STAT3 variants in Chronic Lymphoproliferative Disorders of Natural Killer Cells and T-Cell Large Granular Lymphocytic Leukaemias 

Disease-causing variants in exons 20 and 21 of the STAT3 gene have been identified in both T-cell and NK cell diseases, approximately one-third of patients with these disorders harbour STAT3 gene variants (Jerez et al. (2012) Blood 120: (15) 3048-3057). Recurrent mutational hot spots in exon 21 of the STAT3 gene have been identified in large granular lymphocytic leukaemia which include; p.Y640F, p.D661V, p.D661Y and p.N647I (Koskela et al.  (2012) NEJM 366: (20) 1905-1913). The identification of STAT3 variants can therefore be used as a tool in the differential diagnosis of large granular lymphocytic leukaemia and lymphoproliferations involving T and NK cells.  However, all molecular data must be interpreted with other histological and clinical data.

STAT3 variants (exons 20 and 21 only) are identified by bi-directional Sanger sequencing which will detect variants present at a level of greater than 10%.

Laboratory contact:  Dr. Caroline Wickham 01392 408252 Clinical contact: Dr. Paul Kerr 01392 402917


The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.