Call Us: US - +1 845 478 5244 | UK - +44 20 7193 7850 | AUS - +61 2 8005 4826

“Planning science (a generation after Lewis Thomas

NK mutations

In 2010, somatic mutations in exon 2 of LNK (SH2B3), an adaptor protein which regulates JAK2 activation, were detected in 2 patients (PMF and ET). These mutations had a functional impact on proliferation and were considered as the driver of the disease. Recent studies have questioned the role of LNK as a true driver of the disease. LNK mutations have been found in many different types of hemopathies, more particularly in erythrocytosis.3 Some of these mutations can be germ line, including the initially described LNKE208Q; some others are secondary somatic mutations associated with JAK2V617F or CALR mutations, more particularly during disease progression. Thus, rather than primary drivers, LNK mutations appear more as predisposition mutations when germ line or secondary mutations, increasing the pathogenicity of JAK2V617F and CALR when acquired.