Lymphocytic Leukemia (LGL) [C91.70]
OMIM number: - , 102582 (STAT3)
Dipl.-Ing. (FH) Tanja Hinrichsen
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.